Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_018004 | Disease | p.ALA1337PRO | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023900 | Disease | p.ALA2160PRO | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066536 | Disease | p.ALA1728THR | Geleophysic dysplasia 2 (GPHYSD2) |
Swiss-Prot | VAR_023903 | Disease | p.ALA2385THR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_014663 | Polymorphism | p.ALA27THR | N/A |
Swiss-Prot | VAR_002289 | Disease | p.ALA705THR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066537 | Disease | p.ALA1728VAL | Geleophysic dysplasia 2 (GPHYSD2) |
Swiss-Prot | VAR_017969 | Disease | p.ARG114CYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002277 | Disease | p.ARG122CYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018012 | Polymorphism | p.ARG1530CYS | N/A |
Swiss-Prot | VAR_017972 | Disease | p.ARG240CYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002347 | Disease | p.ARG2680CYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002284 | Disease | p.ARG545CYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017967 | Disease | p.ARG62CYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002287 | Disease | p.ARG627CYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023863 | Disease | p.ARG439GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002318 | Disease | p.ARG1170HIS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023869 | Disease | p.ARG636ILE | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002314 | Disease | p.ARG1137PRO | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018016 | Disease | p.ARG1790PRO | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018023 | Disease | p.ARG1915SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002340 | Disease | p.ARG2282TRP | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018034 | Disease | p.ARG2335TRP | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002348 | Disease | p.ARG2726TRP | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018032 | Disease | p.ASN2223HIS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002285 | Disease | p.ASN548ILE | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002320 | Disease | p.ASN1173LYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_065999 | Disease | p.ASN1489LYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002331 | Disease | p.ASN1893LYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018042 | Disease | p.ASN2624LYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_055728 | Polymorphism | p.ASN1282SER | N/A |
Swiss-Prot | VAR_002324 | Disease | p.ASN1382SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002336 | Disease | p.ASN2144SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002313 | Disease | p.ASN1131TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_065998 | Disease | p.ASP1487ALA | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002291 | Disease | p.ASP723ALA | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002317 | Disease | p.ASP1155ASN | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066004 | Disease | p.ASP2166ASN | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017980 | Disease | p.ASP654ASN | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002335 | Disease | p.ASP2127GLU | Marfan syndrome (MFS) |
Swiss-Prot | VAR_055735 | Polymorphism | p.ASP2329GLU | N/A |
Swiss-Prot | VAR_002306 | Disease | p.ASP1072GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_055727 | Polymorphism | p.ASP1113GLY | N/A |
Swiss-Prot | VAR_066006 | Disease | p.ASP2247GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002325 | Disease | p.ASP1404TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002283 | Disease | p.ASP490TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023874 | Disease | p.ASP1113VAL | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066541 | Disease | p.ASP1758VAL | Acromicric dysplasia (ACMICD) |
Swiss-Prot | VAR_017985 | Disease | p.ASP723VAL | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002303 | Disease | p.CYS1053ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002308 | Disease | p.CYS1074ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002276 | Disease | p.CYS111ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018320 | Disease | p.CYS1265ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018008 | Disease | p.CYS1389ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023882 | Disease | p.CYS1402ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002326 | Disease | p.CYS1513ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002329 | Disease | p.CYS1663ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023861 | Disease | p.CYS177ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023890 | Disease | p.CYS1791ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023894 | Disease | p.CYS1895ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002332 | Disease | p.CYS1928ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066003 | Disease | p.CYS1984ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023899 | Disease | p.CYS2085ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018029 | Disease | p.CYS2111ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023862 | Disease | p.CYS224ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023902 | Disease | p.CYS2251ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002339 | Disease | p.CYS2258ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066007 | Polymorphism | p.CYS2318ARG | N/A |
