NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
|
rs11934801
|
0.01974
|
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.408C>T (p.Ala136=)
|
rs138195998
|
0.00081
|
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.493+7G>A
|
rs200509712
|
0.00052
|
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)
|
rs150763745
|
0.00043
|
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.1765G>A (p.Gly589Ser)
|
rs144941693
|
0.00024
|
NM_000203.5(IDUA):c.1002G>A (p.Leu334=)
|
rs370582480
|
0.00020
|
NM_000203.5(IDUA):c.1332C>T (p.Asp444=)
|
rs545473192
|
0.00020
|
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe)
|
rs187833337
|
0.00017
|
NM_000203.5(IDUA):c.630C>T (p.Arg210=)
|
rs376012666
|
0.00017
|
NM_000203.5(IDUA):c.1191T>G (p.Asp397Glu)
|
rs1462850727
|
0.00016
|
NM_000203.5(IDUA):c.1863A>C (p.Arg621=)
|
rs762586
|
0.00016
|
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys)
|
rs200237798
|
0.00016
|
NM_000203.5(IDUA):c.663C>G (p.Pro221=)
|
rs368553582
|
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.1343C>A (p.Ala448Asp)
|
rs565375837
|
0.00011
|
NM_000203.5(IDUA):c.1781C>T (p.Pro594Leu)
|
rs143621769
|
0.00011
|
NM_000203.5(IDUA):c.1402+8G>A
|
rs1315308939
|
0.00010
|
NM_000203.5(IDUA):c.1727+4C>T
|
rs1202966289
|
0.00010
|
NM_000203.5(IDUA):c.932C>T (p.Pro311Leu)
|
rs377684568
|
0.00010
|
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.1910C>T (p.Pro637Leu)
|
rs371369206
|
0.00007
|
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.1800G>A (p.Ser600=)
|
rs763047621
|
0.00006
|
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)
|
rs752337969
|
0.00006
|
NM_000203.5(IDUA):c.981G>T (p.Ala327=)
|
rs372379342
|
0.00006
|
NM_000203.5(IDUA):c.1728-9C>T
|
rs374775605
|
0.00005
|
NM_000203.5(IDUA):c.682C>T (p.Pro228Ser)
|
rs775641597
|
0.00005
|
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly)
|
rs202191662
|
0.00004
|
NM_000203.5(IDUA):c.1482C>G (p.Val494=)
|
rs999890083
|
0.00004
|
NM_000203.5(IDUA):c.1501T>C (p.Phe501Leu)
|
rs776590488
|
0.00004
|
NM_000203.5(IDUA):c.1633G>A (p.Glu545Lys)
|
rs1257968688
|
0.00004
|
NM_000203.5(IDUA):c.340C>A (p.Leu114Met)
|
rs372934646
|
0.00004
|
NM_000203.5(IDUA):c.581C>G (p.Thr194Ser)
|
rs575667885
|
0.00004
|
NM_000203.5(IDUA):c.812C>T (p.Ser271Phe)
|
rs766950553
|
0.00004
|
NM_000203.5(IDUA):c.848T>C (p.Ile283Thr)
|
rs555091763
|
0.00004
|
NM_000203.5(IDUA):c.957G>C (p.Ala319=)
|
rs748350723
|
0.00004
|
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr)
|
rs752725918
|
0.00003
|
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.1195G>A (p.Glu399Lys)
|
rs1034769935
|
0.00002
|
NM_000203.5(IDUA):c.1247A>C (p.His416Pro)
|
rs1419725967
|
0.00002
|
NM_000203.5(IDUA):c.1349C>A (p.Pro450His)
|
rs895626490
|
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.793-5C>T
|
rs773072991
|
0.00002
|
NM_000203.5(IDUA):c.946G>A (p.Val316Met)
|
rs755445369
|
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.1087C>T (p.Arg363Cys)
|
rs750496798
|
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.1169T>C (p.Met390Thr)
