Results for the protein: P00451

Results for the Protein: P00451

119767

2157

F8

NCBI, UniProt

FA8_HUMAN RecName: Full=Coagulation factor VIII; AltName: Full=Antihemophilic factor; Short=AHF; AltName: Full=Procoagulant component; Contains: RecName: Full=Factor VIIIa heavy chain, 200 kDa isoform; Contains: RecName: Full=Factor VIIIa heavy chain, 92 kDa isoform; Contains: RecName: Full=Factor VIII B chain; Contains: RecName: Full=Factor VIIIa light chain; Flags: Precursor

Known Diseases associated with this Protein:
  FACTOR VIII (EAST HARTFORD)
  FACTOR VIII (OKAYAMA)
  HEMOPHILIA A
  HEMOPHILIA A (HEMA)

634

8

162

2

478

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: Cu-oxidase - pfam00394 Cu-oxidase_3 - pfam07732 Cu-oxidase_2 - pfam07731 FA58C - smart00231 FA58C - cd00057 F5_F8_type_C - pfam00754	Swiss-Prot Protein: P00451 Identical to: NP_000123 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FA58C	cd00057	1.2e-73	2195	2344
Cu-oxidase	pfam00394	1.4e-05	218	349
F5_F8_type_C	pfam00754	2.1e-37	2055	2185
F5_F8_type_C	pfam00754	2.3e-41	2208	2342
Cu-oxidase_3	pfam07732	0.00053	444	577
Cu-oxidase_2	pfam07731	3.2e-06	1915	2039
FA58C	smart00231	1.9e-55	2039	2188
FA58C	smart00231	1.1e-38	2192	2345

