NM_000203.5(IDUA):c.1345C>A (p.His449Asn)
|
rs532731688
|
0.00315
|
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn)
|
rs183347428
|
0.00166
|
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)
|
rs201826605
|
0.00080
|
NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr)
|
rs140564189
|
0.00057
|
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro)
|
rs781136336
|
0.00035
|
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys)
|
rs202051939
|
0.00025
|
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe)
|
rs187833337
|
0.00017
|
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys)
|
rs200237798
|
0.00016
|
NM_000203.5(IDUA):c.406G>A (p.Ala136Thr)
|
rs112571714
|
0.00015
|
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly)
|
rs121965025
|
0.00013
|
NM_000203.5(IDUA):c.1781C>T (p.Pro594Leu)
|
rs143621769
|
0.00011
|
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)
|
rs201268637
|
0.00009
|
NM_000203.5(IDUA):c.767T>C (p.Leu256Pro)
|
rs373037758
|
0.00008
|
NM_000203.5(IDUA):c.1001T>G (p.Leu334Arg)
|
rs753372554
|
0.00006
|
NM_000203.5(IDUA):c.1339C>T (p.Arg447Cys)
|
rs866224971
|
0.00006
|
NM_000203.5(IDUA):c.1403-6C>G
|
rs764919689
|
0.00006
|
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)
|
rs752337969
|
0.00006
|
NM_000203.5(IDUA):c.1501T>C (p.Phe501Leu)
|
rs776590488
|
0.00004
|
NM_000203.5(IDUA):c.581C>G (p.Thr194Ser)
|
rs575667885
|
0.00004
|
NM_000203.5(IDUA):c.848T>C (p.Ile283Thr)
|
rs555091763
|
0.00004
|
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu)
|
rs772416503
|
0.00003
|
NM_000203.5(IDUA):c.1622G>T (p.Cys541Phe)
|
rs950213013
|
0.00003
|
NM_000203.5(IDUA):c.1772C>T (p.Ala591Val)
|
rs138826105
|
0.00003
|
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val)
|
rs527336882
|
0.00002
|
NM_000203.5(IDUA):c.1247A>C (p.His416Pro)
|
rs1419725967
|
0.00002
|
NM_000203.5(IDUA):c.1529C>T (p.Pro510Leu)
|
rs794727017
|
0.00002
|
NM_000203.5(IDUA):c.1828+5G>A
|
rs565649151
|
0.00002
|
NM_000203.5(IDUA):c.1051G>A (p.Ala351Thr)
|
rs772855552
|
0.00001
|
NM_000203.5(IDUA):c.1070C>T (p.Pro357Leu)
|
rs918621189
|
0.00001
|
NM_000203.5(IDUA):c.1102C>T (p.Arg368Cys)
|
rs754681846
|
0.00001
|
NM_000203.5(IDUA):c.1112T>A (p.Val371Asp)
|
rs1475290359
|
0.00001
|
NM_000203.5(IDUA):c.1127C>T (p.Pro376Leu)
|
rs1038727823