|
rs1157083700
|
0.00001
|
NM_000203.5(IDUA):c.1186C>T (p.Leu396=)
|
rs1011474273
|
0.00001
|
NM_000203.5(IDUA):c.1208C>T (p.Ala403Val)
|
rs1253435204
|
0.00001
|
NM_000203.5(IDUA):c.1226G>A (p.Gly409Glu)
|
rs1465083754
|
0.00001
|
NM_000203.5(IDUA):c.1264G>C (p.Ala422Pro)
|
rs1392555572
|
0.00001
|
NM_000203.5(IDUA):c.1289C>T (p.Pro430Leu)
|
rs1197582697
|
0.00001
|
NM_000203.5(IDUA):c.1398C>T (p.Gly466=)
|
rs1370338557
|
0.00001
|
NM_000203.5(IDUA):c.1403-11A>G
|
rs1335436961
|
0.00001
|
NM_000203.5(IDUA):c.1452C>A (p.Asp484Glu)
|
rs4690224
|
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.1716C>G (p.His572Gln)
|
rs1253075699
|
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.1771G>A (p.Ala591Thr)
|
rs398123257
|
0.00001
|
NM_000203.5(IDUA):c.1802C>T (p.Thr601Ile)
|
rs200089576
|
0.00001
|
NM_000203.5(IDUA):c.1949C>T (p.Pro650Leu)
|
rs751132616
|
0.00001
|
NM_000203.5(IDUA):c.1957C>T (p.Pro653Ser)
|
rs970991915
|
0.00001
|
NM_000203.5(IDUA):c.300G>T (p.Arg100Ser)
|
rs1340970137
|
0.00001
|
NM_000203.5(IDUA):c.357C>T (p.Asp119=)
|
rs1262464994
|
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.557A>G (p.His186Arg)
|
rs758439259
|
0.00001
|
NM_000203.5(IDUA):c.600C>G (p.Asn200Lys)
|
rs763375487
|
0.00001
|
NM_000203.5(IDUA):c.617C>T (p.Ser206Leu)
|
rs756131787
|
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.692C>T (p.Ser231Phe)
|
rs933301757
|
0.00001
|
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)
|
rs546933529
|
0.00001
|
NM_000203.5(IDUA):c.770A>G (p.Asp257Gly)
|
rs1001962975
|
0.00001
|
NM_000203.5(IDUA):c.784C>T (p.His262Tyr)
|
rs375305122
|
0.00001
|
NM_000203.5(IDUA):c.814A>C (p.Ile272Leu)
|
rs536381533
|
0.00001
|
NM_000203.5(IDUA):c.850C>T (p.Arg284Trp)
|
rs1426919426
|
0.00001
|
NM_000203.5(IDUA):c.972+8G>A
|
rs774327124
|
0.00001
|
NM_000203.5(IDUA):c.973-4G>A
|
rs745832717
|
0.00001
|
NM_000203.5(IDUA):c.*100A>G
|
rs1049376214
|
|
NM_000203.5(IDUA):c.1007A>C (p.Asn336Thr)
|
|
|
NM_000203.5(IDUA):c.1016C>T (p.Ser339Phe)
|
|
|
NM_000203.5(IDUA):c.1030G>C (p.Ala344Pro)
|
rs754095810
|
|
NM_000203.5(IDUA):c.1033C>T (p.Leu345Phe)
|
|
|
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.1045G>C (p.Asp349His)
|
|
|
NM_000203.5(IDUA):c.1048A>G (p.Asn350Asp)
|
|
|
NM_000203.5(IDUA):c.1049A>G (p.Asn350Ser)
|
rs1577541140
|
|
NM_000203.5(IDUA):c.1052C>T (p.Ala351Val)
|
rs1715142270
|
|
NM_000203.5(IDUA):c.1054T>C (p.Phe352Leu)
|
|
|
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)
|
rs1214495121
|
|
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.1090A>G (p.Thr364Ala)
|
rs1216054018
|
|
NM_000203.5(IDUA):c.1099_1100delinsTT (p.Ala367Leu)
|
|
|
NM_000203.5(IDUA):c.1103G>A (p.Arg368His)
|
|
|
NM_000203.5(IDUA):c.1105T>C (p.Phe369Leu)
|
rs1715147247
|
|
NM_000203.5(IDUA):c.1109A>G (p.Gln370Arg)
|
|
|
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser)
|
rs1553917304
|
|
NM_000203.5(IDUA):c.1115ACA[1] (p.Asn373del)
|
rs1715148258
|
|
NM_000203.5(IDUA):c.1121C>T (p.Thr374Ile)
|
|
|