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_028494	Disease	p.ALA219ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_028510	Disease	p.ALA303GLU	Hemophilia A (HEMA)
Swiss-Prot	VAR_001101	Disease	p.ALA488GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_028619	Disease	p.ALA1798PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028668	Disease	p.ALA2058PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_001199	Disease	p.ALA2211PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028693	Disease	p.ALA2220PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028511	Disease	p.ALA303PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_017331	Disease	p.ALA97PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028604	Disease	p.ALA1610SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_065309	Disease	p.ALA394SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_028469	Disease	p.ALA111THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_001158	Disease	p.ALA1853THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028639	Disease	p.ALA1939THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028495	Disease	p.ALA219THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_001132	Disease	p.ALA723THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028470	Disease	p.ALA111VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_065315	Disease	p.ALA1720VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_001159	Disease	p.ALA1853VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_028640	Polymorphism	p.ALA1939VAL	N/A
Swiss-Prot	VAR_028670	Disease	p.ALA2070VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_028513	Disease	p.ALA315VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_001126	Disease	p.ALA663VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_001140	Disease	p.ARG1708CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001151	Disease	p.ARG1800CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028675	Disease	p.ARG2109CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028683	Disease	p.ARG2169CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001190	Disease	p.ARG2178CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001193	Disease	p.ARG2182CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001209	Disease	p.ARG2323CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028508	Disease	p.ARG301CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001089	Disease	p.ARG391CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001048	Disease	p.ARG48CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001108	Disease	p.ARG550CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001120	Disease	p.ARG612CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001170	Disease	p.ARG1960GLN	Hemophilia A (HEMA)
Swiss-Prot	VAR_028651	Disease	p.ARG1985GLN	Hemophilia A (HEMA)
Swiss-Prot	VAR_001203	Disease	p.ARG2228GLN	Hemophilia A (HEMA)
Swiss-Prot	VAR_001212	Disease	p.ARG2326GLN	Hemophilia A (HEMA)
Swiss-Prot	VAR_001142	Disease	p.ARG1715GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_028610	Disease	p.ARG1740GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_001152	Disease	p.ARG1800GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_001201	Disease	p.ARG2228GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_028707	Disease	p.ARG2323GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_028709	Disease	p.ARG2326GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_028546	Disease	p.ARG490GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_001109	Disease	p.ARG550GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_028570	Disease	p.ARG602GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_024380	Polymorphism	p.ARG795GLY	N/A
Swiss-Prot	VAR_001141	Disease	p.ARG1708HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028612	Disease	p.ARG1768HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001150	Disease	p.ARG1800HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001187	Disease	p.ARG2169HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001191	Disease	p.ARG2178HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001194	Disease	p.ARG2182HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001210	Disease	p.ARG2323HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001077	Disease	p.ARG301HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001090	Disease	p.ARG391HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028547	Disease	p.ARG503HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001110	Disease	p.ARG550HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001165	Disease	p.ARG1888ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_001171	Disease	p.ARG1960LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_001192	Disease	p.ARG2178LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_001202	Disease	p.ARG2228LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028708	Disease	p.ARG2323LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_001211	Disease	p.ARG2326LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_001078	Disease	p.ARG301LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028593	Disease	p.ARG717LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028455	Disease	p.ARG48LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028658	Disease	p.ARG2016PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_001184	Disease	p.ARG2135PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028686	Disease	p.ARG2182PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028696	Disease	p.ARG2228PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028710	Disease	p.ARG2326PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_001091	Disease	p.ARG391PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028528	Disease	p.ARG437PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028448	Disease	p.ARG22THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028713	Disease	p.ARG2339THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028555	Disease	p.ARG560THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_001175	Disease	p.ARG2016TRP	Hemophilia A (HEMA)
Swiss-Prot	VAR_028529	Disease	p.ARG437TRP	Hemophilia A (HEMA)
Swiss-Prot	VAR_001107	Disease	p.ARG546TRP	Hemophilia A (HEMA)
Swiss-Prot	VAR_001130	Disease	p.ARG717TRP	Hemophilia A (HEMA)
