NM_000203.5(IDUA):c.1727+75G>T
|
rs2305489
|
0.04671
|
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.1293C>T (p.Ala431=)
|
rs559676638
|
0.00298
|
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg)
|
rs148946496
|
0.00289
|
NM_000203.5(IDUA):c.493+10C>T
|
rs200000194
|
0.00156
|
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.11T>C (p.Leu4Pro)
|
rs180984980
|
0.00062
|
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.666C>T (p.Gly222=)
|
rs200411359
|
0.00029
|
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.386-8T>C
|
rs199652725
|
0.00017
|
NM_000203.5(IDUA):c.159-8G>A
|
rs886180069
|
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.300-20C>T
|
rs374050415
|
0.00014
|
NM_000203.5(IDUA):c.1781C>T (p.Pro594Leu)
|
rs143621769
|
0.00011
|
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)
|
rs746809894
|
0.00011
|
NM_000203.5(IDUA):c.1402+8G>A
|
rs1315308939
|
0.00010
|
NM_000203.5(IDUA):c.240C>G (p.Val80=)
|
rs373277285
|
0.00009
|
NM_000203.5(IDUA):c.405C>T (p.Ser135=)
|
rs201326626
|
0.00009
|
NM_000203.5(IDUA):c.882C>T (p.Pro294=)
|
rs762825338
|
0.00007
|
NM_000203.5(IDUA):c.1190-16C>T
|
rs1189052495
|
0.00006
|
NM_000203.5(IDUA):c.1403-6C>G
|
rs764919689
|
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.894C>T (p.Asp298=)
|
rs1031564096
|
0.00006
|
NM_000203.5(IDUA):c.981G>T (p.Ala327=)
|
rs372379342
|
0.00006
|
NM_000203.5(IDUA):c.1599G>A (p.Pro533=)
|
rs773947412
|
0.00005
|
NM_000203.5(IDUA):c.1728-9C>T
|
rs374775605
|
0.00005
|
NM_000203.5(IDUA):c.411G>A (p.Ser137=)
|
rs142816379
|
0.00005
|
NM_000203.5(IDUA):c.589+8_590-51dup
|
rs1560546691
|
0.00005
|
NM_000203.5(IDUA):c.903C>T (p.Asp301=)
|
rs759390416
|
0.00005
|
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly)
|
rs202191662
|
0.00004
|
NM_000203.5(IDUA):c.1053C>T (p.Ala351=)
|
rs762621113
|
0.00004
|
NM_000203.5(IDUA):c.1143G>A (p.Leu381=)
|
rs1214087298
|
0.00004
|
NM_000203.5(IDUA):c.1144T>C (p.Leu382=)
|
rs571482042
|
0.00004
|
NM_000203.5(IDUA):c.1190-10C>T
|
rs1443642527
|
0.00004
|
NM_000203.5(IDUA):c.1278C>T (p.Arg426=)
|
rs890691785
|
0.00004
|
NM_000203.5(IDUA):c.1482C>G (p.Val494=)
|
rs999890083
|
0.00004
|
NM_000203.5(IDUA):c.1632C>G (p.Pro544=)
|
rs760288223
|
0.00004
|
NM_000203.5(IDUA):c.1911G>A (p.Pro637=)
|
rs780005721
|
0.00004
|
NM_000203.5(IDUA):c.299+9C>T
|
rs559064100
|
0.00004
|
NM_000203.5(IDUA):c.30G>A (p.Leu10=)
|
rs549738466
|
0.00004
|
NM_000203.5(IDUA):c.385+19C>T
|
rs746426487
|
0.00004
|
NM_000203.5(IDUA):c.589+8C>T
|
rs371219112
|
0.00004
|
NM_000203.5(IDUA):c.711C>T (p.Leu237=)
|
rs528650871
|
0.00004
|
NM_000203.5(IDUA):c.957G>C (p.Ala319=)
|
rs748350723
|
0.00004
|
NM_000203.5(IDUA):c.10C>T (p.Leu4=)
|
rs1042371669
|
0.00003
|
NM_000203.5(IDUA):c.1189+7C>T
|
rs200516322
|
0.00003
|
NM_000203.5(IDUA):c.1288C>T (p.Pro430Ser)
|
rs1340171664
|
0.00003
|
NM_000203.5(IDUA):c.1365G>C (p.Ala455=)
|
rs1454281576
|
0.00003
|
NM_000203.5(IDUA):c.1395C>T (p.Pro465=)
|
rs1324471292
|
0.00003
|
NM_000203.5(IDUA):c.1425C>T (p.Tyr475=)
|
rs370257928
|
0.00003
|
NM_000203.5(IDUA):c.1525-6G>A
|
rs1560549741
|
0.00003
|
NM_000203.5(IDUA):c.1734G>C (p.Leu578=)
|
rs769042694
|
0.00003
|
NM_000203.5(IDUA):c.1776C>T (p.Tyr592=)
|
rs372033248
|
0.00003
|
NM_000203.5(IDUA):c.1828+16G>A
|
rs368043087
|
0.00003
|
NM_000203.5(IDUA):c.300-19G>A
|
rs774712987
|
0.00003
|
NM_000203.5(IDUA):c.493+8A>G
|
rs770967204
|
0.00003
|
NM_000203.5(IDUA):c.510G>A (p.Ala170=)
|
rs754039388
|
0.00003
|
NM_000203.5(IDUA):c.589+10G>A
|
rs772970567
|
0.00003
|
NM_000203.5(IDUA):c.708C>A (p.Gly236=)
|
rs765110155
|
0.00003
|
NM_000203.5(IDUA):c.792+12C>T
|
rs757783999
|
0.00003
|
NM_000203.5(IDUA):c.1035C>G (p.Leu345=)
|
rs374216702
|
0.00002
|
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val)
|
rs527336882
|
0.00002
|
NM_000203.5(IDUA):c.1107C>T (p.Phe369=)
|
rs769568236
|
0.00002
|
NM_000203.5(IDUA):c.1224C>T (p.Ala408=)
|
rs774488302
|
0.00002
|
NM_000203.5(IDUA):c.1251G>A (p.Thr417=)
|
rs1053501201
|
0.00002
|
NM_000203.5(IDUA):c.1570C>T (p.Leu524=)
|
rs1022872293
|
0.00002
|
NM_000203.5(IDUA):c.158+9T>A
|
rs1348088042
|
0.00002
|
NM_000203.5(IDUA):c.1581C>T (p.Arg527=)
|
rs748327468
|
0.00002
|
NM_000203.5(IDUA):c.1587G>T (p.Ala529=)
|
rs773184536
|
0.00002
|
NM_000203.5(IDUA):c.1764C>T (p.Asp588=)
|
rs751577725
|
0.00002
|
NM_000203.5(IDUA):c.1767T>A (p.Gly589=)
|
rs752327610
|
0.00002
|
NM_000203.5(IDUA):c.1872C>T (p.Asp624=)
|
rs965431982
|
0.00002
|
NM_000203.5(IDUA):c.1941C>G (p.Pro647=)
|
rs764473896
|
0.00002
|
NM_000203.5(IDUA):c.216C>G (p.Leu72=)
|
rs1174720330
|
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.494-9C>T
|
rs1488371363
|
0.00002
|
NM_000203.5(IDUA):c.552C>T (p.Asp184=)
|
rs765431965
|
0.00002
|
NM_000203.5(IDUA):c.589+9C>T
|
rs769683019
|
0.00002
|
NM_000203.5(IDUA):c.793-5C>T