|
0.00001
|
NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg)
|
rs1553917309
|
0.00001
|
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)
|
rs794727896
|
0.00001
|
NM_000203.5(IDUA):c.1168A>G (p.Met390Val)
|
rs1455637147
|
0.00001
|
NM_000203.5(IDUA):c.1208C>T (p.Ala403Val)
|
rs1253435204
|
0.00001
|
NM_000203.5(IDUA):c.1264G>C (p.Ala422Pro)
|
rs1392555572
|
0.00001
|
NM_000203.5(IDUA):c.1490C>A (p.Thr497Lys)
|
rs1436395282
|
0.00001
|
NM_000203.5(IDUA):c.1499A>G (p.Gln500Arg)
|
rs1715216061
|
0.00001
|
NM_000203.5(IDUA):c.1646G>T (p.Gly549Val)
|
rs1171379194
|
0.00001
|
NM_000203.5(IDUA):c.1651G>C (p.Val551Leu)
|
rs778877259
|
0.00001
|
NM_000203.5(IDUA):c.1717G>T (p.Val573Leu)
|
rs146588560
|
0.00001
|
NM_000203.5(IDUA):c.1744G>A (p.Glu582Lys)
|
rs762037549
|
0.00001
|
NM_000203.5(IDUA):c.497G>C (p.Arg166Thr)
|
rs762623046
|
0.00001
|
NM_000203.5(IDUA):c.514G>T (p.Val172Phe)
|
rs139155899
|
0.00001
|
NM_000203.5(IDUA):c.535A>G (p.Thr179Ala)
|
rs766030255
|
0.00001
|
NM_000203.5(IDUA):c.619G>C (p.Glu207Gln)
|
rs1553917102
|
0.00001
|
NM_000203.5(IDUA):c.649C>T (p.Arg217Trp)
|
rs1178237301
|
0.00001
|
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)
|
rs546933529
|
0.00001
|
NM_000203.5(IDUA):c.784C>T (p.His262Tyr)
|
rs375305122
|
0.00001
|
NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg)
|
rs2153022349
|
|
NM_000203.5(IDUA):c.1040G>A (p.Ser347Asn)
|
|
|
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr)
|
rs780106243
|
|
NM_000203.5(IDUA):c.1042_1062dup (p.Ser354_Tyr355insAsnAspAsnAlaPheLeuSer)
|
|
|
NM_000203.5(IDUA):c.1048A>G (p.Asn350Asp)
|
|
|
NM_000203.5(IDUA):c.1054T>C (p.Phe352Leu)
|
|
|
NM_000203.5(IDUA):c.1080C>A (p.Phe360Leu)
|
|
|
NM_000203.5(IDUA):c.1081G>C (p.Ala361Pro)
|
|
|
NM_000203.5(IDUA):c.1088G>T (p.Arg363Leu)
|
|
|
NM_000203.5(IDUA):c.1099_1100delinsTT (p.Ala367Leu)
|
|
|
NM_000203.5(IDUA):c.1103G>A (p.Arg368His)
|
|
|
NM_000203.5(IDUA):c.1121C>T (p.Thr374Ile)
|
|
|
NM_000203.5(IDUA):c.1135G>A (p.Val379Met)
|
|
|
NM_000203.5(IDUA):c.1135G>T (p.Val379Leu)
|
|
|
NM_000203.5(IDUA):c.1140G>C (p.Gln380His)
|
|
|
NM_000203.5(IDUA):c.1147C>G (p.Arg383Gly)
|
|
|
NM_000203.5(IDUA):c.1147C>T (p.Arg383Cys)
|
|
|
NM_000203.5(IDUA):c.1162A>C (p.Thr388Pro)
|
|
|
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met)
|
rs794727896