Swiss-Prot	VAR_001168	Disease	p.ASN1941ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_028681	Disease	p.ASN2157ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_028568	Disease	p.ASN601ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_028576	Disease	p.ASN637ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_017334	Disease	p.ASN254ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_001076	Disease	p.ASN299ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028573	Disease	p.ASN609ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_065314	Disease	p.ASN637ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028592	Disease	p.ASN713ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028603	Disease	p.ASN1460LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028482	Disease	p.ASN163LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028569	Disease	p.ASN601LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001121	Disease	p.ASN631LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001169	Disease	p.ASN1941SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_001176	Disease	p.ASN2038SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_001186	Disease	p.ASN2148SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_028561	Disease	p.ASN583SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_001122	Disease	p.ASN631SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_028577	Disease	p.ASN637SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_028647	Disease	p.ASN1971THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_015134	Disease	p.ASP2307ALA	Hemophilia A (HEMA)
Swiss-Prot	VAR_028559	Disease	p.ASP579ALA	Hemophilia A (HEMA)
Swiss-Prot	VAR_065304	Disease	p.ASP186ASN	Hemophilia A (HEMA)
Swiss-Prot	VAR_001160	Disease	p.ASP1865ASN	Hemophilia A (HEMA)
Swiss-Prot	VAR_028543	Disease	p.ASP478ASN	Hemophilia A (HEMA)
Swiss-Prot	VAR_001106	Disease	p.ASP544ASN	Hemophilia A (HEMA)
dbSNP	rs1800291	Polymorphism	p.ASP1260GLU	N/A
Swiss-Prot	VAR_028459	Disease	p.ASP75GLU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028466	Disease	p.ASP101GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_001061	Disease	p.ASP135GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_028487	Disease	p.ASP186GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_001179	Disease	p.ASP2093GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_065323	Disease	p.ASP2286GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_028556	Disease	p.ASP561GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_028565	Disease	p.ASP588GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_028467	Disease	p.ASP101HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028479	Disease	p.ASP145HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028618	Disease	p.ASP1788HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028557	Disease	p.ASP561HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028560	Disease	p.ASP579HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028475	Disease	p.ASP135TYR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028488	Disease	p.ASP186TYR	Hemophilia A (HEMA)
Swiss-Prot	VAR_001161	Disease	p.ASP1865TYR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028672	Disease	p.ASP2093TYR	Hemophilia A (HEMA)
Swiss-Prot	VAR_008967	Disease	p.ASP561TYR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028566	Disease	p.ASP588TYR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028460	Disease	p.ASP75TYR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028468	Disease	p.ASP101VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_028609	Disease	p.ASP1727VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_001068	Disease	p.ASP222VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_001049	Polymorphism	p.ASP75VAL	N/A
Swiss-Prot	VAR_028631	Disease	p.CYS1877ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_001086	Disease	p.CYS348ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028490	Disease	p.CYS198GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_017341	Disease	p.CYS2193GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_028517	Disease	p.CYS329PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028715	Disease	p.CYS2345SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_001087	Disease	p.CYS348SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_028484	Disease	p.CYS172TRP	Hemophilia A (HEMA)
Swiss-Prot	VAR_065317	Disease	p.CYS1877TYR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028664	Disease	p.CYS2040TYR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028716	Disease	p.CYS2345TYR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028501	Disease	p.CYS267TYR	Hemophilia A (HEMA)
Swiss-Prot	VAR_001088	Disease	p.CYS348TYR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028674	Disease	p.GLN2106ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028678	Disease	p.GLN2119ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_001206	Disease	p.GLN2265ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028563	Disease	p.GLN584ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028673	Disease	p.GLN2106GLU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028607	Disease	p.GLN1705HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028562	Disease	p.GLN584HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028602	Disease	p.GLN1336LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001114	Disease	p.GLN584LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_065320	Disease	p.GLN2106PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028711	Disease	p.GLN2330PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028581	Disease	p.GLN664PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_001059	Disease	p.GLU132ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_028634	Disease	p.GLU1904ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_028692	Disease	p.GLU2200ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_028623	Disease	p.GLU1848GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_001166	Disease	p.GLU1894GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_028659	Disease	p.GLU2018GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_001074	Disease	p.GLU291GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_001095	Disease	p.GLU409GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_001135	