NM_000203.5(IDUA):c.1123C>T (p.Arg375Cys)
|
|
|
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.1140G>T (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.1149C>T (p.Arg383=)
|
rs767632084
|
|
NM_000203.5(IDUA):c.1152G>C (p.Lys384Asn)
|
rs1244370377
|
|
NM_000203.5(IDUA):c.1153C>T (p.Pro385Ser)
|
|
|
NM_000203.5(IDUA):c.1160T>C (p.Leu387Pro)
|
rs1553917310
|
|
NM_000203.5(IDUA):c.1162A>C (p.Thr388Pro)
|
|
|
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met)
|
rs794727896
|
|
NM_000203.5(IDUA):c.1183CTG[1] (p.Leu396del)
|
|
|
NM_000203.5(IDUA):c.1188G>A (p.Leu396=)
|
rs747406598
|
|
NM_000203.5(IDUA):c.1189+5G>A
|
rs1553917318
|
|
NM_000203.5(IDUA):c.1190-10C>A
|
rs1443642527
|
|
NM_000203.5(IDUA):c.1207G>A (p.Ala403Thr)
|
rs1715176840
|
|
NM_000203.5(IDUA):c.1213G>A (p.Val405Met)
|
|
|
NM_000203.5(IDUA):c.1214T>G (p.Val405Gly)
|
|
|
NM_000203.5(IDUA):c.1222G>A (p.Ala408Thr)
|
|
|
NM_000203.5(IDUA):c.1228A>C (p.Thr410Pro)
|
|
|
NM_000203.5(IDUA):c.1230_1257delinsG (p.Asp413_Leu421del)
|
rs1553917376
|
|
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.1249_1275del (p.Thr417_His425del)
|
rs1450080299
|
|
NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys)
|
rs1464048268
|
|
NM_000203.5(IDUA):c.1258G>A (p.Val420Ile)
|
|
|
NM_000203.5(IDUA):c.1258G>T (p.Val420Phe)
|
|
|
NM_000203.5(IDUA):c.1262T>C (p.Leu421Pro)
|
rs2153022602
|
|
NM_000203.5(IDUA):c.1271C>A (p.Ala424Asp)
|
rs886043839
|
|
NM_000203.5(IDUA):c.1271C>T (p.Ala424Val)
|
|
|
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.1309G>C (p.Ala437Pro)
|
|
|
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.1340G>A (p.Arg447His)
|
|
|
NM_000203.5(IDUA):c.1349C>G (p.Pro450Arg)
|
rs895626490
|
|
NM_000203.5(IDUA):c.1351A>G (p.Asn451Asp)
|
|
|
NM_000203.5(IDUA):c.1358G>A (p.Ser453Asn)
|
rs2153022656
|
|
NM_000203.5(IDUA):c.1364C>T (p.Ala455Val)
|
|
|
NM_000203.5(IDUA):c.1366_1389del (p.Val456_Val463del)
|
rs1553917418
|
|
NM_000203.5(IDUA):c.1367T>G (p.Val456Gly)
|
rs1715192601
|
|
NM_000203.5(IDUA):c.1375C>T (p.Arg459Trp)
|
rs2153022668
|
|
NM_000203.5(IDUA):c.1376G>T (p.Arg459Leu)
|
rs1715193201
|
|
NM_000203.5(IDUA):c.1381C>T (p.Arg461Cys)
|
|
|
NM_000203.5(IDUA):c.1382G>A (p.Arg461His)
|
|
|
NM_000203.5(IDUA):c.1387G>C (p.Val463Leu)
|
|
|
NM_000203.5(IDUA):c.1390C>G (p.Pro464Ala)
|
rs888528622
|
|
NM_000203.5(IDUA):c.1391C>T (p.Pro464Leu)
|
|
|
NM_000203.5(IDUA):c.1402+5G>A
|
|
|
NM_000203.5(IDUA):c.1412A>G (p.Tyr471Cys)
|
|
|
NM_000203.5(IDUA):c.1424_1426del (p.Tyr475del)
|
rs1553917455
|
|
NM_000203.5(IDUA):c.1430A>G (p.Asp477Gly)
|
|
|
NM_000203.5(IDUA):c.1434C>A (p.Asn478Lys)
|
|
|
NM_000203.5(IDUA):c.1435G>A (p.Gly479Arg)
|
|
|
NM_000203.5(IDUA):c.1444A>G (p.Ser482Gly)
|
|
|
NM_000203.5(IDUA):c.1447C>A (p.Pro483Thr)
|
|
|
NM_000203.5(IDUA):c.1450G>A (p.Asp484Asn)
|
|
|
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu)
|
rs1715210316
|
|
NM_000203.5(IDUA):c.1474C>T (p.Arg492Trp)
|
rs778314567
|
|
NM_000203.5(IDUA):c.1475G>T (p.Arg492Leu)
|
|
|
NM_000203.5(IDUA):c.1477C>A (p.Pro493Thr)
|