Swiss-Prot | VAR_002343 | Disease | p.CYS2489ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023904 | Disease | p.CYS2500ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002344 | Disease | p.CYS2511ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023909 | Disease | p.CYS2571ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023911 | Disease | p.CYS2605ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066010 | Disease | p.CYS2646ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_065983 | Disease | p.CYS611ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002288 | Disease | p.CYS661ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017983 | Disease | p.CYS683ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017990 | Disease | p.CYS781ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002294 | Disease | p.CYS862ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017992 | Disease | p.CYS890ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017993 | Disease | p.CYS908ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002295 | Disease | p.CYS926ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002297 | Disease | p.CYS996ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002304 | Disease | p.CYS1055GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_064503 | Disease | p.CYS1068GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002310 | Disease | p.CYS1117GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023880 | Disease | p.CYS1284GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_064048 | Disease | p.CYS1577GLY | Stiff skin syndrome (SSKS) |
Swiss-Prot | VAR_002328 | Disease | p.CYS1610GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023888 | Disease | p.CYS1631GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023896 | Disease | p.CYS1928GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018031 | Disease | p.CYS2221GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018043 | Disease | p.CYS2652GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002282 | Disease | p.CYS476GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_065984 | Disease | p.CYS617GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002293 | Disease | p.CYS750GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017988 | Disease | p.CYS776GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_065981 | Disease | p.CYS80GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023872 | Disease | p.CYS890GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017995 | Disease | p.CYS921GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023866 | Disease | p.CYS628LYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_065993 | Disease | p.CYS1350PHE | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023886 | Disease | p.CYS1564PHE | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002327 | Disease | p.CYS1589PHE | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002279 | Disease | p.CYS166PHE | Marfan syndrome (MFS) |
Swiss-Prot | VAR_055729 | Polymorphism | p.CYS1672PHE | N/A |
Swiss-Prot | VAR_018015 | Disease | p.CYS1770PHE | Marfan syndrome (MFS) |
Swiss-Prot | VAR_055731 | Polymorphism | p.CYS2053PHE | N/A |
Swiss-Prot | VAR_055733 | Polymorphism | p.CYS2170PHE | N/A |
Swiss-Prot | VAR_023901 | Disease | p.CYS2221PHE | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018039 | Disease | p.CYS2581PHE | Marfan syndrome (MFS) |
Swiss-Prot | VAR_010776 | Disease | p.CYS504PHE | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017986 | Disease | p.CYS734PHE | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017968 | Disease | p.CYS89PHE | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023875 | Disease | p.CYS1153SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002323 | Disease | p.CYS1249SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023879 | Disease | p.CYS1278SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023881 | Disease | p.CYS1333SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018007 | Disease | p.CYS1374SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018011 | Disease | p.CYS1429SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017971 | Disease | p.CYS154SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_064046 | Disease | p.CYS1564SER | Stiff skin syndrome (SSKS) |
Swiss-Prot | VAR_002280 | Disease | p.CYS166SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018020 | Disease | p.CYS1806SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_010779 | Disease | p.CYS1833SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066001 | Disease | p.CYS1934SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002338 | Disease | p.CYS2221SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002341 | Disease | p.CYS2307SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066008 | Disease | p.CYS2442SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023910 | Disease | p.CYS2592SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023915 | Disease | p.CYS2663SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017979 | Disease | p.CYS652SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017991 | Disease | p.CYS816SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_065988 | Disease | p.CYS853SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017998 | Disease | p.CYS1055TRP | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002309 | Disease | p.CYS1086TRP | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002319 | Disease | p.CYS1171TRP | Marfan syndrome (MFS) |