Disease	p.GLU1057LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028478	Disease	p.GLU141LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028606	Disease	p.GLU1701LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001143	Disease	p.GLU1723LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001167	Disease	p.GLU1904LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028497	Disease	p.GLU223LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028504	Disease	p.GLU284LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028505	Disease	p.GLU291LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028519	Disease	p.GLU340LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028541	Disease	p.GLU475LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_017330	Disease	p.GLU72LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001134	Disease	p.GLU739LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028465	Disease	p.GLU98LYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001057	Disease	p.GLU129VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_001046	Disease	p.GLU30VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_015130	Disease	p.GLY1942ALA	Hemophilia A (HEMA)
Swiss-Prot	VAR_028654	Disease	p.GLY2000ALA	Hemophilia A (HEMA)
Swiss-Prot	VAR_028463	Disease	p.GLY92ALA	Hemophilia A (HEMA)
Swiss-Prot	VAR_001058	Disease	p.GLY130ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_001145	Disease	p.GLY1769ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028615	Disease	p.GLY1779ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028489	Disease	p.GLY193ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_065318	Disease	p.GLY2013ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028661	Disease	p.GLY2028ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_001072	Disease	p.GLY278ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_001100	Disease	p.GLY474ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_001105	Disease	p.GLY498ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028483	Disease	p.GLY164ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_028627	Disease	p.GLY1869ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_001172	Disease	p.GLY1967ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_028660	Disease	p.GLY2022ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_065325	Disease	p.GLY2344ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_065308	Disease	p.GLY280ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_028531	Disease	p.GLY439ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_001131	Disease	p.GLY720ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_001050	Disease	p.GLY89ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_008968	Disease	p.GLY2344CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001047	Disease	p.GLY41CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001148	Disease	p.GLY1779GLU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028628	Disease	p.GLY1872GLU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028665	Disease	p.GLY2045GLU	Hemophilia A (HEMA)
Swiss-Prot	VAR_001071	Disease	p.GLY266GLU	Hemophilia A (HEMA)
Swiss-Prot	VAR_015128	Disease	p.GLY323GLU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028536	Disease	p.GLY466GLU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028540	Disease	p.GLY474GLU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028474	Disease	p.GLY121SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_001181	Disease	p.GLY2107SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_028714	Disease	p.GLY2344SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_028500	Disease	p.GLY263SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_017335	Disease	p.GLY439SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_028548	Disease	p.GLY513SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_028594	Disease	p.GLY720SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_001069	Disease	p.GLY224TRP	Hemophilia A (HEMA)
Swiss-Prot	VAR_028591	Disease	p.GLY710TRP	Hemophilia A (HEMA)
Swiss-Prot	VAR_001063	Disease	p.GLY164VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_001163	Disease	p.GLY1869VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_001173	Disease	p.GLY1979VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_028666	Disease	p.GLY2045VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_028691	Disease	p.GLY2198VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_028706	Disease	p.GLY2304VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_015127	Disease	p.GLY255VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_001097	Disease	p.GLY439VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_065310	Disease	p.GLY474VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_028542	Disease	p.GLY477VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_065312	Disease	p.GLY513VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_028590	Disease	p.GLY705VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_001051	Disease	p.GLY89VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_028464	Disease	p.GLY92VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_028471	Disease	p.HIS113ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_001162	Disease	p.HIS1867ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_065319	Disease	p.HIS2101ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_028685	Disease	p.HIS2174ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_028648	Disease	p.HIS1973LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028503	Disease	p.HIS275LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028626	Disease	p.HIS1867PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028649	Disease	p.HIS1980PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028601	Disease	p.HIS1066TYR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028472	Disease	p.HIS113TYR	Hemophilia A (HEMA)
Swiss-Prot	VAR_001174	Disease	p.HIS1980TYR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028617	Disease	p.ILE1782ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028564	Disease	p.ILE585ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028667	Disease	p.ILE2056ASN	Hemophilia A (HEMA)
Swiss-Prot	VAR_001198	Disease	p.ILE2209ASN	Hemophilia A (HEMA)