|
rs773072991
|
0.00002
|
NM_000203.5(IDUA):c.924G>C (p.Leu308=)
|
rs760198221
|
0.00002
|
NM_000203.5(IDUA):c.939G>A (p.Arg313=)
|
rs540430727
|
0.00002
|
NM_000203.5(IDUA):c.1032G>A (p.Ala344=)
|
rs959994477
|
0.00001
|
NM_000203.5(IDUA):c.1050T>C (p.Asn350=)
|
rs769373163
|
0.00001
|
NM_000203.5(IDUA):c.1056C>T (p.Phe352=)
|
rs776110061
|
0.00001
|
NM_000203.5(IDUA):c.1074C>T (p.His358=)
|
rs1171720920
|
0.00001
|
NM_000203.5(IDUA):c.1128G>A (p.Pro376=)
|
rs768841506
|
0.00001
|
NM_000203.5(IDUA):c.1152G>A (p.Lys384=)
|
rs1244370377
|
0.00001
|
NM_000203.5(IDUA):c.1185G>A (p.Leu395=)
|
rs1355543480
|
0.00001
|
NM_000203.5(IDUA):c.1186C>T (p.Leu396=)
|
rs1011474273
|
0.00001
|
NM_000203.5(IDUA):c.1190-7C>T
|
rs1715175188
|
0.00001
|
NM_000203.5(IDUA):c.1209C>G (p.Ala403=)
|
rs990733414
|
0.00001
|
NM_000203.5(IDUA):c.1260C>T (p.Val420=)
|
rs1715182456
|
0.00001
|
NM_000203.5(IDUA):c.1311G>C (p.Ala437=)
|
rs899295679
|
0.00001
|
NM_000203.5(IDUA):c.1335C>T (p.Asp445=)
|
rs1358484457
|
0.00001
|
NM_000203.5(IDUA):c.1356C>T (p.Arg452=)
|
rs1715191739
|
0.00001
|
NM_000203.5(IDUA):c.1389G>A (p.Val463=)
|
rs1207419868
|
0.00001
|
NM_000203.5(IDUA):c.138C>T (p.Phe46=)
|
rs1238977070
|
0.00001
|
NM_000203.5(IDUA):c.1398C>T (p.Gly466=)
|
rs1370338557
|
0.00001
|
NM_000203.5(IDUA):c.1402+9G>T
|
rs748677471
|
0.00001
|
NM_000203.5(IDUA):c.1403-11A>G
|
rs1335436961
|
0.00001
|
NM_000203.5(IDUA):c.1525-15G>A
|
rs755037135
|
0.00001
|
NM_000203.5(IDUA):c.1536C>T (p.Ala512=)
|
rs1392263774
|
0.00001
|
NM_000203.5(IDUA):c.1551C>T (p.Pro517=)
|
rs892707514
|
0.00001
|
NM_000203.5(IDUA):c.1563C>T (p.Gly521=)
|
rs1272602930
|
0.00001
|
NM_000203.5(IDUA):c.1566C>T (p.Gly522=)
|
rs1378890744
|
0.00001
|
NM_000203.5(IDUA):c.1575C>T (p.Thr525=)
|
rs1715239254
|
0.00001
|
NM_000203.5(IDUA):c.158+8C>T
|
rs1210900840
|
0.00001
|
NM_000203.5(IDUA):c.159-19G>A
|
rs375799555
|
0.00001
|
NM_000203.5(IDUA):c.1617C>T (p.His539=)
|
rs774854847
|
0.00001
|
NM_000203.5(IDUA):c.162C>A (p.Pro54=)
|
rs1378930636
|
0.00001
|
NM_000203.5(IDUA):c.1650+10A>G
|
rs751765707
|
0.00001
|
NM_000203.5(IDUA):c.1651-7_1651-3dup
|
rs756443835
|
0.00001
|
NM_000203.5(IDUA):c.1653C>G (p.Val551=)
|
rs367551201
|
0.00001
|
NM_000203.5(IDUA):c.1665C>T (p.Arg555=)
|
rs761466989
|
0.00001
|
NM_000203.5(IDUA):c.1674C>A (p.Pro558=)
|
rs767943753
|
0.00001
|
NM_000203.5(IDUA):c.1727+14G>A
|
rs781039620
|
0.00001
|
NM_000203.5(IDUA):c.1728-13C>T
|
rs764889867
|
0.00001
|
NM_000203.5(IDUA):c.1755C>T (p.Phe585=)
|
rs1457677853
|
0.00001
|
NM_000203.5(IDUA):c.1785C>T (p.Val595=)
|
rs748579220
|
0.00001
|
NM_000203.5(IDUA):c.1794G>A (p.Lys598=)
|
rs770035538
|
0.00001
|
NM_000203.5(IDUA):c.1803C>T (p.Thr601=)
|
rs774370803
|
0.00001
|
NM_000203.5(IDUA):c.1821C>T (p.Phe607=)
|
rs752523518
|
0.00001
|
NM_000203.5(IDUA):c.1828+10C>G
|
rs201851203
|
0.00001
|
NM_000203.5(IDUA):c.1929G>A (p.Val643=)
|
rs147163995
|
0.00001
|
NM_000203.5(IDUA):c.192C>T (p.Tyr64=)
|
rs121965022
|
0.00001
|
NM_000203.5(IDUA):c.198C>G (p.Leu66=)
|
rs773925781
|
0.00001
|
NM_000203.5(IDUA):c.222C>T (p.Leu74=)
|
rs750898638
|
0.00001
|
NM_000203.5(IDUA):c.249C>T (p.Arg83=)
|
rs765563471
|
0.00001
|
NM_000203.5(IDUA):c.255C>T (p.Ile85=)
|
rs983913564
|
0.00001
|
NM_000203.5(IDUA):c.299+10G>A
|
rs775172497
|
0.00001
|
NM_000203.5(IDUA):c.299+8G>A
|
rs546988577
|
0.00001
|
NM_000203.5(IDUA):c.300-5T>C
|
rs760649049
|
0.00001
|
NM_000203.5(IDUA):c.303G>C (p.Gly101=)
|
rs753784242
|
0.00001
|
NM_000203.5(IDUA):c.345C>T (p.Asp115=)
|
rs760987501
|
0.00001
|
NM_000203.5(IDUA):c.354G>C (p.Leu118=)
|
rs1207917122
|
0.00001
|
NM_000203.5(IDUA):c.357C>T (p.Asp119=)
|
rs1262464994
|
0.00001
|
NM_000203.5(IDUA):c.366G>A (p.Arg122=)
|
rs1428860307
|
0.00001
|
NM_000203.5(IDUA):c.369G>A (p.Glu123=)
|
rs1314132117
|
0.00001
|
NM_000203.5(IDUA):c.378C>T (p.Leu126=)
|
rs751124890
|
0.00001
|
NM_000203.5(IDUA):c.386-7G>A
|
rs1047377009
|
0.00001
|
NM_000203.5(IDUA):c.39C>T (p.Leu13=)
|
rs1335015335
|
0.00001
|
NM_000203.5(IDUA):c.468C>T (p.Val156=)
|
rs763532209
|
0.00001
|
NM_000203.5(IDUA):c.489C>T (p.Tyr163=)
|
rs1269229840
|
0.00001
|
NM_000203.5(IDUA):c.504A>C (p.Gly168=)
|
rs1489276333
|
0.00001
|
NM_000203.5(IDUA):c.522G>A (p.Lys174=)
|
rs939618645
|
0.00001
|
NM_000203.5(IDUA):c.528C>T (p.Asn176=)
|
rs538650622
|
0.00001
|
NM_000203.5(IDUA):c.534G>A (p.Glu178=)
|
rs762533612
|
0.00001
|
NM_000203.5(IDUA):c.571G>C (p.Val191Leu)
|
rs746908649
|
0.00001
|
NM_000203.5(IDUA):c.590-10C>T
|
rs1193288754
|
0.00001
|
NM_000203.5(IDUA):c.609T>C (p.Asp203=)
|
rs1577539347
|
0.00001
|
NM_000203.5(IDUA):c.648G>A (p.Leu216=)
|
rs1289155564
|
0.00001
|
NM_000203.5(IDUA):c.672C>T (p.Ser224=)
|
rs1355304778
|
0.00001
|
NM_000203.5(IDUA):c.693C>T (p.Ser231=)
|
rs529773032
|
0.00001
|
NM_000203.5(IDUA):c.744C>T (p.Phe248=)
|
rs775908560
|