Swiss-Prot | VAR_065995 | Disease | p.CYS1431TRP | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066533 | Disease | p.CYS1719TRP | Geleophysic dysplasia 2 (GPHYSD2) |
Swiss-Prot | VAR_018018 | Disease | p.CYS1793TRP | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002333 | Disease | p.CYS2099TRP | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002337 | Disease | p.CYS2151TRP | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018037 | Disease | p.CYS2442TRP | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023906 | Disease | p.CYS2535TRP | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017978 | Disease | p.CYS598TRP | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017984 | Disease | p.CYS685TRP | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017997 | Disease | p.CYS1044TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017999 | Disease | p.CYS1055TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002311 | Disease | p.CYS1117TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_010777 | Disease | p.CYS1129TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002316 | Disease | p.CYS1153TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002321 | Disease | p.CYS1223TYR | Shprintzen-Goldberg craniosynostosis syndrome (SGS) |
Swiss-Prot | VAR_023860 | Disease | p.CYS123TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002322 | Disease | p.CYS1242TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_065992 | Disease | p.CYS1284TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002278 | Disease | p.CYS129TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018005 | Disease | p.CYS1339TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_065996 | Disease | p.CYS1431TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018013 | Disease | p.CYS1564TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023889 | Disease | p.CYS1663TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066531 | Disease | p.CYS1706TYR | Geleophysic dysplasia 2 (GPHYSD2) |
Swiss-Prot | VAR_066538 | Disease | p.CYS1733TYR | Geleophysic dysplasia 2 (GPHYSD2) |
Swiss-Prot | VAR_018017 | Disease | p.CYS1791TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023891 | Disease | p.CYS1806TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018021 | Disease | p.CYS1835TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023892 | Disease | p.CYS1876TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023895 | Disease | p.CYS1900TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023897 | Disease | p.CYS1928TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018025 | Disease | p.CYS1971TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018026 | Disease | p.CYS1977TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018027 | Disease | p.CYS1998TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023898 | Disease | p.CYS2038TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002334 | Disease | p.CYS2111TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_010780 | Disease | p.CYS2142TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018035 | Disease | p.CYS2339TYR | Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) |
Swiss-Prot | VAR_018036 | Disease | p.CYS2406TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023905 | Disease | p.CYS2500TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023912 | Disease | p.CYS2605TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_058090 | Polymorphism | p.CYS472TYR | N/A |
Swiss-Prot | VAR_065982 | Disease | p.CYS499TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023865 | Disease | p.CYS541TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017975 | Disease | p.CYS570TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002286 | Disease | p.CYS587TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017977 | Disease | p.CYS596TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017981 | Disease | p.CYS661TYR | Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) |
Swiss-Prot | VAR_065985 | Disease | p.CYS685TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002290 | Disease | p.CYS711TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017987 | Disease | p.CYS748TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017989 | Disease | p.CYS776TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023870 | Disease | p.CYS781TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_065986 | Disease | p.CYS790TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_065987 | Disease | p.CYS811TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023871 | Disease | p.CYS832TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_065989 | Disease | p.CYS926TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018003 | Disease | p.GLU1325GLN | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018002 | Disease | p.GLU1200GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066002 | Disease | p.GLU1976GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017994 | Disease | p.GLU913GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002307 | Disease | p.GLU1073LYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018006 | Disease | p.GLU1366LYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002342 | Disease | p.GLU2447LYS | Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) |
Swiss-Prot | VAR_023908 | Disease | p.GLU2570LYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023913 | Polymorphism | p.GLU2610LYS | N/A |