Swiss-Prot	VAR_028633	Disease	p.ILE1901PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028676	Disease	p.ILE2117PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_065324	Disease	p.ILE2336PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028523	Disease	p.ILE405PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028530	Disease	p.ILE438PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_017339	Disease	p.ILE2051SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_028677	Disease	p.ILE2117SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_028512	Disease	p.ILE307SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_001094	Disease	p.ILE405SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_028605	Disease	p.ILE1698THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_001197	Disease	p.ILE2204THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028704	Disease	p.ILE2281THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_001104	Disease	p.ILE494THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_017337	Disease	p.ILE567THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_001115	Disease	p.ILE585THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028549	Disease	p.ILE522TYR	Hemophilia A (HEMA)
Swiss-Prot	VAR_001084	Disease	p.ILE331VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_001056	Disease	p.LEU117ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_001045	Disease	p.LEU26ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028567	Disease	p.LEU594GLN	Hemophilia A (HEMA)
Swiss-Prot	VAR_028597	Disease	p.LEU725GLN	Hemophilia A (HEMA)
Swiss-Prot	VAR_028493	Disease	p.LEU217HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028473	Disease	p.LEU117PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_001147	Disease	p.LEU1775PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_001154	Disease	p.LEU1808PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_065305	Disease	p.LEU191PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028642	Disease	p.LEU1951PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028697	Disease	p.LEU2229PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_001096	Disease	p.LEU431PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028579	Disease	p.LEU650PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_001137	Polymorphism	p.LEU1481PRO	N/A
Swiss-Prot	VAR_028613	Disease	p.LEU1771PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028614	Disease	p.LEU1777PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028629	Disease	p.LEU1875PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028632	Disease	p.LEU1882PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_065306	Disease	p.LEU195PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_015131	Disease	p.LEU1963PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028652	Disease	p.LEU1994PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028451	Disease	p.LEU26PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_065307	Disease	p.LEU261PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028515	Disease	p.LEU326PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_001083	Disease	p.LEU327PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028580	Disease	p.LEU659PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028458	Disease	p.LEU69PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_001196	Disease	p.LEU2185SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_028527	Disease	p.LEU431SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_028688	Disease	p.LEU2185TRP	Hemophilia A (HEMA)
Swiss-Prot	VAR_001146	Disease	p.LEU1775VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_028516	Disease	p.LEU327VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_001123	Disease	p.LEU644VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_001098	Disease	p.LYS444ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028457	Disease	p.LYS67ASN	Hemophilia A (HEMA)
Swiss-Prot	VAR_048438	Polymorphism	p.LYS1289GLN	N/A
Swiss-Prot	VAR_028611	Disease	p.LYS1751GLN	Hemophilia A (HEMA)
Swiss-Prot	VAR_028625	Disease	p.LYS1864GLU	Hemophilia A (HEMA)
Swiss-Prot	VAR_017336	Disease	p.LYS529GLU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028456	Disease	p.LYS67GLU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028526	Disease	p.LYS427ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_001054	Disease	p.LYS108THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_001066	Disease	p.LYS185THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028687	Disease	p.MET2183ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_001155	Disease	p.MET1842ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028644	Disease	p.MET1966ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028656	Disease	p.MET2007ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028574	Disease	p.MET633ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028582	Disease	p.MET681ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028589	Disease	p.MET701ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028595	Disease	p.MET721ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028596	Disease	p.MET721LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_001149	Disease	p.MET1791THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028518	Disease	p.MET339THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028588	Disease	p.MET699THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_001055	Disease	p.MET110VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_028641	Disease	p.MET1945VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_028645	Disease	p.MET1966VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_065321	Disease	p.MET2143VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_001195	Disease	p.MET2183VAL	Hemophilia A (HEMA)
dbSNP	rs1800297	Polymorphism	p.MET2257VAL	N/A