0.00001
|
NM_000203.5(IDUA):c.756G>A (p.Ala252=)
|
rs776670337
|
0.00001
|
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)
|
rs546933529
|
0.00001
|
NM_000203.5(IDUA):c.789G>A (p.Arg263=)
|
rs1191147769
|
0.00001
|
NM_000203.5(IDUA):c.792+7C>A
|
rs1577539934
|
0.00001
|
NM_000203.5(IDUA):c.792+9T>C
|
rs1477707256
|
0.00001
|
NM_000203.5(IDUA):c.793-4G>T
|
rs773734796
|
0.00001
|
NM_000203.5(IDUA):c.793-8G>A
|
rs1360168258
|
0.00001
|
NM_000203.5(IDUA):c.801C>T (p.Arg267=)
|
rs751167219
|
0.00001
|
NM_000203.5(IDUA):c.810C>T (p.Ile270=)
|
rs1241791378
|
0.00001
|
NM_000203.5(IDUA):c.813C>T (p.Ser271=)
|
rs569215528
|
0.00001
|
NM_000203.5(IDUA):c.822G>A (p.Glu274=)
|
rs1160519179
|
0.00001
|
NM_000203.5(IDUA):c.91C>T (p.Leu31=)
|
rs1257215898
|
0.00001
|
NM_000203.5(IDUA):c.933G>A (p.Pro311=)
|
rs1441908136
|
0.00001
|
NM_000203.5(IDUA):c.945C>T (p.Asp315=)
|
rs1256735931
|
0.00001
|
NM_000203.5(IDUA):c.948G>T (p.Val316=)
|
rs1463496008
|
0.00001
|
NM_000203.5(IDUA):c.969G>A (p.Val323=)
|
rs1344410522
|
0.00001
|
NM_000203.5(IDUA):c.972+8G>A
|
rs774327124
|
0.00001
|
NM_000203.5(IDUA):c.1011C>T (p.Thr337=)
|
rs142464969
|
|
NM_000203.5(IDUA):c.1014C>G (p.Thr338=)
|
|
|
NM_000203.5(IDUA):c.1014C>T (p.Thr338=)
|
rs1300855516
|
|
NM_000203.5(IDUA):c.1017C>T (p.Ser339=)
|
|
|
NM_000203.5(IDUA):c.1020C>T (p.Ala340=)
|
|
|
NM_000203.5(IDUA):c.1023C>T (p.Phe341=)
|
|
|
NM_000203.5(IDUA):c.1026C>A (p.Pro342=)
|
|
|
NM_000203.5(IDUA):c.1029C>T (p.Tyr343=)
|
rs764196171
|
|
NM_000203.5(IDUA):c.1032G>C (p.Ala344=)
|
|
|
NM_000203.5(IDUA):c.1032G>T (p.Ala344=)
|
|
|
NM_000203.5(IDUA):c.1035C>T (p.Leu345=)
|
|
|
NM_000203.5(IDUA):c.1038G>C (p.Leu346=)
|
rs758334375
|
|
NM_000203.5(IDUA):c.1041C>T (p.Ser347=)
|
rs2153022353
|
|
NM_000203.5(IDUA):c.1044C>T (p.Asn348=)
|
rs746766617
|
|
NM_000203.5(IDUA):c.1053C>G (p.Ala351=)
|
rs762621113
|
|
NM_000203.5(IDUA):c.1059G>A (p.Leu353=)
|
rs2153022362
|
|
NM_000203.5(IDUA):c.1062C>T (p.Ser354=)
|
|
|
NM_000203.5(IDUA):c.1068C>T (p.His356=)
|
rs1577541175
|
|
NM_000203.5(IDUA):c.1071G>A (p.Pro357=)
|
|
|
NM_000203.5(IDUA):c.1077C>A (p.Pro359=)
|
|
|
NM_000203.5(IDUA):c.1077C>G (p.Pro359=)
|
|
|
NM_000203.5(IDUA):c.1077C>T (p.Pro359=)
|
rs374666235
|
|
NM_000203.5(IDUA):c.1080C>T (p.Phe360=)
|
|
|
NM_000203.5(IDUA):c.108G>C (p.Ala36=)
|
|
|
NM_000203.5(IDUA):c.1101G>T (p.Ala367=)
|
rs1208743786
|
|
NM_000203.5(IDUA):c.1104C>T (p.Arg368=)
|
rs747739718
|
|
NM_000203.5(IDUA):c.1110G>A (p.Gln370=)
|
|
|
NM_000203.5(IDUA):c.1113C>A (p.Val371=)
|
rs777631094
|
|
NM_000203.5(IDUA):c.1113C>T (p.Val371=)
|
|
|
NM_000203.5(IDUA):c.1122C>T (p.Thr374=)
|
|
|
NM_000203.5(IDUA):c.1125C>T (p.Arg375=)
|
|
|
NM_000203.5(IDUA):c.1131G>A (p.Pro377=)
|
rs1715149905
|
|
NM_000203.5(IDUA):c.1131G>T (p.Pro377=)
|
|
|
NM_000203.5(IDUA):c.1141C>T (p.Leu381=)
|
|
|
NM_000203.5(IDUA):c.1149C>G (p.Arg383=)
|
|
|
NM_000203.5(IDUA):c.1149C>T (p.Arg383=)
|
rs767632084
|
|
NM_000203.5(IDUA):c.1161C>T (p.Leu387=)
|
rs1553917312
|
|
NM_000203.5(IDUA):c.1164G>A (p.Thr388=)
|
rs6836258
|
|
NM_000203.5(IDUA):c.1164G>T (p.Thr388=)
|
rs6836258
|
|
NM_000203.5(IDUA):c.1167C>T (p.Ala389=)
|
rs1715153431
|
|
NM_000203.5(IDUA):c.1173G>T (p.Gly391=)
|
|
|
NM_000203.5(IDUA):c.1182G>C (p.Ala394=)
|
|
|
NM_000203.5(IDUA):c.1189+10G>A
|
|
|
NM_000203.5(IDUA):c.1189+13C>A
|
|
|
NM_000203.5(IDUA):c.1189+13del
|
|
|
NM_000203.5(IDUA):c.1189+14G>A
|
|
|
NM_000203.5(IDUA):c.1189+16T>C
|
|
|
NM_000203.5(IDUA):c.1189+17G>A
|
|
|
NM_000203.5(IDUA):c.1189+19G>T
|
|
|
NM_000203.5(IDUA):c.1189+8G>A
|
|
|
NM_000203.5(IDUA):c.1190-10C>G
|
rs1443642527
|
|
NM_000203.5(IDUA):c.1190-11C>A
|
|
|
NM_000203.5(IDUA):c.1190-11C>G
|
|
|
NM_000203.5(IDUA):c.1190-11C>T
|
|
|
NM_000203.5(IDUA):c.1190-11_1190-10insG
|
|
|
NM_000203.5(IDUA):c.1190-11_1190-10insT
|
|
|
NM_000203.5(IDUA):c.1190-12C>A
|
|
|
NM_000203.5(IDUA):c.1190-12C>G
|
|
|
NM_000203.5(IDUA):c.1190-12_1190-11insA
|
|
|
NM_000203.5(IDUA):c.1190-12_1190-11insG
|
|
|
NM_000203.5(IDUA):c.1190-13C>A
|
|
|
NM_000203.5(IDUA):c.1190-13C>G
|
|
|
NM_000203.5(IDUA):c.1190-13C>T
|
|
|
NM_000203.5(IDUA):c.1190-14C>G
|
|
|
NM_000203.5(IDUA):c.1190-14C>T
|
|
|
NM_000203.5(IDUA):c.1190-14_1190-13insT
|
|
|
NM_000203.5(IDUA):c.1190-15C>T
|
|
|
NM_000203.5(IDUA):c.1190-16C>G
|
|
|
NM_000203.5(IDUA):c.1190-17C>A
|
|
|
NM_000203.5(IDUA):c.1190-17C>T
|
|
|
NM_000203.5(IDUA):c.1190-18C>A
|
|
|
NM_000203.5(IDUA):c.1190-18C>T
|
|
|
NM_000203.5(IDUA):c.1190-19G>A
|
|
|
NM_000203.5(IDUA):c.1190-20G>A
|
|
|
NM_000203.5(IDUA):c.1190-20G>T
|
|
|
NM_000203.5(IDUA):c.1190-4G>A
|
rs763252022
|
|
NM_000203.5(IDUA):c.1190-8C>A
|
|
|
NM_000203.5(IDUA):c.1190-8C>T
|
|
|
NM_000203.5(IDUA):c.1190-9G>A
|
|
|
NM_000203.5(IDUA):c.1191T>C (p.Asp397=)
|
|
|
NM_000203.5(IDUA):c.1209C>T (p.Ala403=)
|
rs990733414
|
|
