NM_000203.5(IDUA):c.300-246C>T
|
rs3755957
|
0.25843
|
NM_000203.5(IDUA):c.352C>T (p.Leu118=)
|
rs3755954
|
0.22368
|
NM_000203.5(IDUA):c.1525-38T>C
|
rs1131853
|
0.21794
|
NM_000203.5(IDUA):c.1727+72T>G
|
rs2305488
|
0.17150
|
NM_000203.5(IDUA):c.1402+36T>C
|
rs115134980
|
0.17107
|
NM_000203.5(IDUA):c.972+48A>G
|
rs6811373
|
0.17097
|
NM_000203.5(IDUA):c.543T>C (p.Asn181=)
|
rs6815946
|
0.16952
|
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile)
|
rs73066479
|
0.16867
|
NM_000203.5(IDUA):c.1467C>T (p.Arg489=)
|
rs115929690
|
0.16835
|
NM_000203.5(IDUA):c.942G>C (p.Ala314=)
|
rs6830825
|
0.16834
|
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr)
|
rs6831280
|
0.16782
|
NM_000203.5(IDUA):c.1164G>C (p.Thr388=)
|
rs6836258
|
0.16540
|
NM_000203.5(IDUA):c.493+205G>A
|
rs3733342
|
0.16368
|
NM_000203.5(IDUA):c.1524+41G>T
|
rs188458034
|
0.14666
|
NM_000203.5(IDUA):c.891C>T (p.Asn297=)
|
rs114806891
|
0.04874
|
NM_000203.5(IDUA):c.1727+75G>T
|
rs2305489
|
0.04671
|
NM_000203.5(IDUA):c.300-44C>T
|
rs3755956
|
0.03133
|
NM_000203.5(IDUA):c.493+123T>G
|
rs116454030
|
0.02285
|
NC_000004.12:g.1004654G>A
|
rs114307088
|
0.02260
|
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
|
rs11934801
|
0.01974
|
NM_000203.5(IDUA):c.1174C>T (p.Leu392=)
|
rs201682298
|
0.01139
|
NM_000203.5(IDUA):c.1582C>G (p.Pro528Ala)
|
rs199722340
|
0.00862
|
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe)
|
rs74385837
|
0.00475
|
NM_000203.5(IDUA):c.493+132G>C
|
rs59716967
|
0.00405
|
NM_000203.5(IDUA):c.300-242C>T
|
rs56926094
|
0.00404
|
NM_000203.5(IDUA):c.1190-17_1190-16insA
|
rs201559436
|
0.00401
|
NM_000203.5(IDUA):c.1728-87C>A
|
rs73066482
|
0.00387
|
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)
|
rs532731688
|
0.00315
|
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg)
|
rs148946496
|
0.00289
|
NM_000203.5(IDUA):c.1524+24G>A
|
rs538040010
|
0.00167
|
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn)
|
rs183347428
|
0.00166
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
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.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.630C>T (p.Arg210=)
|
rs376012666
|
0.00017
|
NM_000203.5(IDUA):c.1403-14G>T
|
rs368368416
|
0.00016
|
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.979G>C (p.Ala327Pro)
|
rs199801029
|
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.1046A>G (p.Asp349Gly)
|
rs371397270
|
0.00004
|
NM_000203.5(IDUA):c.1403-1G>T
|
rs4690223
|
0.00004
|
NM_000203.5(IDUA):c.1501T>C (p.Phe501Leu)
|
rs776590488
|
0.00004
|
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)
|
rs121965031
|
0.00004
|
NM_000203.5(IDUA):c.536C>T (p.Thr179Met)
|
rs776098539
|
0.00004
|
NM_000203.5(IDUA):c.581C>G (p.Thr194Ser)
|
rs575667885
|
0.00004
|
NM_000203.5(IDUA):c.793-1G>A
|
rs762779421
|
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.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
NM_000203.5(IDUA):c.1614del (p.His539fs)
|
rs727503967
|
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.793G>C (p.Gly265Arg)
|
rs369090960
|
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.1743C>G (p.Tyr581Ter)
|
rs776787370
|
0.00002
|
NM_000203.5(IDUA):c.1828+5G>A
|
rs565649151
|
0.00002
|
NM_000203.5(IDUA):c.1829-1G>A
|
rs745915863
|
0.00002
|
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter)
|
rs756572099
|
0.00002
|
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)
|
rs148789453
|
0.00002
|
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)
|
rs368454909
|
0.00001
|
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.1139A>G (p.Gln380Arg)
|
rs762903007
|
0.00001
|
NM_000203.5(IDUA):c.1148G>A (p.Arg383His)
|
rs754949360
|
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.1163C>G (p.Thr388Arg)
|
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.1402+1G>T
|
rs398123254
|
0.00001
|
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs)
|
rs761793564
|
0.00001
|
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)
|
rs772416503
|
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.1728-1G>C
|
rs1249951282
|
0.00001
|
NM_000203.5(IDUA):c.1744G>A (p.Glu582Lys)
|
rs762037549
|
0.00001
|
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro)
|
rs200448421
|
0.00001
|
NM_000203.5(IDUA):c.386-2A>G
|
rs777295041
|
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.623G>A (p.Gly208Asp)
|
rs1430681871
|
0.00001
|
NM_000203.5(IDUA):c.649C>T (p.Arg217Trp)
|
rs1178237301
|
0.00001
|
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)
|
rs869025584
|
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.788G>A (p.Arg263Lys)
|
rs990612149
|
0.00001
|
NM_000203.5(IDUA):c.793-4G>T
|
rs773734796
|
0.00001
|
NM_000203.5(IDUA):c.1023_1026del (p.Pro342fs)
|
|
|