Swiss-Prot	VAR_015129	Disease	p.MET586VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_001129	Disease	p.MET699VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_028679	Disease	p.PHE2120CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028680	Disease	p.PHE2145CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028702	Disease	p.PHE2279CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028535	Disease	p.PHE455CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028545	Disease	p.PHE484CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028650	Disease	p.PHE1982ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028703	Disease	p.PHE2279ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_065316	Disease	p.PHE1762LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_001182	Disease	p.PHE2120LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028506	Disease	p.PHE295LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_001128	Disease	p.PHE677LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028587	Disease	p.PHE698LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_017338	Disease	p.PHE1804SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_001080	Disease	p.PHE312SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_028492	Disease	p.PHE214VAL	Hemophilia A (HEMA)
Swiss-Prot	VAR_028621	Disease	p.PRO1801ALA	Hemophilia A (HEMA)
Swiss-Prot	VAR_001164	Disease	p.PRO1873ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_015133	Disease	p.PRO2172ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028690	Disease	p.PRO2196ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028538	Disease	p.PRO470ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_065311	Disease	p.PRO496ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_065313	Disease	p.PRO569ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_065303	Disease	p.PRO83ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028599	Disease	p.PRO947ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_001188	Disease	p.PRO2172GLN	Hemophilia A (HEMA)
Swiss-Prot	VAR_028616	Disease	p.PRO1780LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028669	Disease	p.PRO2067LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028682	Disease	p.PRO2162LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_065322	Disease	p.PRO2172LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028695	Disease	p.PRO2224LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_001207	Disease	p.PRO2319LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028499	Disease	p.PRO262LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028537	Disease	p.PRO470LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_001064	Disease	p.PRO165SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_001156	Disease	p.PRO1844SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_001208	Disease	p.PRO2319SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_028539	Disease	p.PRO470THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028551	Disease	p.PRO540THR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028477	Disease	p.SER138ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028447	Disease	p.SER19ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028636	Disease	p.SER1907ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028646	Disease	p.SER1968ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_008123	Disease	p.SER202ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028571	Disease	p.SER603ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028491	Disease	p.SER202ASN	Hemophilia A (HEMA)
Swiss-Prot	VAR_028662	Disease	p.SER2030ASN	Hemophilia A (HEMA)
Swiss-Prot	VAR_028671	Disease	p.SER2082ASN	Hemophilia A (HEMA)
Swiss-Prot	VAR_028575	Disease	p.SER635ASN	Hemophilia A (HEMA)
Swiss-Prot	VAR_028624	Disease	p.SER1858CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028635	Disease	p.SER1907CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028554	Disease	p.SER554CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001111	Disease	p.SER554GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_028620	Disease	p.SER1799HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028643	Disease	p.SER1965ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028689	Disease	p.SER2192ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_001117	Disease	p.SER603ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_001067	Disease	p.SER189LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_001079	Disease	p.SER308LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_001092	Disease	p.SER392LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_001178	Disease	p.SER2088PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_001113	Disease	p.SER577PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028485	Disease	p.SER176PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028486	Disease	p.SER179PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_001093	Disease	p.SER392PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028553	Disease	p.SER553PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_001116	Disease	p.SER596PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_001153	Disease	p.SER1803TYR	Hemophilia A (HEMA)
Swiss-Prot	VAR_001185	Disease	p.SER2138TYR	Hemophilia A (HEMA)
Swiss-Prot	VAR_028476	Disease	p.THR137ALA	Hemophilia A (HEMA)
Swiss-Prot	VAR_028684	Disease	p.THR2173ALA	Hemophilia A (HEMA)
Swiss-Prot	VAR_028701	Disease	p.THR2264ALA	Hemophilia A (HEMA)
Swiss-Prot	VAR_001081	Disease	p.THR314ALA	Hemophilia A (HEMA)
Swiss-Prot	VAR_028655	Disease	p.THR2004ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028544	Disease	p.THR479ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028586	Disease	p.THR686ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_001180	Disease	p.THR2105ASN	Hemophilia A (HEMA)
Swiss-Prot	VAR_017340	Disease	p.THR2141ASN	Hemophilia A (HEMA)
Swiss-Prot	VAR_001062	Disease	p.THR137ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_001189	Disease	p.THR2173ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028498	Disease	p.THR252ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_001075	Disease	p.THR294ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_001082	Disease	p.THR314ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028534	Disease	p.THR454ILE	Hemophilia A (HEMA)
Swiss-Prot	VAR_001157	Disease	p.THR1845PRO	Hemophilia A (HEMA)
Swiss-Prot	VAR_028608	Disease	p.THR1714SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_028552	Disease	p.THR541SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_001177	Disease	p.TRP2065ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028712	Disease	p.TRP2332ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028525	Disease	p.TRP412ARG	Hemophilia A (HEMA)