NM_000203.5(IDUA):c.1215G>T (p.Val405=)
|
|
|
NM_000203.5(IDUA):c.1218G>A (p.Ser406=)
|
rs917822878
|
|
NM_000203.5(IDUA):c.1218G>T (p.Ser406=)
|
rs917822878
|
|
NM_000203.5(IDUA):c.1224C>G (p.Ala408=)
|
|
|
NM_000203.5(IDUA):c.1225G>A (p.Gly409Arg)
|
rs11934801
|
|
NM_000203.5(IDUA):c.1227G>A (p.Gly409=)
|
rs2153022577
|
|
NM_000203.5(IDUA):c.1230C>A (p.Thr410=)
|
rs115790973
|
|
NM_000203.5(IDUA):c.1230C>T (p.Thr410=)
|
rs115790973
|
|
NM_000203.5(IDUA):c.1236G>C (p.Leu412=)
|
rs2153022592
|
|
NM_000203.5(IDUA):c.1251G>C (p.Thr417=)
|
|
|
NM_000203.5(IDUA):c.1257C>G (p.Gly419=)
|
rs1256676778
|
|
NM_000203.5(IDUA):c.1269C>T (p.Ser423=)
|
rs931627770
|
|
NM_000203.5(IDUA):c.1271C>T (p.Ala424Val)
|
|
|
NM_000203.5(IDUA):c.1272C>T (p.Ala424=)
|
|
|
NM_000203.5(IDUA):c.1278C>A (p.Arg426=)
|
|
|
NM_000203.5(IDUA):c.127C>T (p.Leu43=)
|
rs2153015240
|
|
NM_000203.5(IDUA):c.1281C>A (p.Pro427=)
|
rs2153022616
|
|
NM_000203.5(IDUA):c.1281C>T (p.Pro427=)
|
rs2153022616
|
|
NM_000203.5(IDUA):c.1287C>G (p.Gly429=)
|
rs2153022621
|
|
NM_000203.5(IDUA):c.1290G>C (p.Pro430=)
|
|
|
NM_000203.5(IDUA):c.1293C>A (p.Ala431=)
|
rs559676638
|
|
NM_000203.5(IDUA):c.1293C>G (p.Ala431=)
|
rs559676638
|
|
NM_000203.5(IDUA):c.1296C>T (p.Asp432=)
|
rs2153022623
|
|
NM_000203.5(IDUA):c.1305C>A (p.Arg435=)
|
rs1577542420
|
|
NM_000203.5(IDUA):c.1323C>T (p.Tyr441=)
|
rs1463087550
|
|
NM_000203.5(IDUA):c.1326G>A (p.Ala442=)
|
rs1374287949
|
|
NM_000203.5(IDUA):c.1326G>T (p.Ala442=)
|
|
|
NM_000203.5(IDUA):c.1329C>T (p.Ser443=)
|
|
|
NM_000203.5(IDUA):c.132G>A (p.Arg44=)
|
rs2153015245
|
|
NM_000203.5(IDUA):c.1330G>A (p.Asp444Asn)
|
|
|
NM_000203.5(IDUA):c.1338C>G (p.Thr446=)
|
rs2153022644
|
|
NM_000203.5(IDUA):c.1338C>T (p.Thr446=)
|
|
|
NM_000203.5(IDUA):c.1344C>G (p.Ala448=)
|
|
|
NM_000203.5(IDUA):c.1359C>T (p.Ser453=)
|
|
|
NM_000203.5(IDUA):c.135C>T (p.Arg45=)
|
|
|
NM_000203.5(IDUA):c.1362C>A (p.Val454=)
|
rs1394012754
|
|
NM_000203.5(IDUA):c.1362C>G (p.Val454=)
|
rs1394012754
|
|
NM_000203.5(IDUA):c.1365G>A (p.Ala455=)
|
|
|
NM_000203.5(IDUA):c.1368G>A (p.Val456=)
|
rs1175142973
|
|
NM_000203.5(IDUA):c.1371C>A (p.Thr457=)
|
|
|
NM_000203.5(IDUA):c.1371C>T (p.Thr457=)
|
rs1468338796
|
|
NM_000203.5(IDUA):c.1377G>A (p.Arg459=)
|
|
|
NM_000203.5(IDUA):c.1380G>A (p.Leu460=)
|
rs978001242
|
|
NM_000203.5(IDUA):c.1386G>A (p.Gly462=)
|
rs2153022680
|
|
NM_000203.5(IDUA):c.1402+11G>A
|
rs2153022703
|
|
NM_000203.5(IDUA):c.1402+11_1402+13del
|
|
|
NM_000203.5(IDUA):c.1402+18G>A
|
|
|
NM_000203.5(IDUA):c.1402+19G>C
|
|
|
NM_000203.5(IDUA):c.1402+20A>C
|
|
|
NM_000203.5(IDUA):c.1402+7C>T
|
rs2153022699
|
|
NM_000203.5(IDUA):c.1402+8G>C
|
|
|
NM_000203.5(IDUA):c.1403-18G>A
|
|
|
NM_000203.5(IDUA):c.1403-20C>T
|
|
|
NM_000203.5(IDUA):c.1403-5C>G
|
rs930815881
|
|
NM_000203.5(IDUA):c.1403-7C>T
|
|
|
NM_000203.5(IDUA):c.1403-9G>T
|
|
|
NM_000203.5(IDUA):c.1404C>G (p.Gly468=)
|
|
|
NM_000203.5(IDUA):c.1407G>T (p.Leu469=)
|
|
|
NM_000203.5(IDUA):c.1413C>T (p.Tyr471=)
|
rs753138197
|
|
NM_000203.5(IDUA):c.1416C>A (p.Val472=)
|
|
|
NM_000203.5(IDUA):c.1416C>T (p.Val472=)
|
rs1715205390
|
|
NM_000203.5(IDUA):c.1419G>A (p.Thr473=)
|
rs1715205662
|
|
NM_000203.5(IDUA):c.1437G>A (p.Gly479=)
|
rs2153022756
|
|
NM_000203.5(IDUA):c.1437G>C (p.Gly479=)
|
|
|
NM_000203.5(IDUA):c.1437G>T (p.Gly479=)
|
rs2153022756
|
|
NM_000203.5(IDUA):c.1440C>G (p.Leu480=)
|
rs760901993
|
|
NM_000203.5(IDUA):c.1440C>T (p.Leu480=)
|
rs760901993
|
|
NM_000203.5(IDUA):c.1449C>A (p.Pro483=)
|
rs761637332
|
|
NM_000203.5(IDUA):c.1449C>G (p.Pro483=)
|
rs761637332
|
|
NM_000203.5(IDUA):c.1449C>T (p.Pro483=)
|
rs761637332
|
|
NM_000203.5(IDUA):c.1452C>T (p.Asp484=)
|
rs4690224
|
|
NM_000203.5(IDUA):c.1455C>G (p.Gly485=)
|
|
|
NM_000203.5(IDUA):c.1462C>A (p.Arg488=)
|
rs868460406
|
|
NM_000203.5(IDUA):c.1467C>G (p.Arg489=)
|
rs115929690
|
|
NM_000203.5(IDUA):c.1468C>T (p.Leu490=)
|
|
|
NM_000203.5(IDUA):c.1470G>A (p.Leu490=)
|
rs1715211623
|
|
NM_000203.5(IDUA):c.1476G>C (p.Arg492=)
|
rs2153022780
|
|
NM_000203.5(IDUA):c.1479C>G (p.Pro493=)
|
rs370394527
|
|
NM_000203.5(IDUA):c.147C>T (p.Ser49=)
|
rs2153015263
|
|
NM_000203.5(IDUA):c.1485C>T (p.Phe495=)
|
rs746018077
|
|
NM_000203.5(IDUA):c.1488C>T (p.Pro496=)
|
rs780479570
|
|
NM_000203.5(IDUA):c.1491G>A (p.Thr497=)
|
rs374102243
|
|
NM_000203.5(IDUA):c.1491G>C (p.Thr497=)
|
rs374102243
|
|
NM_000203.5(IDUA):c.1491G>T (p.Thr497=)
|
rs374102243
|
|
NM_000203.5(IDUA):c.1494A>G (p.Ala498=)
|
|
|
NM_000203.5(IDUA):c.1497G>A (p.Glu499=)
|
|
|
NM_000203.5(IDUA):c.1509C>T (p.Arg503=)
|
|
|
NM_000203.5(IDUA):c.150A>G (p.Thr50=)
|
rs2153015268
|
|
NM_000203.5(IDUA):c.1515C>G (p.Arg505=)
|
|
|
NM_000203.5(IDUA):c.1518G>C (p.Ala506=)
|
rs772988328
|
|
NM_000203.5(IDUA):c.1521T>C (p.Ala507=)
|
|
|
NM_000203.5(IDUA):c.1524+11C>G
|
|
|
NM_000203.5(IDUA):c.1524+11C>T
|
|
|
