ClinVar Miner

List of variants reported as likely benign for Mucopolysaccharidosis type 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 767
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HGVS dbSNP gnomAD frequency
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=)

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