NM_000203.5(IDUA):c.99T>G (p.His33Gln)
|
rs10794537
|
0.85085
|
NM_000203.5(IDUA):c.60G>A (p.Ala20=)
|
rs10902762
|
0.39819
|
NM_000203.5(IDUA):c.24C>A (p.Ala8=)
|
rs11248061
|
0.39731
|
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.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.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.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.296C>T (p.Thr99Ile)
|
rs147490060
|
0.00596
|
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe)
|
rs74385837
|
0.00475
|
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)
|
rs532731688
|
0.00315
|
NM_000203.5(IDUA):c.1293C>T (p.Ala431=)
|
rs559676638
|
0.00298
|
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg)
|
rs148946496
|
0.00289
|
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn)
|
rs183347428
|
0.00166
|
NM_000203.5(IDUA):c.493+10C>T
|
rs200000194
|
0.00156
|
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.234C>T (p.Gly78=)
|
rs138932617
|
0.00078
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)
|
rs180984980
|
0.00062
|
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.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.1403-14G>T
|
rs368368416
|
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.76G>A (p.Ala26Thr)
|
rs746809894
|
0.00011
|
NM_000203.5(IDUA):c.932C>T (p.Pro311Leu)
|
rs377684568
|
0.00010
|
NM_000203.5(IDUA):c.405C>T (p.Ser135=)
|
rs201326626
|
0.00009
|
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)
|
rs201268637
|
0.00009
|
NM_000203.5(IDUA):c.164C>T (p.Pro55Leu)
|
rs199554923
|
0.00008
|
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)
|
rs199801029
|
0.00008
|
NM_000203.5(IDUA):c.1910C>T (p.Pro637Leu)
|
rs371369206
|
0.00007
|
NM_000203.5(IDUA):c.882C>T (p.Pro294=)
|
rs762825338
|
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.1773G>A (p.Ala591=)
|
rs148894462
|
0.00006
|
NM_000203.5(IDUA):c.1800G>A (p.Ser600=)
|
rs763047621
|
0.00006
|
NM_000203.5(IDUA):c.765G>C (p.Arg255=)
|
rs965929339
|
0.00006
|
NM_000203.5(IDUA):c.981G>T (p.Ala327=)
|
rs372379342
|
0.00006
|
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.1855C>T (p.Arg619Ter)
|
rs121965031
|
0.00004
|
NM_000203.5(IDUA):c.30G>A (p.Leu10=)
|
rs549738466
|
0.00004
|
NM_000203.5(IDUA):c.64C>G (p.Pro22Ala)
|
rs1001972534
|
0.00004
|
NM_000203.5(IDUA):c.793-1G>A
|
rs762779421
|
0.00004
|
NM_000203.5(IDUA):c.957G>C (p.Ala319=)
|
rs748350723
|
0.00004
|
NM_000203.5(IDUA):c.1425C>T (p.Tyr475=)
|
rs370257928
|
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.1776C>T (p.Tyr592=)
|
rs372033248
|
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.1224C>T (p.Ala408=)
|
rs774488302
|
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.1829-1G>A
|
rs745915863
|
0.00002
|
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter)
|
rs756572099
|
0.00002
|
NM_000203.5(IDUA):c.237C>T (p.Ala79=)
|
rs769676234
|
0.00002
|
NM_000203.5(IDUA):c.42G>C (p.Leu14=)
|
rs1021970063
|
0.00002
|
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)
|
rs148789453
|
0.00002
|
NM_000203.5(IDUA):c.793-5C>T
|
rs773072991
|
0.00002
|
NM_000203.5(IDUA):c.1051G>A (p.Ala351Thr)
|
rs772855552
|
0.00001
|
NM_000203.5(IDUA):c.1056C>T (p.Phe352=)
|
rs776110061
|
0.00001
|
NM_000203.5(IDUA):c.1127C>T (p.Pro376Leu)
|
rs1038727823
|
0.00001
|
NM_000203.5(IDUA):c.1148G>A (p.Arg383His)
|
rs754949360
|
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.1186C>T (p.Leu396=)
|
rs1011474273
|
0.00001
|
NM_000203.5(IDUA):c.1264G>C (p.Ala422Pro)
|
rs1392555572
|
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.1487C>G (p.Pro496Arg)
|
rs772416503
|
0.00001
|
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)
|
rs794726877
|
0.00001
|
NM_000203.5(IDUA):c.1536C>T (p.Ala512=)
|
rs1392263774
|
0.00001
|
NM_000203.5(IDUA):c.162C>A (p.Pro54=)
|
rs1378930636
|
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.1802C>T (p.Thr601Ile)
|
rs200089576
|
0.00001
|
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)
|
rs886043347
|
0.00001
|
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)
|
rs758452450
|
0.00001
|
NM_000203.5(IDUA):c.233G>A (p.Gly78Asp)
|
rs751792135
|
0.00001
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)
|
rs754966840
|
0.00001
|