Swiss-Prot | VAR_002298 | Disease | p.GLY1013ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023907 | Disease | p.GLY2536ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018041 | Disease | p.GLY2618ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002346 | Disease | p.GLY2627ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_017996 | Disease | p.GLY985ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023873 | Disease | p.GLY1058ASP | Marfan syndrome (MFS) |
Swiss-Prot | VAR_065991 | Disease | p.GLY1185ASP | Marfan syndrome (MFS) |
Swiss-Prot | VAR_064049 | Disease | p.GLY1594ASP | Stiff skin syndrome (SSKS) |
Swiss-Prot | VAR_017976 | Disease | p.GLY592ASP | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066000 | Disease | p.GLY1838CYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018044 | Disease | p.GLY2668CYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023884 | Disease | p.GLY1475GLU | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018019 | Disease | p.GLY1796GLU | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018319 | Disease | p.GLY985GLU | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002312 | Polymorphism | p.GLY1127SER | N/A |
Swiss-Prot | VAR_023885 | Disease | p.GLY1475SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066542 | Disease | p.GLY1762SER | Geleophysic dysplasia 2 (GPHYSD2) |
Swiss-Prot | VAR_055725 | Polymorphism | p.GLY363SER | N/A |
Swiss-Prot | VAR_017974 | Disease | p.GLY560SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066535 | Disease | p.GLY1726VAL | Acromicric dysplasia (ACMICD) |
Swiss-Prot | VAR_055723 | Polymorphism | p.HIS133GLN | N/A |
Swiss-Prot | VAR_002345 | Disease | p.HIS2623PRO | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002301 | Disease | p.ILE1048THR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018022 | Disease | p.ILE1909THR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066005 | Disease | p.ILE2185THR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018033 | Disease | p.ILE2269THR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018040 | Disease | p.ILE2585THR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_055724 | Polymorphism | p.ILE329THR | N/A |
Swiss-Prot | VAR_055726 | Polymorphism | p.ILE1048VAL | N/A |
Swiss-Prot | VAR_002300 | Disease | p.LYS1043ARG | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002299 | Disease | p.LYS1023ASN | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066532 | Disease | p.MET1714ARG | Acromicric dysplasia (ACMICD) |
Swiss-Prot | VAR_023887 | Disease | p.MET1576THR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002315 | Polymorphism | p.PRO1148ALA | N/A |
Swiss-Prot | VAR_018010 | Disease | p.PRO1424ALA | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018030 | Disease | p.PRO2154ARG | Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) |
Swiss-Prot | VAR_065990 | Disease | p.PRO1090SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023883 | Disease | p.PRO1424SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002330 | Disease | p.PRO1837SER | Marfan syndrome (MFS) |
Swiss-Prot | VAR_055734 | Polymorphism | p.PRO2278SER | N/A |
Swiss-Prot | VAR_066540 | Disease | p.SER1750ARG | Acromicric dysplasia (ACMICD) |
Swiss-Prot | VAR_017970 | Disease | p.SER115CYS | Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) |
Swiss-Prot | VAR_066534 | Disease | p.SER1722CYS | Acromicric dysplasia (ACMICD) |
Swiss-Prot | VAR_065997 | Polymorphism | p.SER1481GLY | N/A |
Swiss-Prot | VAR_017982 | Disease | p.SER681TYR | Marfan syndrome (MFS) |
Swiss-Prot | VAR_065994 | Disease | p.THR1401ALA | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023893 | Disease | p.THR1887ILE | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018028 | Polymorphism | p.THR2101MET | N/A |
Swiss-Prot | VAR_064047 | Disease | p.TRP1570CYS | Stiff skin syndrome (SSKS) |
Swiss-Prot | VAR_017973 | Disease | p.TRP366CYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002281 | Disease | p.TRP217GLY | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023878 | Disease | p.TYR1261ASP | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066529 | Disease | p.TYR1699ASP | Geleophysic dysplasia 2 (GPHYSD2) |
Swiss-Prot | VAR_018000 | Disease | p.TYR1101CYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023877 | Disease | p.TYR1219CYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_010778 | Disease | p.TYR1261CYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066527 | Disease | p.TYR1696CYS | Geleophysic dysplasia 2 (GPHYSD2) |
Swiss-Prot | VAR_066528 | Disease | p.TYR1699CYS | Geleophysic dysplasia 2 (GPHYSD2) |
Swiss-Prot | VAR_066530 | Disease | p.TYR1700CYS | Acromicric dysplasia (ACMICD) |
Swiss-Prot | VAR_023859 | Disease | p.TYR20CYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_018038 | Disease | p.TYR2474CYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023914 | Disease | p.TYR2629CYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_023868 | Disease | p.TYR635CYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_002292 | Disease | p.TYR746CYS | Marfan syndrome (MFS) |
Swiss-Prot | VAR_066011 | Polymorphism | p.TYR2793HIS | N/A |
Swiss-Prot | VAR_055732 | Polymorphism | p.TYR2113PHE | N/A |
Swiss-Prot | VAR_018001 | Polymorphism | p.VAL1128ILE | N/A |
Swiss-Prot | VAR_055730 | Polymorphism | p.VAL2018ILE | N/A |
Swiss-Prot | VAR_002296 | Disease | p.VAL984ILE | Marfan syndrome (MFS) |