Swiss-Prot	VAR_028657	Disease	p.TRP2015CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001205	Disease	p.TRP2248CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028502	Disease	p.TRP274CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001118	Disease	p.TRP604CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028452	Disease	p.TRP33GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_028522	Disease	p.TRP401GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_028524	Disease	p.TRP412GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_028550	Disease	p.TRP532GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_028637	Disease	p.TRP1908LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028705	Disease	p.TRP2290LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028698	Disease	p.TRP2248SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_001099	Disease	p.TYR450ASN	Hemophilia A (HEMA)
Swiss-Prot	VAR_028585	Disease	p.TYR683ASN	Hemophilia A (HEMA)
Swiss-Prot	VAR_028533	Disease	p.TYR450ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_001060	Disease	p.TYR133CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001138	Disease	p.TYR1699CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001144	Disease	p.TYR1728CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028622	Disease	p.TYR1802CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028638	Disease	p.TYR1909CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028653	Disease	p.TYR1998CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_015132	Disease	p.TYR2036CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001183	Disease	p.TYR2124CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028449	Disease	p.TYR24CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028450	Disease	p.TYR25CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028453	Disease	p.TYR35CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028521	Disease	p.TYR365CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028532	Disease	p.TYR442CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001103	Disease	p.TYR492CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028578	Disease	p.TYR639CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028584	Disease	p.TYR683CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028598	Disease	p.TYR742CYS	Hemophilia A (HEMA)
Swiss-Prot	VAR_017332	Disease	p.TYR155HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028454	Disease	p.TYR35HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001102	Disease	p.TYR492HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_028572	Disease	p.TYR605HIS	Hemophilia A (HEMA)
Swiss-Prot	VAR_001139	Disease	p.TYR1699PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_001119	Disease	p.TYR605SER	Hemophilia A (HEMA)
Swiss-Prot	VAR_028481	Disease	p.VAL159ALA	Hemophilia A (HEMA)
Swiss-Prot	VAR_028663	Disease	p.VAL2035ALA	Hemophilia A (HEMA)
Swiss-Prot	VAR_028699	Disease	p.VAL2251ALA	Hemophilia A (HEMA)
Swiss-Prot	VAR_028507	Disease	p.VAL297ALA	Hemophilia A (HEMA)
Swiss-Prot	VAR_028520	Disease	p.VAL345ALA	Hemophilia A (HEMA)
Swiss-Prot	VAR_028558	Disease	p.VAL578ALA	Hemophilia A (HEMA)
Swiss-Prot	VAR_001124	Disease	p.VAL653ALA	Hemophilia A (HEMA)
Swiss-Prot	VAR_001053	Disease	p.VAL104ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_028480	Disease	p.VAL147ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_001112	Disease	p.VAL556ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_001052	Disease	p.VAL99ASP	Hemophilia A (HEMA)
Swiss-Prot	VAR_017333	Disease	p.VAL181GLU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028700	Disease	p.VAL2251GLU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028496	Disease	p.VAL220GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_001073	Disease	p.VAL285GLY	Hemophilia A (HEMA)
Swiss-Prot	VAR_028600	Disease	p.VAL1012LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_028630	Disease	p.VAL1876LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_001085	Disease	p.VAL345LEU	Hemophilia A (HEMA)
Swiss-Prot	VAR_001065	Disease	p.VAL181MET	Hemophilia A (HEMA)
Swiss-Prot	VAR_001204	Polymorphism	p.VAL2242MET	N/A
Swiss-Prot	VAR_001125	Disease	p.VAL653MET	Hemophilia A (HEMA)
Swiss-Prot	VAR_001070	Disease	p.VAL253PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_028583	Disease	p.VAL682PHE	Hemophilia A (HEMA)
Swiss-Prot	VAR_001133	Disease	p.VAL727PHE	Hemophilia A (HEMA)
OMIM	300841.0239	Disease	p.ALA2192PRO	HEMOPHILIA A
OMIM	300841.0163	Disease	p.ALA704THR	HEMOPHILIA A
OMIM	300841.0201	Disease	p.ALA1834VAL	HEMOPHILIA A
OMIM	300841.0159	Disease	p.ALA644VAL	HEMOPHILIA A
OMIM	300841.0030	Disease	p.ARG1689CYS	HEMOPHILIA A\|\|FACTOR VIII (EAST HARTFORD)
OMIM	300841.0192	Disease	p.ARG1781CYS	HEMOPHILIA A
OMIM	300841.0234	Disease	p.ARG2159CYS	HEMOPHILIA A
OMIM	300841.0238	Disease	p.ARG2163CYS	HEMOPHILIA A
OMIM	300841.0250	Disease	p.ARG2304CYS	HEMOPHILIA A
OMIM	300841.0041	Disease	p.ARG372CYS	HEMOPHILIA A
OMIM	300841.0140	Disease	p.ARG531CYS	HEMOPHILIA A
OMIM	300841.0153	Disease	p.ARG593CYS	HEMOPHILIA A
OMIM	300841.0026	Disease	p.ARG1941GLN	HEMOPHILIA A
OMIM	300841.0014	Disease	p.ARG2209GLN	HEMOPHILIA A
OMIM	300841.0042	Disease	p.ARG2307GLN	HEMOPHILIA A
OMIM	300841.0185	Disease	p.ARG1696GLY	HEMOPHILIA A
OMIM	300841.0193	Disease	p.ARG1781GLY	HEMOPHILIA A
OMIM	300841.0242	Disease	p.ARG2209GLY	HEMOPHILIA A
OMIM	300841.0141	Disease	p.ARG531GLY	HEMOPHILIA A
OMIM	300841.0183	Disease	p.ARG1689HIS	HEMOPHILIA A
OMIM	300841.0191	Disease	p.ARG1781HIS	HEMOPHILIA A
OMIM	300841.0231	Disease	p.ARG2150HIS	HEMOPHILIA A
OMIM	300841.0236	Disease	p.ARG2159HIS	HEMOPHILIA A
OMIM	300841.0237	Disease	p.ARG2163HIS	HEMOPHILIA A
OMIM	300841.0251	Disease	p.ARG2304HIS	HEMOPHILIA A
OMIM	300841.0109	Disease	p.ARG282HIS	HEMOPHILIA A
OMIM	300841.0027	Disease	p.ARG372HIS	FACTOR VIII (OKAYAMA)
OMIM	300841.0142	Disease	p.ARG531HIS	HEMOPHILIA A
OMIM	300841.0212	Disease	p.ARG1941LEU	HEMOPHILIA A
OMIM	300841.0235	Disease	p.ARG2159LEU	HEMOPHILIA A
OMIM	300841.0241	Disease	p.ARG2209LEU	HEMOPHILIA A
OMIM	300841.0025	Disease	p.ARG2307LEU	HEMOPHILIA A
OMIM	300841.0110	Disease	p.ARG282LEU	HEMOPHILIA A
OMIM	300841.0044	Disease	p.ARG2116PRO	HEMOPHILIA A
OMIM	300841.0184	Disease	p.ARG1696TER	HEMOPHILIA A
OMIM	300841.0034	Disease	p.ARG1941TER	HEMOPHILIA A
OMIM	300841.0217	Disease	p.ARG1966TER	HEMOPHILIA A