rs894585162
|
|
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)
|
rs375819348
|
|
NM_000203.5(IDUA):c.1478C>T (p.Pro493Leu)
|
|
|
NM_000203.5(IDUA):c.1479C>A (p.Pro493=)
|
rs370394527
|
|
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.1489A>G (p.Thr497Ala)
|
|
|
NM_000203.5(IDUA):c.1491G>A (p.Thr497=)
|
rs374102243
|
|
NM_000203.5(IDUA):c.1491G>T (p.Thr497=)
|
rs374102243
|
|
NM_000203.5(IDUA):c.1498C>G (p.Gln500Glu)
|
|
|
NM_000203.5(IDUA):c.1503C>A (p.Phe501Leu)
|
|
|
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.1537_1538delinsTT (p.Ala513Leu)
|
|
|
NM_000203.5(IDUA):c.1540_1541insGGCGCGTGGCCGCGG (p.Ala513_Ala514insGlyArgValAlaAla)
|
|
|
NM_000203.5(IDUA):c.1543C>T (p.Pro515Ser)
|
|
|
NM_000203.5(IDUA):c.1547G>A (p.Arg516His)
|
|
|
NM_000203.5(IDUA):c.1550C>G (p.Pro517Arg)
|
|
|
NM_000203.5(IDUA):c.1550C>T (p.Pro517Leu)
|
rs1051249739
|
|
NM_000203.5(IDUA):c.1558G>C (p.Ala520Pro)
|
|
|
NM_000203.5(IDUA):c.1561G>A (p.Gly521Ser)
|
|
|
NM_000203.5(IDUA):c.1568G>A (p.Arg523His)
|
|
|
NM_000203.5(IDUA):c.1568G>T (p.Arg523Leu)
|
|
|
NM_000203.5(IDUA):c.1588C>A (p.Leu530Met)
|
rs749053703
|
|
NM_000203.5(IDUA):c.1589T>G (p.Leu530Arg)
|
|
|
NM_000203.5(IDUA):c.1592G>A (p.Arg531Gln)
|
|
|
NM_000203.5(IDUA):c.1597C>T (p.Pro533Ser)
|
|
|
NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe)
|
rs1577543849
|
|
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.1627C>A (p.Arg543Ser)
|
|
|
NM_000203.5(IDUA):c.1628G>A (p.Arg543His)
|
|
|
NM_000203.5(IDUA):c.1643C>T (p.Pro548Leu)
|
|
|
NM_000203.5(IDUA):c.1650+12T>C
|
rs1715248390
|
|
NM_000203.5(IDUA):c.1650G>A (p.Gln550=)
|
|
|
NM_000203.5(IDUA):c.1651-10C>T
|
rs548878643
|
|
NM_000203.5(IDUA):c.1651-7C>A
|
rs934115207
|
|
NM_000203.5(IDUA):c.1652T>A (p.Val551Asp)
|
|
|
NM_000203.5(IDUA):c.1658G>T (p.Arg553Leu)
|
|
|
NM_000203.5(IDUA):c.1660C>G (p.Leu554Val)
|
rs2153022999
|
|
NM_000203.5(IDUA):c.1664G>A (p.Arg555His)
|
|
|
NM_000203.5(IDUA):c.1666G>A (p.Ala556Thr)
|
|
|
NM_000203.5(IDUA):c.1666G>C (p.Ala556Pro)
|
rs771540729
|
|
NM_000203.5(IDUA):c.1670T>A (p.Leu557Gln)
|
rs2153023010
|
|
NM_000203.5(IDUA):c.1673C>T (p.Pro558Leu)
|
|
|
NM_000203.5(IDUA):c.1676T>G (p.Leu559Arg)
|
|
|
NM_000203.5(IDUA):c.1679C>A (p.Thr560Asn)
|
rs773249605
|
|
NM_000203.5(IDUA):c.1679C>T (p.Thr560Ile)
|
|
|
NM_000203.5(IDUA):c.1691T>C (p.Leu564Pro)
|
|
|
NM_000203.5(IDUA):c.1694T>C (p.Val565Ala)
|
|
|
NM_000203.5(IDUA):c.1708G>C (p.Asp570His)
|
rs1553917627
|
|
NM_000203.5(IDUA):c.1709A>G (p.Asp570Gly)
|
|
|
NM_000203.5(IDUA):c.1720G>C (p.Gly574Arg)
|
|
|
NM_000203.5(IDUA):c.1724C>T (p.Ser575Phe)
|
|
|
NM_000203.5(IDUA):c.1727+6T>A
|
|
|
NM_000203.5(IDUA):c.1727+9G>T
|
rs771420258
|
|
NM_000203.5(IDUA):c.1728-3C>G
|
|
|
NM_000203.5(IDUA):c.1745A>C (p.Glu582Ala)
|
|
|
NM_000203.5(IDUA):c.1765G>T (p.Gly589Cys)
|
rs144941693
|
|
NM_000203.5(IDUA):c.1784T>G (p.Val595Gly)
|
|
|
NM_000203.5(IDUA):c.1794G>C (p.Lys598Asn)
|
|
|
NM_000203.5(IDUA):c.1799C>G (p.Ser600Trp)
|
|
|
NM_000203.5(IDUA):c.1809C>A (p.Asn603Lys)
|
|
|