NM_000203.5(IDUA):c.1524+12G>A
|
|
|
NM_000203.5(IDUA):c.1524+13C>A
|
|
|
NM_000203.5(IDUA):c.1524+14G>C
|
|
|
NM_000203.5(IDUA):c.1524+15G>A
|
|
|
NM_000203.5(IDUA):c.1524+15G>T
|
|
|
NM_000203.5(IDUA):c.1524+16A>T
|
|
|
NM_000203.5(IDUA):c.1524+17G>A
|
|
|
NM_000203.5(IDUA):c.1524+18G>C
|
|
|
NM_000203.5(IDUA):c.1524+19G>A
|
|
|
NM_000203.5(IDUA):c.1524+20G>C
|
|
|
NM_000203.5(IDUA):c.1525-13C>A
|
|
|
NM_000203.5(IDUA):c.1525-15G>T
|
|
|
NM_000203.5(IDUA):c.1525-16C>G
|
rs941426443
|
|
NM_000203.5(IDUA):c.1525-16C>T
|
|
|
NM_000203.5(IDUA):c.1525-16del
|
|
|
NM_000203.5(IDUA):c.1525-17C>G
|
|
|
NM_000203.5(IDUA):c.1525-17C>T
|
|
|
NM_000203.5(IDUA):c.1525-20G>A
|
|
|
NM_000203.5(IDUA):c.1525-3dup
|
rs762593235
|
|
NM_000203.5(IDUA):c.1525-4C>G
|
rs1715234723
|
|
NM_000203.5(IDUA):c.1525-5C>T
|
rs2153022876
|
|
NM_000203.5(IDUA):c.1525-6G>C
|
rs1560549741
|
|
NM_000203.5(IDUA):c.1525-6G>T
|
rs1560549741
|
|
NM_000203.5(IDUA):c.1530G>A (p.Pro510=)
|
|
|
NM_000203.5(IDUA):c.1530G>T (p.Pro510=)
|
|
|
NM_000203.5(IDUA):c.1539G>C (p.Ala513=)
|
rs1715236417
|
|
NM_000203.5(IDUA):c.1539G>T (p.Ala513=)
|
|
|
NM_000203.5(IDUA):c.1551C>G (p.Pro517=)
|
rs892707514
|
|
NM_000203.5(IDUA):c.1560C>G (p.Ala520=)
|
|
|
NM_000203.5(IDUA):c.1560C>T (p.Ala520=)
|
|
|
NM_000203.5(IDUA):c.1563C>G (p.Gly521=)
|
|
|
NM_000203.5(IDUA):c.1576C>T (p.Leu526=)
|
|
|
NM_000203.5(IDUA):c.158+11C>T
|
|
|
NM_000203.5(IDUA):c.158+12G>A
|
|
|
NM_000203.5(IDUA):c.158+13C>T
|
|
|
NM_000203.5(IDUA):c.158+16C>G
|
|
|
NM_000203.5(IDUA):c.158+16C>T
|
|
|
NM_000203.5(IDUA):c.158+18T>C
|
|
|
NM_000203.5(IDUA):c.158+7G>T
|
rs1488477352
|
|
NM_000203.5(IDUA):c.158+9T>C
|
|
|
NM_000203.5(IDUA):c.1584C>G (p.Pro528=)
|
|
|
NM_000203.5(IDUA):c.1584C>T (p.Pro528=)
|
rs1553917553
|
|
NM_000203.5(IDUA):c.1587G>C (p.Ala529=)
|
|
|
NM_000203.5(IDUA):c.1588C>T (p.Leu530=)
|
rs749053703
|
|
NM_000203.5(IDUA):c.159-17C>T
|
|
|
NM_000203.5(IDUA):c.159-18C>T
|
|
|
NM_000203.5(IDUA):c.159-20C>A
|
|
|
NM_000203.5(IDUA):c.159-20C>T
|
|
|
NM_000203.5(IDUA):c.159-6C>T
|
rs538533905
|
|
NM_000203.5(IDUA):c.159-9T>C
|
|
|
NM_000203.5(IDUA):c.1591C>A (p.Arg531=)
|
|
|
NM_000203.5(IDUA):c.1593G>A (p.Arg531=)
|
|
|
NM_000203.5(IDUA):c.1594C>T (p.Leu532=)
|
|
|
NM_000203.5(IDUA):c.1596G>A (p.Leu532=)
|
rs2153022921
|
|
NM_000203.5(IDUA):c.1599G>T (p.Pro533=)
|
|
|
NM_000203.5(IDUA):c.15C>A (p.Arg5=)
|
|
|
NM_000203.5(IDUA):c.15C>G (p.Arg5=)
|
|
|
NM_000203.5(IDUA):c.15C>T (p.Arg5=)
|
rs750154430
|
|
NM_000203.5(IDUA):c.1609C>T (p.Leu537=)
|
rs916118864
|
|
NM_000203.5(IDUA):c.1614G>A (p.Val538=)
|
|
|
NM_000203.5(IDUA):c.1623T>C (p.Cys541=)
|
|
|
NM_000203.5(IDUA):c.162C>T (p.Pro54=)
|
rs1378930636
|
|
NM_000203.5(IDUA):c.1641G>A (p.Pro547=)
|
rs751005613
|
|
NM_000203.5(IDUA):c.1641G>C (p.Pro547=)
|
|
|
NM_000203.5(IDUA):c.1641G>T (p.Pro547=)
|
rs751005613
|
|
NM_000203.5(IDUA):c.1644C>G (p.Pro548=)
|
|
|
NM_000203.5(IDUA):c.1644C>T (p.Pro548=)
|
|
|
NM_000203.5(IDUA):c.1647G>A (p.Gly549=)
|
rs2153022957
|
|
NM_000203.5(IDUA):c.1647G>C (p.Gly549=)
|
|
|
NM_000203.5(IDUA):c.1650+10A>T
|
|
|
NM_000203.5(IDUA):c.1650+12T>A
|
|
|
NM_000203.5(IDUA):c.1650+12T>C
|
rs1715248390
|
|
NM_000203.5(IDUA):c.1650+12T>G
|
|
|
NM_000203.5(IDUA):c.1650+13C>A
|
|
|
NM_000203.5(IDUA):c.1650+13C>T
|
|
|
NM_000203.5(IDUA):c.1650+14C>T
|
|
|
NM_000203.5(IDUA):c.1650+16C>T
|
|
|
NM_000203.5(IDUA):c.1650+8G>A
|
rs1303834044
|
|
NM_000203.5(IDUA):c.1650+9C>T
|
rs1715247936
|
|
NM_000203.5(IDUA):c.1650+9_1650+10insT
|
|
|
NM_000203.5(IDUA):c.1651-10C>T
|
rs548878643
|
|
NM_000203.5(IDUA):c.1651-11C>A
|
|
|
NM_000203.5(IDUA):c.1651-11C>G
|
|
|
NM_000203.5(IDUA):c.1651-14C>T
|
|
|
NM_000203.5(IDUA):c.1651-15C>A
|
|
|
NM_000203.5(IDUA):c.1651-15C>T
|
|
|
NM_000203.5(IDUA):c.1651-4C>G
|
rs1715254489
|
|
NM_000203.5(IDUA):c.1651-5C>T
|
|
|
NM_000203.5(IDUA):c.1651-6C>G
|
|
|
NM_000203.5(IDUA):c.1651-6C>T
|
rs1268730017
|
|
NM_000203.5(IDUA):c.1651-7C>A
|
rs934115207
|
|
NM_000203.5(IDUA):c.1651-7C>T
|
rs934115207
|
|
NM_000203.5(IDUA):c.1651-9C>T
|
rs2153022985
|
|
NM_000203.5(IDUA):c.1651-9del
|
|
|
NM_000203.5(IDUA):c.1651-9dup
|
|
|
NM_000203.5(IDUA):c.165G>A (p.Pro55=)
|
rs1316670340
|
|
NM_000203.5(IDUA):c.1662C>A (p.Leu554=)
|
rs1051037909
|
|
NM_000203.5(IDUA):c.1669C>T (p.Leu557=)
|
|
|
NM_000203.5(IDUA):c.1674C>T (p.Pro558=)
|
rs767943753
|
|
NM_000203.5(IDUA):c.1675C>T (p.Leu559=)
|
rs1715257303
|
|
NM_000203.5(IDUA):c.1677G>C (p.Leu559=)
|
|
|
NM_000203.5(IDUA):c.1683A>G (p.Gln561=)
|
|
|
NM_000203.5(IDUA):c.1686G>A (p.Gly562=)
|
|
|
NM_000203.5(IDUA):c.1686G>C (p.Gly562=)
|
rs2153023022
|
|
NM_000203.5(IDUA):c.1689G>A (p.Gln563=)
|
rs1577544315
|
|
NM_000203.5(IDUA):c.1690C>T (p.Leu564=)
|
|
|
NM_000203.5(IDUA):c.1692G>A (p.Leu564=)
|
rs749848297
|
|
NM_000203.5(IDUA):c.1692G>C (p.Leu564=)
|
rs749848297
|
|