OMIM	300841.0004	Disease	p.ARG2116TER	HEMOPHILIA A
OMIM	300841.0012	Disease	p.ARG2147TER	HEMOPHILIA A
OMIM	300841.0002	Disease	p.ARG2209TER	HEMOPHILIA A
OMIM	300841.0001	Disease	p.ARG2307TER	HEMOPHILIA A
OMIM	300841.0055	Disease	p.ARG336TER	HEMOPHILIA A
OMIM	300841.0062	Disease	p.ARG427TER	HEMOPHILIA A
OMIM	300841.0149	Disease	p.ARG583TER	HEMOPHILIA A
OMIM	300841.0165	Disease	p.ARG795TER	HEMOPHILIA A
OMIM	300841.0221	Disease	p.ARG1997TRP	HEMOPHILIA A
OMIM	300841.0139	Disease	p.ARG527TRP	HEMOPHILIA A
OMIM	300841.0162	Disease	p.ARG698TRP	HEMOPHILIA A
OMIM	300841.0057	Disease	p.ASN1922ASP	HEMOPHILIA A
OMIM	300841.0108	Disease	p.ASN280ILE	HEMOPHILIA A
OMIM	300841.0211	Disease	p.ASN1922SER	HEMOPHILIA A
OMIM	300841.0222	Disease	p.ASN2019SER	HEMOPHILIA A
OMIM	300841.0154	Disease	p.ASN612SER	HEMOPHILIA A
OMIM	300841.0203	Disease	p.ASP1846ASN	HEMOPHILIA A
OMIM	300841.0138	Disease	p.ASP525ASN	HEMOPHILIA A
OMIM	300841.0090	Disease	p.ASP116GLY	HEMOPHILIA A
OMIM	300841.0225	Disease	p.ASP2074GLY	HEMOPHILIA A
OMIM	300841.0144	Disease	p.ASP542GLY	HEMOPHILIA A
OMIM	300841.0204	Disease	p.ASP1846TYR	HEMOPHILIA A
OMIM	300841.0096	Disease	p.ASP203VAL	HEMOPHILIA A
OMIM	300841.0058	Disease	p.CYS329ARG	HEMOPHILIA A
OMIM	300841.0268	Disease	p.CYS179GLY	HEMOPHILIA A
OMIM	300841.0119	Disease	p.CYS329SER	HEMOPHILIA A
OMIM	300841.0227	Disease	p.CYS2105TYR	HEMOPHILIA A
OMIM	300841.0118	Disease	p.CYS329TYR	HEMOPHILIA A
OMIM	300841.0245	Disease	p.GLN2246ARG	HEMOPHILIA A
OMIM	300841.0147	Disease	p.GLN565LYS	HEMOPHILIA A
OMIM	300841.0196	Disease	p.GLN1796TER	HEMOPHILIA A
OMIM	300841.0208	Disease	p.GLN1874TER	HEMOPHILIA A
OMIM	300841.0247	Disease	p.GLN2270TER	HEMOPHILIA A
OMIM	300841.0088	Disease	p.GLU113ASP	HEMOPHILIA A
OMIM	300841.0015	Disease	p.GLU272GLY	HEMOPHILIA A
OMIM	300841.0126	Disease	p.GLU390GLY	HEMOPHILIA A
OMIM	300841.0168	Disease	p.GLU1038LYS	HEMOPHILIA A
OMIM	300841.0063	Disease	p.GLU1704LYS	HEMOPHILIA A
OMIM	300841.0209	Disease	p.GLU1885LYS	HEMOPHILIA A
OMIM	300841.0164	Disease	p.GLU720LYS	HEMOPHILIA A
OMIM	300841.0182	Disease	p.GLU161TER	HEMOPHILIA A
OMIM	300841.0028	Disease	p.GLU1686TER	HEMOPHILIA A
OMIM	300841.0145	Disease	p.GLU557TER	HEMOPHILIA A
OMIM	300841.0071	Disease	p.GLU11VAL	HEMOPHILIA A
OMIM	300841.0087	Disease	p.GLY111ARG	HEMOPHILIA A
OMIM	300841.0187	Disease	p.GLY1750ARG	HEMOPHILIA A
OMIM	300841.0104	Disease	p.GLY259ARG	HEMOPHILIA A
OMIM	300841.0134	Disease	p.GLY479ARG	HEMOPHILIA A
OMIM	300841.0214	Disease	p.GLY1948ASP	HEMOPHILIA A
OMIM	300841.0080	Disease	p.GLY70ASP	HEMOPHILIA A
OMIM	300841.0073	Disease	p.GLY22CYS	HEMOPHILIA A
OMIM	300841.0102	Disease	p.GLY247GLN	HEMOPHILIA A
OMIM	300841.0190	Disease	p.GLY1760GLU	HEMOPHILIA A
OMIM	300841.0097	Disease	p.GLY205TRP	HEMOPHILIA A
OMIM	300841.0092	Disease	p.GLY145VAL	HEMOPHILIA A
OMIM	300841.0215	Disease	p.GLY1960VAL	HEMOPHILIA A
OMIM	300841.0081	Disease	p.GLY73VAL	HEMOPHILIA A
OMIM	300841.0205	Disease	p.HIS1848ARG	HEMOPHILIA A
OMIM	300841.0216	Disease	p.HIS1961TYR	HEMOPHILIA A
OMIM	300841.0125	Disease	p.ILE386SER	HEMOPHILIA A
OMIM	300841.0133	Disease	p.ILE475THR	HEMOPHILIA A
OMIM	300841.0066	Disease	p.ILE566THR	HEMOPHILIA A
OMIM	300841.0070	Disease	p.LEU7ARG	HEMOPHILIA A
OMIM	300841.0086	Disease	p.LEU98ARG	HEMOPHILIA A
OMIM	300841.0189	Disease	p.LEU1756PHE	HEMOPHILIA A
OMIM	300841.0195	Disease	p.LEU1789PHE	HEMOPHILIA A
OMIM	300841.0127	Disease	p.LEU412PHE	HEMOPHILIA A
OMIM	300841.0116	Disease	p.LEU308PRO	HEMOPHILIA A
OMIM	300841.0043	Disease	p.LEU2166SER	HEMOPHILIA A
OMIM	300841.0188	Disease	p.LEU1756VAL	HEMOPHILIA A
OMIM	300841.0129	Disease	p.LYS425ARG	HEMOPHILIA A
OMIM	300841.0200	Disease	p.LYS1827TER	HEMOPHILIA A
OMIM	300841.0095	Disease	p.LYS166THR	HEMOPHILIA A
OMIM	300841.0084	Disease	p.LYS89THR	HEMOPHILIA A
OMIM	300841.0197	Disease	p.MET1823ILE	HEMOPHILIA A
OMIM	300841.0065	Disease	p.MET1772THR	HEMOPHILIA A
OMIM	300841.0085	Disease	p.MET91VAL	HEMOPHILIA A
OMIM	300841.0226	Disease	p.PHE2101LEU	HEMOPHILIA A
OMIM	300841.0161	Disease	p.PHE658LEU	HEMOPHILIA A
OMIM	300841.0113	Disease	p.PHE293SER	HEMOPHILIA A
OMIM	300841.0206	Disease	p.PRO1854ARG	HEMOPHILIA A
OMIM	300841.0232	Disease	p.PRO2153GLN	HEMOPHILIA A
OMIM	300841.0249	Disease	p.PRO2300LEU	HEMOPHILIA A
OMIM	300841.0093	Disease	p.PRO146SER	HEMOPHILIA A
OMIM	300841.0198	Disease	p.PRO1825SER	HEMOPHILIA A
OMIM	300841.0064	Disease	p.PRO2300SER	HEMOPHILIA A
OMIM	300841.0143	Disease	p.SER535GLY	HEMOPHILIA A
OMIM	300841.0150	Disease	p.SER584ILE	HEMOPHILIA A
OMIM	300841.0045	Disease	p.SER170LEU	HEMOPHILIA A
OMIM	300841.0112	Disease	p.SER289LEU	HEMOPHILIA A
OMIM	300841.0122	Disease	p.SER373LEU	HEMOPHILIA A
OMIM	300841.0224	Disease	p.SER2069PHE	HEMOPHILIA A
OMIM	300841.0146	Disease	p.SER558PHE	HEMOPHILIA A
OMIM	300841.0123	Disease	p.SER373PRO	HEMOPHILIA A
OMIM	300841.0148	Disease	p.SER577PRO	HEMOPHILIA A
OMIM	300841.0121	Disease	p.SER373TER	HEMOPHILIA A
OMIM	300841.0194	Disease	p.SER1784TYR	HEMOPHILIA A
OMIM	300841.0228	Disease	p.SER2119TYR	HEMOPHILIA A
OMIM	300841.0114	Disease	p.THR295ALA	HEMOPHILIA A
OMIM	300841.0233	Disease	p.THR2154ILE	HEMOPHILIA A
OMIM	300841.0107	Disease	p.THR275ILE	HEMOPHILIA A
OMIM	300841.0199	Disease	p.THR1826PRO	HEMOPHILIA A
OMIM	300841.0223	Disease	p.TRP2046ARG	HEMOPHILIA A
OMIM	300841.0244	Disease	p.TRP2229CYS	HEMOPHILIA A
OMIM	300841.0151	Disease	p.TRP585CYS	HEMOPHILIA A
OMIM	300841.0213	Disease	p.TRP1942TER	HEMOPHILIA A
OMIM	300841.0103	Disease	p.TRP255TER	HEMOPHILIA A
OMIM	300841.0117	Disease	p.TRP323TER	HEMOPHILIA A
OMIM	300841.0130	Disease	p.TYR431ASN	HEMOPHILIA A
OMIM	300841.0089	Disease	p.TYR114CYS	HEMOPHILIA A
OMIM	300841.0269	Disease	p.TYR16CYS	HEMOPHILIA A
OMIM	300841.0032	Disease	p.TYR1709CYS	HEMOPHILIA A
OMIM	300841.0132	Disease	p.TYR473CYS	HEMOPHILIA A
OMIM	300841.0131	Disease	p.TYR473HIS	HEMOPHILIA A
OMIM	300841.0091	Disease	p.TYR118ILE	HEMOPHILIA A
OMIM	300841.0031	Disease	p.TYR1680PHE	HEMOPHILIA A
OMIM	300841.0152	Disease	p.TYR586SER	HEMOPHILIA A
OMIM	300841.0158	Disease	p.TYR636TER	HEMOPHILIA A
OMIM	300841.0156	Disease	p.VAL634ALA	HEMOPHILIA A
OMIM	300841.0082	Disease	p.VAL80ASP	HEMOPHILIA A
OMIM	300841.0083	Disease	p.VAL85ASP	HEMOPHILIA A
OMIM	300841.0106	Disease	p.VAL266GLY	HEMOPHILIA A
OMIM	300841.0059	Disease	p.VAL326LEU	HEMOPHILIA A
OMIM	300841.0094	Disease	p.VAL162MET	HEMOPHILIA A
OMIM	300841.0157	Disease	p.VAL634MET	HEMOPHILIA A

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258