NM_000203.5(IDUA):c.1816G>T (p.Val606Leu)
|
|
|
NM_000203.5(IDUA):c.1828+4C>T
|
|
|
NM_000203.5(IDUA):c.1829-3C>T
|
|
|
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly)
|
rs121965031
|
|
NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln)
|
rs372137794
|
|
NM_000203.5(IDUA):c.1862G>A (p.Arg621Gln)
|
|
|
NM_000203.5(IDUA):c.1862G>C (p.Arg621Pro)
|
rs762399936
|
|
NM_000203.5(IDUA):c.1870G>T (p.Asp624Tyr)
|
|
|
NM_000203.5(IDUA):c.1873T>C (p.Tyr625His)
|
rs1715312209
|
|
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.1888G>A (p.Gly630Ser)
|
rs1553917753
|
|
NM_000203.5(IDUA):c.1894T>A (p.Phe632Ile)
|
rs2153023304
|
|
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs)
|
rs1715314710
|
|
NM_000203.5(IDUA):c.1909C>G (p.Pro637Ala)
|
|
|
NM_000203.5(IDUA):c.1910C>G (p.Pro637Arg)
|
|
|
NM_000203.5(IDUA):c.1911_1931del (p.Tyr638_Pro644del)
|
|
|
NM_000203.5(IDUA):c.1914C>G (p.Tyr638Ter)
|
rs768467230
|
|
NM_000203.5(IDUA):c.1918G>T (p.Glu640Ter)
|
rs1553917764
|
|
NM_000203.5(IDUA):c.1921G>T (p.Val641Phe)
|
|
|
NM_000203.5(IDUA):c.1924C>T (p.Pro642Ser)
|
|
|
NM_000203.5(IDUA):c.1928T>C (p.Val643Ala)
|
|
|
NM_000203.5(IDUA):c.1938_1947dup (p.Pro650fs)
|
|
|
NM_000203.5(IDUA):c.1938del (p.Pro648fs)
|
|
|
NM_000203.5(IDUA):c.1942C>T (p.Pro648Ser)
|
|
|
NM_000203.5(IDUA):c.1946C>T (p.Ser649Phe)
|
|
|
NM_000203.5(IDUA):c.1952G>A (p.Gly651Asp)
|
rs750609855
|
|
NM_000203.5(IDUA):c.1955A>G (p.Asn652Ser)
|
|
|
NM_000203.5(IDUA):c.300-3C>G
|
rs1226056948
|
|
NM_000203.5(IDUA):c.301G>A (p.Gly101Arg)
|
rs2153021609
|
|
NM_000203.5(IDUA):c.313C>T (p.Arg105Trp)
|
|
|
NM_000203.5(IDUA):c.314G>C (p.Arg105Pro)
|
|
|
NM_000203.5(IDUA):c.316G>A (p.Gly106Ser)
|
|
|
NM_000203.5(IDUA):c.316G>C (p.Gly106Arg)
|
|
|
NM_000203.5(IDUA):c.322A>T (p.Ser108Cys)
|
rs1715015091
|
|
NM_000203.5(IDUA):c.341T>G (p.Leu114Arg)
|
|
|
NM_000203.5(IDUA):c.347G>A (p.Gly116Glu)
|
|
|
NM_000203.5(IDUA):c.348G>A (p.Gly116=)
|
rs1715016939
|
|
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.399G>C (p.Met133Ile)
|
rs558683362
|
|
NM_000203.5(IDUA):c.410C>G (p.Ser137Trp)
|
rs769949390
|
|
NM_000203.5(IDUA):c.410C>T (p.Ser137Leu)
|
rs769949390
|
|
NM_000203.5(IDUA):c.413G>A (p.Gly138Asp)
|
rs866656054
|
|
NM_000203.5(IDUA):c.416A>C (p.His139Pro)
|
rs2153021706
|
|
NM_000203.5(IDUA):c.438G>C (p.Lys146Asn)
|
|
|
NM_000203.5(IDUA):c.452A>G (p.Glu151Gly)
|
|
|
NM_000203.5(IDUA):c.457A>G (p.Lys153Glu)
|
rs1715035049
|
|
NM_000203.5(IDUA):c.462C>G (p.Asp154Glu)
|
rs2153021723
|
|
NM_000203.5(IDUA):c.463T>G (p.Leu155Val)
|
|
|
NM_000203.5(IDUA):c.471C>T (p.Ser157=)
|
|
|
NM_000203.5(IDUA):c.485G>A (p.Arg162Lys)
|
rs1553916949
|
|
NM_000203.5(IDUA):c.487T>C (p.Tyr163His)
|
|
|
NM_000203.5(IDUA):c.490A>G (p.Ile164Val)
|
|
|
NM_000203.5(IDUA):c.493+4G>A
|
|
|
NM_000203.5(IDUA):c.493+6C>G
|
rs376738689
|
|
NM_000203.5(IDUA):c.493+6C>T
|
rs376738689
|
|
NM_000203.5(IDUA):c.493G>A (p.Gly165Ser)
|
|
|
NM_000203.5(IDUA):c.493G>C (p.Gly165Arg)
|
rs748326989
|
|
NM_000203.5(IDUA):c.494-43C>T
|
|
|
NM_000203.5(IDUA):c.502G>C (p.Gly168Arg)