NM_000203.5(IDUA):c.1692G>T (p.Leu564=)
|
|
|
NM_000203.5(IDUA):c.1695T>C (p.Val565=)
|
rs1577544372
|
|
NM_000203.5(IDUA):c.1696C>T (p.Leu566=)
|
rs2153023029
|
|
NM_000203.5(IDUA):c.1707G>A (p.Ser569=)
|
|
|
NM_000203.5(IDUA):c.1707G>T (p.Ser569=)
|
|
|
NM_000203.5(IDUA):c.1722C>T (p.Gly574=)
|
rs1307428521
|
|
NM_000203.5(IDUA):c.1727+13G>A
|
|
|
NM_000203.5(IDUA):c.1727+14G>C
|
|
|
NM_000203.5(IDUA):c.1727+17G>A
|
|
|
NM_000203.5(IDUA):c.1727+17G>T
|
|
|
NM_000203.5(IDUA):c.1727+18C>T
|
|
|
NM_000203.5(IDUA):c.1727+19_1727+21del
|
|
|
NM_000203.5(IDUA):c.1727+7G>A
|
rs1167057119
|
|
NM_000203.5(IDUA):c.1727+9G>A
|
rs771420258
|
|
NM_000203.5(IDUA):c.1727+9G>T
|
rs771420258
|
|
NM_000203.5(IDUA):c.1728-18T>C
|
|
|
NM_000203.5(IDUA):c.1728-3dup
|
rs2153023160
|
|
NM_000203.5(IDUA):c.1728-4C>A
|
rs775914231
|
|
NM_000203.5(IDUA):c.1728-4_1728-3del
|
rs2153023160
|
|
NM_000203.5(IDUA):c.1728-8C>T
|
rs2153023159
|
|
NM_000203.5(IDUA):c.1740A>T (p.Thr580=)
|
rs1577545150
|
|
NM_000203.5(IDUA):c.1743C>T (p.Tyr581=)
|
rs776787370
|
|
NM_000203.5(IDUA):c.1758T>C (p.Ser586=)
|
rs766308077
|
|
NM_000203.5(IDUA):c.1761G>A (p.Gln587=)
|
rs1715292284
|
|
NM_000203.5(IDUA):c.1770G>A (p.Lys590=)
|
rs2153023181
|
|
NM_000203.5(IDUA):c.1773G>T (p.Ala591=)
|
rs148894462
|
|
NM_000203.5(IDUA):c.1779C>A (p.Thr593=)
|
rs2153023191
|
|
NM_000203.5(IDUA):c.1779C>T (p.Thr593=)
|
|
|
NM_000203.5(IDUA):c.1782G>A (p.Pro594=)
|
rs781543137
|
|
NM_000203.5(IDUA):c.1782G>C (p.Pro594=)
|
|
|
NM_000203.5(IDUA):c.1809C>T (p.Asn603=)
|
rs2153023208
|
|
NM_000203.5(IDUA):c.1812C>G (p.Leu604=)
|
|
|
NM_000203.5(IDUA):c.1818G>A (p.Val606=)
|
rs1439543893
|
|
NM_000203.5(IDUA):c.1828+12A>C
|
|
|
NM_000203.5(IDUA):c.1828+14C>T
|
|
|
NM_000203.5(IDUA):c.1828+15C>T
|
|
|
NM_000203.5(IDUA):c.1828+15dup
|
|
|
NM_000203.5(IDUA):c.1828+20C>T
|
|
|
NM_000203.5(IDUA):c.1828+8C>A
|
rs2153023217
|
|
NM_000203.5(IDUA):c.1829-12C>T
|
|
|
NM_000203.5(IDUA):c.1829-13C>A
|
rs756441262
|
|
NM_000203.5(IDUA):c.1829-13C>T
|
|
|
NM_000203.5(IDUA):c.1829-14C>A
|
|
|
NM_000203.5(IDUA):c.1829-15del
|
|
|
NM_000203.5(IDUA):c.1829-18A>C
|
|
|
NM_000203.5(IDUA):c.1829-18_1829-17del
|
|
|
NM_000203.5(IDUA):c.1829-4C>G
|
rs757535645
|
|
NM_000203.5(IDUA):c.1829-4C>T
|
rs757535645
|
|
NM_000203.5(IDUA):c.1829-6C>T
|
rs1400504829
|
|
NM_000203.5(IDUA):c.1833A>C (p.Thr611=)
|
rs1296925054
|
|
NM_000203.5(IDUA):c.1836T>G (p.Gly612=)
|
rs1278005228
|
|
NM_000203.5(IDUA):c.1839T>C (p.Ala613=)
|
|
|
NM_000203.5(IDUA):c.183T>A (p.Ala61=)
|
|
|
NM_000203.5(IDUA):c.1848C>T (p.Gly616=)
|
rs2153023273
|
|
NM_000203.5(IDUA):c.1854C>T (p.Tyr618=)
|
|
|
NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln)
|
rs372137794
|
|
NM_000203.5(IDUA):c.1866C>T (p.Ala622=)
|
|
|
NM_000203.5(IDUA):c.1867C>T (p.Leu623=)
|
|
|
NM_000203.5(IDUA):c.1881C>T (p.Ala627=)
|
|
|
NM_000203.5(IDUA):c.1882C>A (p.Arg628=)
|
|
|
NM_000203.5(IDUA):c.1884A>C (p.Arg628=)
|
|
|
NM_000203.5(IDUA):c.1896C>T (p.Phe632=)
|
|
|
NM_000203.5(IDUA):c.18C>T (p.Pro6=)
|
rs1412821087
|
|
NM_000203.5(IDUA):c.1914C>T (p.Tyr638=)
|
rs768467230
|
|
NM_000203.5(IDUA):c.1915C>T (p.Leu639=)
|
|
|
NM_000203.5(IDUA):c.1923C>G (p.Val641=)
|
rs2153023320
|
|
NM_000203.5(IDUA):c.1923C>T (p.Val641=)
|
|
|
NM_000203.5(IDUA):c.1929G>C (p.Val643=)
|
|
|
NM_000203.5(IDUA):c.1932A>G (p.Pro644=)
|
|
|
NM_000203.5(IDUA):c.1936G>C (p.Gly646Arg)
|
|
|
NM_000203.5(IDUA):c.1938G>A (p.Gly646=)
|
|
|
NM_000203.5(IDUA):c.1947C>T (p.Ser649=)
|
|
|
NM_000203.5(IDUA):c.1950G>A (p.Pro650=)
|
|
|
NM_000203.5(IDUA):c.1950G>C (p.Pro650=)
|
|
|
NM_000203.5(IDUA):c.1950G>T (p.Pro650=)
|
rs112884255
|
|
NM_000203.5(IDUA):c.1953C>G (p.Gly651=)
|
rs2153023339
|
|
NM_000203.5(IDUA):c.1959A>T (p.Pro653=)
|
rs1264323702
|
|
NM_000203.5(IDUA):c.21C>A (p.Arg7=)
|
rs1240723907
|
|
NM_000203.5(IDUA):c.225C>T (p.Ala75=)
|
|
|
NM_000203.5(IDUA):c.228T>C (p.Tyr76=)
|
rs2153015654
|
|
NM_000203.5(IDUA):c.246C>T (p.His82=)
|
rs148775298
|
|
NM_000203.5(IDUA):c.249C>A (p.Arg83=)
|
rs765563471
|
|
NM_000203.5(IDUA):c.249C>G (p.Arg83=)
|
|
|
NM_000203.5(IDUA):c.258G>A (p.Lys86=)
|
|
|
NM_000203.5(IDUA):c.267G>A (p.Arg89=)
|
rs2153015687
|
|
NM_000203.5(IDUA):c.270C>T (p.Thr90=)
|
rs1307291779
|
|
NM_000203.5(IDUA):c.27G>A (p.Ala9=)
|
|
|
NM_000203.5(IDUA):c.280C>T (p.Leu94=)
|
|
|
NM_000203.5(IDUA):c.291C>T (p.Val97=)
|
|
|
NM_000203.5(IDUA):c.297C>G (p.Thr99=)
|
rs1713873324
|
|
NM_000203.5(IDUA):c.297C>T (p.Thr99=)
|
rs1713873324
|
|
NM_000203.5(IDUA):c.299+10G>C
|
rs775172497
|
|
NM_000203.5(IDUA):c.299+10G>T
|
rs775172497
|
|
NM_000203.5(IDUA):c.299+14A>G
|
|
|
NM_000203.5(IDUA):c.299+15G>A
|
|
|
NM_000203.5(IDUA):c.300-10C>T
|
rs753019413
|
|
NM_000203.5(IDUA):c.300-12G>A
|
|
|
NM_000203.5(IDUA):c.300-13C>G
|
|
|
NM_000203.5(IDUA):c.300-13C>T
|
|
|
NM_000203.5(IDUA):c.300-16G>A
|
|