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter)
|
rs764196171
|
|
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.1044C>G (p.Asn348Lys)
|
rs746766617
|
|
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del)
|
rs1230096882
|
|
NM_000203.5(IDUA):c.1048A>G (p.Asn350Asp)
|
|
|
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.1084C>T (p.Gln362Ter)
|
rs1715144653
|
|
NM_000203.5(IDUA):c.1086_1096del (p.Gln362fs)
|
|
|
NM_000203.5(IDUA):c.1088G>T (p.Arg363Leu)
|
|
|
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)
|
rs121965032
|
|
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.1189+5G>A
|
rs1553917318
|
|
NM_000203.5(IDUA):c.1190-10del
|
rs150523349
|
|
NM_000203.5(IDUA):c.1190-10dup
|
rs150523349
|
|
NM_000203.5(IDUA):c.1190-1G>A
|
rs1715175636
|
|
NM_000203.5(IDUA):c.1214T>G (p.Val405Gly)
|
|
|
NM_000203.5(IDUA):c.1220_1236del (p.Gln407fs)
|
|
|
NM_000203.5(IDUA):c.1230C>G (p.Thr410=)
|
rs115790973
|
|
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.1269C>A (p.Ser423Arg)
|
rs931627770
|
|
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.1343_1365del (p.Ala448fs)
|
rs2153022646
|
|
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.1402+1G>C
|
rs398123254
|
|
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.1469T>C (p.Leu490Pro)
|
rs121965027
|
|
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro)
|
rs121965026
|
|
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)
|
rs375819348
|
|
NM_000203.5(IDUA):c.1479C>A (p.Pro493=)
|
rs370394527
|
|
NM_000203.5(IDUA):c.1479C>G (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.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.1509C>T (p.Arg503=)
|
|
|
NM_000203.5(IDUA):c.1509_1511del (p.Met504del)
|
|
|
NM_000203.5(IDUA):c.1524+25GGGCC[2]
|
rs572565537
|
|
NM_000203.5(IDUA):c.1524+53G>T
|
rs113289555
|
|
NM_000203.5(IDUA):c.1525-11_1536del
|
rs1715233169
|
|
NM_000203.5(IDUA):c.1525-3dup
|
rs762593235
|
|
NM_000203.5(IDUA):c.1529C>G (p.Pro510Arg)
|
rs794727017
|
|
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.1598C>T (p.Pro533Leu)
|
rs121965021
|
|
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.1623T>A (p.Cys541Ter)
|
rs2153022938
|
|
NM_000203.5(IDUA):c.1633del (p.Glu545fs)
|
rs2153022944
|
|
NM_000203.5(IDUA):c.1643C>T (p.Pro548Leu)
|
|
|
NM_000203.5(IDUA):c.1650+1G>T
|
rs1434521185
|
|
NM_000203.5(IDUA):c.1650+5G>A
|
rs398123256
|
|
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.1728-2A>G
|
rs1553917699
|
|
NM_000203.5(IDUA):c.1745A>C (p.Glu582Ala)
|
|
|
NM_000203.5(IDUA):c.1765G>T (p.Gly589Cys)
|
rs144941693
|
|
NM_000203.5(IDUA):c.1766del (p.Gly589fs)
|
rs1715293163
|
|
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer)
|
rs398123258
|
|
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.1861C>T (p.Arg621Ter)
|
rs121965025
|
|
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.1898C>G (p.Ser633Trp)
|
rs886043347
|
|
NM_000203.5(IDUA):c.1911_1931del (p.Tyr638_Pro644del)
|
|
|
NM_000203.5(IDUA):c.1914C>A (p.Tyr638Ter)
|
rs768467230
|
|
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln)
|
rs3755955
|
|
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.385+1G>C
|
rs780615798
|
|
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.494-149C>G
|
rs3733341
|
|
NM_000203.5(IDUA):c.494-198_494-179del
|
rs3832289
|
|
NM_000203.5(IDUA):c.494-1G>C
|
rs794727701
|
|
NM_000203.5(IDUA):c.501C>G (p.Tyr167Ter)
|
rs200726100
|
|
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>A (p.Glu178Lys)
|
|
|
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.540G>A (p.Trp180Ter)
|
rs2153021904
|
|
NM_000203.5(IDUA):c.542A>G (p.Asn181Ser)
|
|
|
NM_000203.5(IDUA):c.542dup (p.Asn181fs)
|
rs1553917044
|
|
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.554A>C (p.His185Pro)
|
rs1064796754
|
|
NM_000203.5(IDUA):c.570del (p.Asn190fs)
|
rs1330366594
|
|
NM_000203.5(IDUA):c.579G>A (p.Met193Ile)
|
rs2153021918
|
|
NM_000203.5(IDUA):c.590-45G>A
|
rs6829789
|
|
NM_000203.5(IDUA):c.590-45G>C
|
rs6829789
|
|
NM_000203.5(IDUA):c.590-7G>A
|
rs762411583
|
|
NM_000203.5(IDUA):c.590-8C>G
|
rs6848974
|
|
NM_000203.5(IDUA):c.590-8C>T
|
rs6848974
|
|
NM_000203.5(IDUA):c.603C>G (p.Tyr201Ter)
|
rs766574778
|
|
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter)
|
rs1715086654
|
|
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.784del (p.His262fs)
|
rs757928590
|
|
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.876del (p.Asp292fs)
|
rs1553917209
|
|
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.965del (p.Val322fs)
|
rs2153022263
|
|
NM_000203.5(IDUA):c.972+1G>A
|
rs794727840
|
|
NM_000203.5(IDUA):c.973-45G>C
|
rs6831021
|
|
NM_000203.5(IDUA):c.993C>G (p.Asn331Lys)
|
|
|
NM_000203.5(IDUA):c.995T>C (p.Leu332Pro)
|
rs1222686614
|
|