|
|
NM_000203.5(IDUA):c.1214T>G (p.Val405Gly)
|
|
|
NM_000203.5(IDUA):c.1238_1264del (p.Asp413_Leu421del)
|
rs1168660379
|
|
NM_000203.5(IDUA):c.1244A>G (p.Asn415Ser)
|
|
|
NM_000203.5(IDUA):c.1258G>A (p.Val420Ile)
|
|
|
NM_000203.5(IDUA):c.1271C>A (p.Ala424Asp)
|
rs886043839
|
|
NM_000203.5(IDUA):c.1274A>T (p.His425Leu)
|
|
|
NM_000203.5(IDUA):c.1275C>G (p.His425Gln)
|
|
|
NM_000203.5(IDUA):c.1294G>A (p.Asp432Asn)
|
|
|
NM_000203.5(IDUA):c.1302G>C (p.Trp434Cys)
|
rs398123253
|
|
NM_000203.5(IDUA):c.1303C>G (p.Arg435Gly)
|
rs1188900288
|
|
NM_000203.5(IDUA):c.1303C>T (p.Arg435Cys)
|
|
|
NM_000203.5(IDUA):c.1304G>A (p.Arg435His)
|
|
|
NM_000203.5(IDUA):c.1319T>C (p.Ile440Thr)
|
|
|
NM_000203.5(IDUA):c.1328G>A (p.Ser443Asn)
|
|
|
NM_000203.5(IDUA):c.1330G>A (p.Asp444Asn)
|
|
|
NM_000203.5(IDUA):c.1331A>G (p.Asp444Gly)
|
|
|
NM_000203.5(IDUA):c.1331_1342dup (p.Arg447_Ala448insAspAspThrArg)
|
|
|
NM_000203.5(IDUA):c.1334A>G (p.Asp445Gly)
|
|
|
NM_000203.5(IDUA):c.1337C>A (p.Thr446Asn)
|
|
|
NM_000203.5(IDUA):c.1349C>G (p.Pro450Arg)
|
rs895626490
|
|
NM_000203.5(IDUA):c.1381C>T (p.Arg461Cys)
|
|
|
NM_000203.5(IDUA):c.1382G>A (p.Arg461His)
|
|
|
NM_000203.5(IDUA):c.1412A>G (p.Tyr471Cys)
|
|
|
NM_000203.5(IDUA):c.1430A>G (p.Asp477Gly)
|
|
|
NM_000203.5(IDUA):c.1434C>A (p.Asn478Lys)
|
|
|
NM_000203.5(IDUA):c.1444A>G (p.Ser482Gly)
|
|
|
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)
|
rs375819348
|
|
NM_000203.5(IDUA):c.1483T>C (p.Phe495Leu)
|
|
|
NM_000203.5(IDUA):c.1485C>A (p.Phe495Leu)
|
|
|
NM_000203.5(IDUA):c.1486C>T (p.Pro496Ser)
|
|
|
NM_000203.5(IDUA):c.1491G>T (p.Thr497=)
|
rs374102243
|
|
NM_000203.5(IDUA):c.1504C>T (p.Arg502Trp)
|
|
|
NM_000203.5(IDUA):c.1505G>A (p.Arg502Gln)
|
rs769566506
|
|
NM_000203.5(IDUA):c.1505G>C (p.Arg502Pro)
|
|
|
NM_000203.5(IDUA):c.1507C>T (p.Arg503Cys)
|
|
|
NM_000203.5(IDUA):c.1509_1511del (p.Met504del)
|
|
|
NM_000203.5(IDUA):c.1525-3dup
|
rs762593235
|
|
NM_000203.5(IDUA):c.1540_1541insGGCGCGTGGCCGCGG (p.Ala513_Ala514insGlyArgValAlaAla)
|
|
|
NM_000203.5(IDUA):c.1568G>A (p.Arg523His)
|
|
|
NM_000203.5(IDUA):c.1589T>G (p.Leu530Arg)
|
|
|
NM_000203.5(IDUA):c.1597C>T (p.Pro533Ser)
|
|
|
NM_000203.5(IDUA):c.1613T>G (p.Val538Gly)
|
|
|
NM_000203.5(IDUA):c.1615C>T (p.His539Tyr)
|
|
|
NM_000203.5(IDUA):c.1621T>C (p.Cys541Arg)
|
|
|