|
NM_000203.5(IDUA):c.300-18C>T
|
|
|
NM_000203.5(IDUA):c.300-4G>A
|
rs2153021604
|
|
NM_000203.5(IDUA):c.300-8T>C
|
|
|
NM_000203.5(IDUA):c.300-8T>G
|
|
|
NM_000203.5(IDUA):c.300-9C>T
|
rs1715011725
|
|
NM_000203.5(IDUA):c.303G>A (p.Gly101=)
|
|
|
NM_000203.5(IDUA):c.303G>T (p.Gly101=)
|
rs753784242
|
|
NM_000203.5(IDUA):c.306C>T (p.Ser102=)
|
rs750244326
|
|
NM_000203.5(IDUA):c.312A>C (p.Gly104=)
|
rs2153021615
|
|
NM_000203.5(IDUA):c.321G>C (p.Leu107=)
|
rs771434526
|
|
NM_000203.5(IDUA):c.324C>T (p.Ser108=)
|
rs1304587706
|
|
NM_000203.5(IDUA):c.330C>T (p.Asn110=)
|
rs1715015617
|
|
NM_000203.5(IDUA):c.33G>T (p.Leu11=)
|
|
|
NM_000203.5(IDUA):c.340C>T (p.Leu114=)
|
|
|
NM_000203.5(IDUA):c.346G>C (p.Gly116Arg)
|
rs148946496
|
|
NM_000203.5(IDUA):c.351C>T (p.Tyr117=)
|
|
|
NM_000203.5(IDUA):c.363C>T (p.Leu121=)
|
|
|
NM_000203.5(IDUA):c.36G>C (p.Ala12=)
|
rs1403980379
|
|
NM_000203.5(IDUA):c.36G>T (p.Ala12=)
|
|
|
NM_000203.5(IDUA):c.378C>G (p.Leu126=)
|
|
|
NM_000203.5(IDUA):c.381C>T (p.Leu127=)
|
|
|
NM_000203.5(IDUA):c.385+11G>T
|
|
|
NM_000203.5(IDUA):c.385+12G>A
|
|
|
NM_000203.5(IDUA):c.385+15C>T
|
|
|
NM_000203.5(IDUA):c.385+19C>A
|
|
|
NM_000203.5(IDUA):c.385+20C>T
|
|
|
NM_000203.5(IDUA):c.385+7T>A
|
rs1361957376
|
|
NM_000203.5(IDUA):c.385+8G>A
|
rs747655234
|
|
NM_000203.5(IDUA):c.385+9T>C
|
|
|
NM_000203.5(IDUA):c.386-12C>T
|
|
|
NM_000203.5(IDUA):c.386-14C>T
|
|
|
NM_000203.5(IDUA):c.386-19C>T
|
rs889094166
|
|
NM_000203.5(IDUA):c.386-4C>A
|
|
|
NM_000203.5(IDUA):c.386-9G>C
|
rs767145073
|
|
NM_000203.5(IDUA):c.394C>T (p.Leu132=)
|
rs1480225127
|
|
NM_000203.5(IDUA):c.402C>A (p.Gly134=)
|
|
|
NM_000203.5(IDUA):c.408C>G (p.Ala136=)
|
rs138195998
|
|
NM_000203.5(IDUA):c.411G>C (p.Ser137=)
|
|
|
NM_000203.5(IDUA):c.414C>G (p.Gly138=)
|
|
|
NM_000203.5(IDUA):c.441G>A (p.Gln147=)
|
rs2153021713
|
|
NM_000203.5(IDUA):c.450T>C (p.Phe150=)
|
rs1230099124
|
|
NM_000203.5(IDUA):c.459G>A (p.Lys153=)
|
|
|
NM_000203.5(IDUA):c.45C>G (p.Ala15=)
|
|
|
NM_000203.5(IDUA):c.463T>C (p.Leu155=)
|
|
|
NM_000203.5(IDUA):c.468C>G (p.Val156=)
|
rs763532209
|
|
NM_000203.5(IDUA):c.474C>T (p.Ser158=)
|
rs1473137019
|
|
NM_000203.5(IDUA):c.475C>T (p.Leu159=)
|
rs1237146626
|
|
NM_000203.5(IDUA):c.48G>C (p.Ser16=)
|
rs2153015172
|
|
NM_000203.5(IDUA):c.493+10C>A
|
|
|
NM_000203.5(IDUA):c.493+11G>A
|
|
|
NM_000203.5(IDUA):c.493+16C>A
|
|
|
NM_000203.5(IDUA):c.493+17C>T
|
|
|
NM_000203.5(IDUA):c.493+18C>A
|
|
|
NM_000203.5(IDUA):c.493+18C>T
|
|
|
NM_000203.5(IDUA):c.493+20G>T
|
|
|
NM_000203.5(IDUA):c.493+7_493+8delinsAG
|
rs2153021739
|
|
NM_000203.5(IDUA):c.494-11C>G
|
|
|
NM_000203.5(IDUA):c.494-12G>C
|
rs761396518
|
|
NM_000203.5(IDUA):c.494-19C>T
|
|
|
NM_000203.5(IDUA):c.494-4G>C
|
|
|
NM_000203.5(IDUA):c.494-6C>T
|
|
|
NM_000203.5(IDUA):c.505C>T (p.Leu169=)
|
rs756471914
|
|
NM_000203.5(IDUA):c.507G>A (p.Leu169=)
|
|
|
NM_000203.5(IDUA):c.510G>C (p.Ala170=)
|
rs754039388
|
|
NM_000203.5(IDUA):c.510G>T (p.Ala170=)
|
rs754039388
|
|
NM_000203.5(IDUA):c.516T>C (p.Val172=)
|
rs746986558
|
|
NM_000203.5(IDUA):c.52C>T (p.Leu18=)
|
rs2153015176
|
|
NM_000203.5(IDUA):c.531C>T (p.Phe177=)
|
rs769331894
|
|
NM_000203.5(IDUA):c.537G>T (p.Thr179=)
|
rs761106308
|
|
NM_000203.5(IDUA):c.549A>G (p.Pro183=)
|
|
|
NM_000203.5(IDUA):c.54G>A (p.Leu18=)
|
|
|
NM_000203.5(IDUA):c.558C>T (p.His186=)
|
rs1164118339
|
|
NM_000203.5(IDUA):c.567C>T (p.Asp189=)
|
|
|
NM_000203.5(IDUA):c.570C>T (p.Asn190=)
|
|
|
NM_000203.5(IDUA):c.573C>G (p.Val191=)
|
|
|
NM_000203.5(IDUA):c.573C>T (p.Val191=)
|
rs1560546652
|
|
NM_000203.5(IDUA):c.589+17G>A
|
rs2153021928
|
|
NM_000203.5(IDUA):c.589+20G>T
|
|
|
NM_000203.5(IDUA):c.589+7A>C
|
|
|
NM_000203.5(IDUA):c.589+7A>G
|
|
|
NM_000203.5(IDUA):c.589+8C>A
|
|
|
NM_000203.5(IDUA):c.590-11C>A
|
|
|
NM_000203.5(IDUA):c.590-16T>C
|
|
|
NM_000203.5(IDUA):c.590-18A>C
|
rs1201137456
|
|
NM_000203.5(IDUA):c.590-19C>A
|
|
|
NM_000203.5(IDUA):c.590-20G>C
|
|
|
NM_000203.5(IDUA):c.590-4C>A
|
rs369299361
|
|
NM_000203.5(IDUA):c.590-4C>T
|
rs369299361
|
|
NM_000203.5(IDUA):c.590-8C>G
|
rs6848974
|
|
NM_000203.5(IDUA):c.590-9_590-8delinsTT
|
rs2153021960
|
|
NM_000203.5(IDUA):c.595C>T (p.Leu199=)
|
|
|
NM_000203.5(IDUA):c.597G>A (p.Leu199=)
|
rs190934144
|
|
NM_000203.5(IDUA):c.597G>C (p.Leu199=)
|
rs190934144
|
|
NM_000203.5(IDUA):c.597G>T (p.Leu199=)
|
rs190934144
|
|
NM_000203.5(IDUA):c.603C>T (p.Tyr201=)
|
|
|
NM_000203.5(IDUA):c.606C>T (p.Tyr202=)
|
rs1033313360
|
|
NM_000203.5(IDUA):c.612C>G (p.Ala204=)
|
|
|
NM_000203.5(IDUA):c.612C>T (p.Ala204=)
|
rs372948062
|
|
NM_000203.5(IDUA):c.618G>A (p.Ser206=)
|
rs377312287
|
|
NM_000203.5(IDUA):c.618G>C (p.Ser206=)
|
rs377312287
|
|
NM_000203.5(IDUA):c.618G>T (p.Ser206=)
|
rs377312287
|
|
NM_000203.5(IDUA):c.625C>T (p.Leu209=)
|
rs2153021997
|
|
NM_000203.5(IDUA):c.627G>A (p.Leu209=)