|
rs753308650
|
|
NM_000203.5(IDUA):c.509C>T (p.Ala170Val)
|
|
|
NM_000203.5(IDUA):c.512A>G (p.His171Arg)
|
|
|
NM_000203.5(IDUA):c.513T>A (p.His171Gln)
|
|
|
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.548C>G (p.Pro183Arg)
|
rs1238128027
|
|
NM_000203.5(IDUA):c.550G>T (p.Asp184Tyr)
|
|
|
NM_000203.5(IDUA):c.551A>G (p.Asp184Gly)
|
|
|
NM_000203.5(IDUA):c.553C>G (p.His185Asp)
|
|
|
NM_000203.5(IDUA):c.556C>T (p.His186Tyr)
|
|
|
NM_000203.5(IDUA):c.569A>G (p.Asn190Ser)
|
|
|
NM_000203.5(IDUA):c.575C>G (p.Ser192Cys)
|
rs1189807498
|
|
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.590G>A (p.Gly197Asp)
|
rs770087890
|
|
NM_000203.5(IDUA):c.601TAC[3] (p.Tyr202dup)
|
rs1553917091
|
|
NM_000203.5(IDUA):c.613T>A (p.Cys205Ser)
|
|
|
NM_000203.5(IDUA):c.618G>A (p.Ser206=)
|
rs377312287
|
|
NM_000203.5(IDUA):c.621G>T (p.Glu207Asp)
|
|
|
NM_000203.5(IDUA):c.628C>G (p.Arg210Gly)
|
|
|
NM_000203.5(IDUA):c.629G>A (p.Arg210His)
|
|
|
NM_000203.5(IDUA):c.629_630delinsAG (p.Arg210Gln)
|
|
|
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.641C>G (p.Pro214Arg)
|
|
|
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.669C>G (p.Asp223Glu)
|
|
|
NM_000203.5(IDUA):c.670T>C (p.Ser224Pro)
|
|
|
NM_000203.5(IDUA):c.707G>A (p.Gly236Asp)
|
|
|
NM_000203.5(IDUA):c.709C>G (p.Leu237Val)
|
|
|
NM_000203.5(IDUA):c.713T>G (p.Leu238Arg)
|
|
|
NM_000203.5(IDUA):c.715C>A (p.Arg239Ser)
|
rs1715096263
|
|
NM_000203.5(IDUA):c.718C>A (p.His240Asn)
|
rs1374359136
|
|
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.727G>A (p.Asp243Asn)
|
rs1460797649
|
|
NM_000203.5(IDUA):c.734C>T (p.Thr245Ile)
|
rs1226615259
|
|
NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del)
|
rs764800004
|
|
NM_000203.5(IDUA):c.741C>A (p.Phe247Leu)
|
|
|
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.793-10C>G
|
rs886059754
|
|
NM_000203.5(IDUA):c.793-9C>A
|
|
|
NM_000203.5(IDUA):c.793-9C>T
|
rs375798875
|
|
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.826_828del (p.Glu276del)
|
|
|
NM_000203.5(IDUA):c.828G>C (p.Glu276Asp)
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NM_000203.5(IDUA):c.837C>T (p.Val279=)
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rs758749484
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NM_000203.5(IDUA):c.845A>T (p.Gln282Leu)
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rs886042832
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NM_000203.5(IDUA):c.859T>C (p.Phe287Leu)
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NM_000203.5(IDUA):c.860T>G (p.Phe287Cys)
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rs748239393
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NM_000203.5(IDUA):c.870C>A (p.Phe290Leu)
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rs1715117568
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NM_000203.5(IDUA):c.880C>A (p.Pro294Thr)
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NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup)
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rs1553917216