NM_000203.5(IDUA):c.1643C>T (p.Pro548Leu)
|
|
|
NM_000203.5(IDUA):c.1664G>A (p.Arg555His)
|
|
|
NM_000203.5(IDUA):c.1666G>C (p.Ala556Pro)
|
rs771540729
|
|
NM_000203.5(IDUA):c.1673C>T (p.Pro558Leu)
|
|
|
NM_000203.5(IDUA):c.1676T>G (p.Leu559Arg)
|
|
|
NM_000203.5(IDUA):c.1709A>G (p.Asp570Gly)
|
|
|
NM_000203.5(IDUA):c.1745A>C (p.Glu582Ala)
|
|
|
NM_000203.5(IDUA):c.1765G>T (p.Gly589Cys)
|
rs144941693
|
|
NM_000203.5(IDUA):c.1809C>A (p.Asn603Lys)
|
|
|
NM_000203.5(IDUA):c.1816G>T (p.Val606Leu)
|
|
|
NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln)
|
rs372137794
|
|
NM_000203.5(IDUA):c.1862G>A (p.Arg621Gln)
|
|
|
NM_000203.5(IDUA):c.1870G>T (p.Asp624Tyr)
|
|
|
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys)
|
rs587779401
|
|
NM_000203.5(IDUA):c.1882C>G (p.Arg628Gly)
|
|
|
NM_000203.5(IDUA):c.1883G>T (p.Arg628Leu)
|
|
|
NM_000203.5(IDUA):c.1911_1931del (p.Tyr638_Pro644del)
|
|
|
NM_000203.5(IDUA):c.341T>G (p.Leu114Arg)
|
|
|
NM_000203.5(IDUA):c.355G>T (p.Asp119Tyr)
|
|
|
NM_000203.5(IDUA):c.356A>C (p.Asp119Ala)
|
|
|
NM_000203.5(IDUA):c.367G>A (p.Glu123Lys)
|
rs577729544
|
|
NM_000203.5(IDUA):c.386-44G>A
|
|
|
NM_000203.5(IDUA):c.416A>C (p.His139Pro)
|
rs2153021706
|
|
NM_000203.5(IDUA):c.463T>G (p.Leu155Val)
|
|
|
NM_000203.5(IDUA):c.487T>C (p.Tyr163His)
|
|
|
NM_000203.5(IDUA):c.493G>A (p.Gly165Ser)
|
|
|
NM_000203.5(IDUA):c.502G>C (p.Gly168Arg)
|
rs753308650
|
|
NM_000203.5(IDUA):c.514G>A (p.Val172Ile)
|
|
|
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg)
|
rs875989946
|
|
NM_000203.5(IDUA):c.531C>G (p.Phe177Leu)
|
|
|
NM_000203.5(IDUA):c.532G>C (p.Glu178Gln)
|
|
|
NM_000203.5(IDUA):c.534G>T (p.Glu178Asp)
|
|
|
NM_000203.5(IDUA):c.535A>T (p.Thr179Ser)
|
|
|
NM_000203.5(IDUA):c.542A>G (p.Asn181Ser)
|
|
|
NM_000203.5(IDUA):c.547C>G (p.Pro183Ala)
|
|
|
NM_000203.5(IDUA):c.547C>T (p.Pro183Ser)
|
|
|
NM_000203.5(IDUA):c.550G>T (p.Asp184Tyr)
|
|
|
NM_000203.5(IDUA):c.551A>G (p.Asp184Gly)
|
|
|
NM_000203.5(IDUA):c.579G>A (p.Met193Ile)
|
rs2153021918
|
|
NM_000203.5(IDUA):c.590-45G>A
|
rs6829789
|
|
NM_000203.5(IDUA):c.590-8C>G
|
rs6848974
|
|
NM_000203.5(IDUA):c.618G>A (p.Ser206=)
|
rs377312287
|
|
NM_000203.5(IDUA):c.628C>G (p.Arg210Gly)
|
|
|
NM_000203.5(IDUA):c.629G>A (p.Arg210His)
|
|
|
NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup)
|