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)
|
rs121965029
|
0.00001
|
NM_000203.5(IDUA):c.357C>T (p.Asp119=)
|
rs1262464994
|
0.00001
|
NM_000203.5(IDUA):c.386-2A>G
|
rs777295041
|
0.00001
|
NM_000203.5(IDUA):c.534G>A (p.Glu178=)
|
rs762533612
|
0.00001
|
NM_000203.5(IDUA):c.557A>G (p.His186Arg)
|
rs758439259
|
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.65C>T (p.Pro22Leu)
|
rs745879759
|
0.00001
|
NM_000203.5(IDUA):c.693C>T (p.Ser231=)
|
rs529773032
|
0.00001
|
NM_000203.5(IDUA):c.719A>G (p.His240Arg)
|
rs1297784711
|
0.00001
|
NM_000203.5(IDUA):c.73C>T (p.Pro25Ser)
|
rs775731864
|
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.850C>T (p.Arg284Trp)
|
rs1426919426
|
0.00001
|
NM_000203.5(IDUA):c.972+8G>A
|
rs774327124
|
0.00001
|
NM_022042.4(SLC26A1):c.*874C>T
|
rs775172497
|
0.00001
|
NM_000203.5(IDUA):c.-2C>T
|
rs1472246458
|
|
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter)
|
rs764196171
|
|
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)
|
rs121965033
|
|
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr)
|
rs368454909
|
|
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)
|
rs121965032
|
|
NM_000203.5(IDUA):c.1105T>C (p.Phe369Leu)
|
rs1715147247
|
|
NM_000203.5(IDUA):c.1149C>T (p.Arg383=)
|
rs767632084
|
|
NM_000203.5(IDUA):c.1190-10C>A
|
rs1443642527
|
|
NM_000203.5(IDUA):c.1190-10dup
|
rs150523349
|
|
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter)
|
rs1340421020
|
|
NM_000203.5(IDUA):c.1230C>G (p.Thr410=)
|
rs115790973
|
|
NM_000203.5(IDUA):c.1303C>G (p.Arg435Gly)
|
rs1188900288
|
|
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del)
|
rs1715188461
|
|
NM_000203.5(IDUA):c.1349C>G (p.Pro450Arg)
|
rs895626490
|
|
NM_000203.5(IDUA):c.1367T>G (p.Val456Gly)
|
rs1715192601
|
|
NM_000203.5(IDUA):c.1449C>T (p.Pro483=)
|
rs761637332
|
|
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu)
|
rs1715210316
|
|
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)
|
rs121965027
|
|
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.1491G>A (p.Thr497=)
|
rs374102243
|
|
NM_000203.5(IDUA):c.1525-3dup
|
rs762593235
|
|
NM_000203.5(IDUA):c.1588C>A (p.Leu530Met)
|
rs749053703
|
|
NM_000203.5(IDUA):c.164dup (p.Leu56fs)
|
rs727503966
|
|
NM_000203.5(IDUA):c.1651-10C>T
|
rs548878643
|
|
NM_000203.5(IDUA):c.1679C>A (p.Thr560Asn)
|
rs773249605
|
|
NM_000203.5(IDUA):c.178C>T (p.Gln60Ter)
|
rs1577508801
|
|
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer)
|
rs398123258
|
|
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.1898C>A (p.Ser633Ter)
|
rs886043347
|
|
NM_000203.5(IDUA):c.1A>C (p.Met1Leu)
|
rs1553914737
|
|
NM_000203.5(IDUA):c.247C>T (p.Arg83Cys)
|
rs771733089
|
|
NM_000203.5(IDUA):c.2T>C (p.Met1Thr)
|
rs753767675
|
|
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln)
|
rs3755955
|
|
NM_000203.5(IDUA):c.322A>T (p.Ser108Cys)
|
rs1715015091
|
|
NM_000203.5(IDUA):c.385+1G>C
|
rs780615798
|
|
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)
|
rs774605197
|
|
NM_000203.5(IDUA):c.413G>A (p.Gly138Asp)
|
rs866656054
|
|
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)
|
rs398123260
|
|
NM_000203.5(IDUA):c.493+6C>G
|
rs376738689
|
|
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)
|
rs776098539
|
|
NM_000203.5(IDUA):c.55G>C (p.Ala19Pro)
|
rs1713786448
|
|
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.606C>A (p.Tyr202Ter)
|
rs1033313360
|
|
NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter)
|
rs1033313360
|
|
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)
|
rs786200915
|
|
NM_000203.5(IDUA):c.618G>A (p.Ser206=)
|
rs377312287
|
|
NM_000203.5(IDUA):c.675C>T (p.Phe225=)
|
rs767436466
|
|
NM_000203.5(IDUA):c.784del (p.His262fs)
|
rs757928590
|
|
NM_000203.5(IDUA):c.793-9C>T
|
rs375798875
|
|
NM_000203.5(IDUA):c.860T>G (p.Phe287Cys)
|
rs748239393
|
|
NM_000203.5(IDUA):c.876del (p.Asp292fs)
|
rs1553917209
|
|
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup)
|
rs779762183
|
|
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter)
|
rs1715120049
|
|
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)
|
rs121965030
|
|
NM_000203.5(IDUA):c.936G>A (p.Trp312Ter)
|
rs1715123409
|
|
NM_000203.5(IDUA):c.973-45G>C
|
rs6831021
|
|
NM_000203.5(IDUA):c.995T>C (p.Leu332Pro)
|
rs1222686614
|
|