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NM_000203.5(IDUA):c.894C>A (p.Asp298Glu)
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NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)
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rs121965030
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NM_000203.5(IDUA):c.900G>A (p.Ala300=)
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rs1715120552
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NM_000203.5(IDUA):c.904C>A (p.Pro302Thr)
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rs1715120993
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NM_000203.5(IDUA):c.904C>T (p.Pro302Ser)
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NM_000203.5(IDUA):c.916T>G (p.Trp306Gly)
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NM_000203.5(IDUA):c.917G>T (p.Trp306Leu)
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NM_000203.5(IDUA):c.920C>T (p.Ser307Phe)
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NM_000203.5(IDUA):c.925C>A (p.Pro309Thr)
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NM_000203.5(IDUA):c.932C>G (p.Pro311Arg)
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NM_000203.5(IDUA):c.940G>A (p.Ala314Thr)
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rs1715123919
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NM_000203.5(IDUA):c.950C>T (p.Thr317Ile)
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NM_000203.5(IDUA):c.952T>C (p.Tyr318His)
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NM_000203.5(IDUA):c.955G>A (p.Ala319Thr)
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NM_000203.5(IDUA):c.956C>T (p.Ala319Val)
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rs781534097
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NM_000203.5(IDUA):c.958G>A (p.Ala320Thr)
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NM_000203.5(IDUA):c.961A>G (p.Met321Val)
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NM_000203.5(IDUA):c.962T>C (p.Met321Thr)
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NM_000203.5(IDUA):c.964G>T (p.Val322Leu)
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rs1433608644
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NM_000203.5(IDUA):c.973-13T>G
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NM_000203.5(IDUA):c.975_980del (p.Ile326_Ala327del)
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rs1553917253
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NM_000203.5(IDUA):c.977T>C (p.Ile326Thr)
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rs1461992821
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NM_000203.5(IDUA):c.984G>C (p.Gln328His)
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NM_000203.5(IDUA):c.993C>G (p.Asn331Lys)
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NM_000203.5(IDUA):c.995T>C (p.Leu332Pro)
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rs1222686614
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