rs760582777
|
|
NM_000203.5(IDUA):c.639C>G (p.Ser213Arg)
|
rs1383674405
|
|
NM_000203.5(IDUA):c.640_642dup (p.Pro214dup)
|
rs764105238
|
|
NM_000203.5(IDUA):c.655G>C (p.Gly219Arg)
|
|
|
NM_000203.5(IDUA):c.664G>A (p.Gly222Ser)
|
|
|
NM_000203.5(IDUA):c.664G>T (p.Gly222Cys)
|
rs1367413817
|
|
NM_000203.5(IDUA):c.667G>T (p.Asp223Tyr)
|
rs183347428
|
|
NM_000203.5(IDUA):c.670T>C (p.Ser224Pro)
|
|
|
NM_000203.5(IDUA):c.707G>A (p.Gly236Asp)
|
|
|
NM_000203.5(IDUA):c.718C>G (p.His240Asp)
|
|
|
NM_000203.5(IDUA):c.720C>G (p.His240Gln)
|
rs1715096917
|
|
NM_000203.5(IDUA):c.726C>A (p.His242Gln)
|
|
|
NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del)
|
rs764800004
|
|
NM_000203.5(IDUA):c.746C>T (p.Thr249Ile)
|
|
|
NM_000203.5(IDUA):c.749G>T (p.Gly250Val)
|
|
|
NM_000203.5(IDUA):c.758G>A (p.Gly253Asp)
|
|
|
NM_000203.5(IDUA):c.773A>G (p.Tyr258Cys)
|
|
|
NM_000203.5(IDUA):c.775A>C (p.Ile259Leu)
|
rs2153022099
|
|
NM_000203.5(IDUA):c.782T>A (p.Leu261His)
|
|
|
NM_000203.5(IDUA):c.785A>G (p.His262Arg)
|
|
|
NM_000203.5(IDUA):c.792+38_793-24del
|
|
|
NM_000203.5(IDUA):c.792G>T (p.Lys264Asn)
|
|
|
NM_000203.5(IDUA):c.793-9C>A
|
|
|
NM_000203.5(IDUA):c.793G>A (p.Gly265Ser)
|
|
|
NM_000203.5(IDUA):c.794G>A (p.Gly265Asp)
|
|
|
NM_000203.5(IDUA):c.806C>A (p.Ser269Tyr)
|
|
|
NM_000203.5(IDUA):c.814A>T (p.Ile272Phe)
|
|
|
NM_000203.5(IDUA):c.828G>C (p.Glu276Asp)
|
|
|
NM_000203.5(IDUA):c.845A>T (p.Gln282Leu)
|
rs886042832
|
|
NM_000203.5(IDUA):c.859T>C (p.Phe287Leu)
|
|
|
NM_000203.5(IDUA):c.880C>A (p.Pro294Thr)
|
|
|
NM_000203.5(IDUA):c.894C>A (p.Asp298Glu)
|
|
|
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)
|
rs121965030
|
|
NM_000203.5(IDUA):c.900G>A (p.Ala300=)
|
rs1715120552
|
|
NM_000203.5(IDUA):c.904C>A (p.Pro302Thr)
|
rs1715120993
|
|
NM_000203.5(IDUA):c.904C>T (p.Pro302Ser)
|
|
|
NM_000203.5(IDUA):c.920C>T (p.Ser307Phe)
|
|
|
NM_000203.5(IDUA):c.925C>A (p.Pro309Thr)
|
|
|
NM_000203.5(IDUA):c.932C>G (p.Pro311Arg)
|
|
|
NM_000203.5(IDUA):c.952T>C (p.Tyr318His)
|
|
|
NM_000203.5(IDUA):c.955G>A (p.Ala319Thr)
|
|
|
NM_000203.5(IDUA):c.956C>T (p.Ala319Val)
|
rs781534097
|
|
NM_000203.5(IDUA):c.961A>G (p.Met321Val)
|
|
|
NM_000203.5(IDUA):c.962T>C (p.Met321Thr)
|
|
|
NM_000203.5(IDUA):c.993C>G (p.Asn331Lys)
|
|
|
NM_000203.5(IDUA):c.995T>C (p.Leu332Pro)
|
rs1222686614
|
|