|
rs2153021998
|
|
NM_000203.5(IDUA):c.633C>T (p.Ala211=)
|
|
|
NM_000203.5(IDUA):c.639C>T (p.Ser213=)
|
rs1383674405
|
|
NM_000203.5(IDUA):c.63C>A (p.Pro21=)
|
rs2153015191
|
|
NM_000203.5(IDUA):c.642C>T (p.Pro214=)
|
|
|
NM_000203.5(IDUA):c.649C>A (p.Arg217=)
|
rs1178237301
|
|
NM_000203.5(IDUA):c.651G>A (p.Arg217=)
|
|
|
NM_000203.5(IDUA):c.654G>A (p.Leu218=)
|
|
|
NM_000203.5(IDUA):c.660C>A (p.Gly220=)
|
|
|
NM_000203.5(IDUA):c.663C>T (p.Pro221=)
|
rs368553582
|
|
NM_000203.5(IDUA):c.666C>G (p.Gly222=)
|
|
|
NM_000203.5(IDUA):c.675C>T (p.Phe225=)
|
rs767436466
|
|
NM_000203.5(IDUA):c.678C>T (p.His226=)
|
rs2153022041
|
|
NM_000203.5(IDUA):c.681C>G (p.Thr227=)
|
|
|
NM_000203.5(IDUA):c.687G>A (p.Pro229=)
|
rs1488689927
|
|
NM_000203.5(IDUA):c.687G>T (p.Pro229=)
|
rs1488689927
|
|
NM_000203.5(IDUA):c.693C>A (p.Ser231=)
|
rs529773032
|
|
NM_000203.5(IDUA):c.693C>G (p.Ser231=)
|
|
|
NM_000203.5(IDUA):c.696G>A (p.Pro232=)
|
rs1715094235
|
|
NM_000203.5(IDUA):c.6T>C (p.Arg2=)
|
|
|
NM_000203.5(IDUA):c.702C>T (p.Ser234=)
|
|
|
NM_000203.5(IDUA):c.712C>T (p.Leu238=)
|
|
|
NM_000203.5(IDUA):c.714G>T (p.Leu238=)
|
rs1295602141
|
|
NM_000203.5(IDUA):c.72C>G (p.Ala24=)
|
|
|
NM_000203.5(IDUA):c.735C>T (p.Thr245=)
|
|
|
NM_000203.5(IDUA):c.747T>C (p.Thr249=)
|
|
|
NM_000203.5(IDUA):c.750G>C (p.Gly250=)
|
|
|
NM_000203.5(IDUA):c.753G>A (p.Glu251=)
|
rs1471525812
|
|
NM_000203.5(IDUA):c.774C>T (p.Tyr258=)
|
|
|
NM_000203.5(IDUA):c.777C>T (p.Ile259=)
|
|
|
NM_000203.5(IDUA):c.78C>G (p.Ala26=)
|
|
|
NM_000203.5(IDUA):c.78C>T (p.Ala26=)
|
|
|
NM_000203.5(IDUA):c.792+10G>A
|
rs1013190604
|
|
NM_000203.5(IDUA):c.792+13C>T
|
|
|
NM_000203.5(IDUA):c.792+14C>T
|
|
|
NM_000203.5(IDUA):c.792+16C>A
|
|
|
NM_000203.5(IDUA):c.792+17C>A
|
|
|
NM_000203.5(IDUA):c.792+18G>A
|
|
|
NM_000203.5(IDUA):c.792+18G>C
|
rs1413309758
|
|
NM_000203.5(IDUA):c.792+20C>T
|
|
|
NM_000203.5(IDUA):c.792+9T>G
|
|
|
NM_000203.5(IDUA):c.793-13G>A
|
rs2153022144
|
|
NM_000203.5(IDUA):c.793-7C>T
|
|
|
NM_000203.5(IDUA):c.793-9C>T
|
rs375798875
|
|
NM_000203.5(IDUA):c.798G>A (p.Ala266=)
|
rs2153022159
|
|
NM_000203.5(IDUA):c.798G>T (p.Ala266=)
|
rs2153022159
|
|
NM_000203.5(IDUA):c.801C>A (p.Arg267=)
|
rs751167219
|
|
NM_000203.5(IDUA):c.804C>T (p.Ser268=)
|
rs1353776736
|
|
NM_000203.5(IDUA):c.816C>T (p.Ile272=)
|
rs1379813895
|
|
NM_000203.5(IDUA):c.817C>T (p.Leu273=)
|
rs2153022167
|
|
NM_000203.5(IDUA):c.834C>A (p.Val278=)
|
rs1308432668
|
|
NM_000203.5(IDUA):c.837C>A (p.Val279=)
|
rs758749484
|
|
NM_000203.5(IDUA):c.837C>T (p.Val279=)
|
rs758749484
|
|
NM_000203.5(IDUA):c.840G>C (p.Ala280=)
|
rs2153022177
|
|
NM_000203.5(IDUA):c.846G>A (p.Gln282=)
|
rs747168143
|
|
NM_000203.5(IDUA):c.849C>T (p.Ile283=)
|
|
|
NM_000203.5(IDUA):c.850C>A (p.Arg284=)
|
rs1426919426
|
|
NM_000203.5(IDUA):c.852G>A (p.Arg284=)
|
|
|
NM_000203.5(IDUA):c.852G>C (p.Arg284=)
|
rs2153022186
|
|
NM_000203.5(IDUA):c.855G>A (p.Gln285=)
|
rs781622799
|
|
NM_000203.5(IDUA):c.858C>T (p.Leu286=)
|
rs1577540331
|
|
NM_000203.5(IDUA):c.861C>T (p.Phe287=)
|
rs1715117035
|
|
NM_000203.5(IDUA):c.864C>T (p.Pro288=)
|
rs1440415618
|
|
NM_000203.5(IDUA):c.870C>T (p.Phe290=)
|
|
|
NM_000203.5(IDUA):c.879C>A (p.Thr293=)
|
rs1472617552
|
|
NM_000203.5(IDUA):c.879C>G (p.Thr293=)
|
|
|
NM_000203.5(IDUA):c.888C>T (p.Tyr296=)
|
rs1463865220
|
|
NM_000203.5(IDUA):c.900G>A (p.Ala300=)
|
rs1715120552
|
|
NM_000203.5(IDUA):c.900G>T (p.Ala300=)
|
|
|
NM_000203.5(IDUA):c.915C>A (p.Gly305=)
|
|
|
NM_000203.5(IDUA):c.915C>G (p.Gly305=)
|
rs1245130094
|
|
NM_000203.5(IDUA):c.927A>G (p.Pro309=)
|
|
|
NM_000203.5(IDUA):c.927A>T (p.Pro309=)
|
|
|
NM_000203.5(IDUA):c.93G>A (p.Leu31=)
|
rs2153015210
|
|
NM_000203.5(IDUA):c.942G>A (p.Ala314=)
|
rs6830825
|
|
NM_000203.5(IDUA):c.948G>C (p.Val316=)
|
rs1463496008
|
|
NM_000203.5(IDUA):c.951C>G (p.Thr317=)
|
|
|
NM_000203.5(IDUA):c.951C>T (p.Thr317=)
|
rs1577540556
|
|
NM_000203.5(IDUA):c.954C>T (p.Tyr318=)
|
rs1400939830
|
|
NM_000203.5(IDUA):c.96G>T (p.Val32=)
|
rs991986320
|
|
NM_000203.5(IDUA):c.972+10C>A
|
|
|
NM_000203.5(IDUA):c.972+10C>T
|
|
|
NM_000203.5(IDUA):c.972+11C>T
|
|
|
NM_000203.5(IDUA):c.972+12C>T
|
|
|
NM_000203.5(IDUA):c.972+12_972+20del
|
|
|
NM_000203.5(IDUA):c.972+18C>T
|
|
|
NM_000203.5(IDUA):c.972+7C>A
|
rs2153022267
|
|
NM_000203.5(IDUA):c.972+7C>G
|
|
|
NM_000203.5(IDUA):c.972+7C>T
|
|
|
NM_000203.5(IDUA):c.972+9G>A
|
|
|
NM_000203.5(IDUA):c.973-11G>T
|
rs1383531589
|
|
NM_000203.5(IDUA):c.973-14C>G
|
|
|
NM_000203.5(IDUA):c.973-15C>T
|
|
|
NM_000203.5(IDUA):c.973-17G>A
|
|
|
NM_000203.5(IDUA):c.973-5C>T
|
|
|
NM_000203.5(IDUA):c.975C>A (p.Val325=)
|
rs2153022311
|
|
NM_000203.5(IDUA):c.981G>C (p.Ala327=)
|
|
|
NM_000203.5(IDUA):c.996G>A (p.Leu332=)
|
|
|
NM_000203.5(IDUA):c.996G>C (p.Leu332=)
|
rs1052930401
|
|
NM_000203.5(IDUA):c.9C>T (p.Pro3=)
|
|
|