ClinVar Miner

List of variants in gene IDUA studied for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1239
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HGVS dbSNP gnomAD frequency
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.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.709C>T (p.Leu237Phe) rs74385837 0.00475
NM_000203.5(IDUA):c.1190-17_1190-16insA rs201559436 0.00401
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.965T>A (p.Val322Glu) rs76722191 0.00271
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.1190-19G>C rs1285206431 0.00085
NM_000203.5(IDUA):c.408C>T (p.Ala136=) rs138195998 0.00081
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605 0.00080
NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr) rs140564189 0.00057
NM_000203.5(IDUA):c.493+7G>A rs200509712 0.00052
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp) rs150763745 0.00043
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) rs781136336 0.00035
NM_000203.5(IDUA):c.666C>T (p.Gly222=) rs200411359 0.00029
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.386-8T>C rs199652725 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.1863A>C (p.Arg621=) rs762586 0.00016
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys) rs200237798 0.00016
NM_000203.5(IDUA):c.663C>G (p.Pro221=) rs368553582 0.00016
NM_000203.5(IDUA):c.406G>A (p.Ala136Thr) rs112571714 0.00015
NM_000203.5(IDUA):c.300-20C>T rs374050415 0.00014
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly) rs121965025 0.00013
NM_000203.5(IDUA):c.1343C>A (p.Ala448Asp) rs565375837 0.00011
NM_000203.5(IDUA):c.1781C>T (p.Pro594Leu) rs143621769 0.00011
NM_000203.5(IDUA):c.1402+8G>A rs1315308939 0.00010
NM_000203.5(IDUA):c.1727+4C>T rs1202966289 0.00010
NM_000203.5(IDUA):c.932C>T (p.Pro311Leu) rs377684568 0.00010
NM_000203.5(IDUA):c.405C>T (p.Ser135=) rs201326626 0.00009
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.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.1190-16C>T rs1189052495 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.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.923T>C (p.Leu308Pro) rs752337969 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.682C>T (p.Pro228Ser) rs775641597 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.1046A>G (p.Asp349Gly) rs371397270 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.1403-1G>T rs4690223 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.1632C>G (p.Pro544=) rs760288223 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.1911G>A (p.Pro637=) rs780005721 0.00004
NM_000203.5(IDUA):c.340C>A (p.Leu114Met) rs372934646 0.00004
NM_000203.5(IDUA):c.385+19C>T rs746426487 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.589+8C>T rs371219112 0.00004
NM_000203.5(IDUA):c.711C>T (p.Leu237=) rs528650871 0.00004
NM_000203.5(IDUA):c.793-1G>A rs762779421 0.00004
NM_000203.5(IDUA):c.812C>T (p.Ser271Phe) rs766950553 0.00004
NM_000203.5(IDUA):c.957G>C (p.Ala319=) rs748350723 0.00004
NM_000203.5(IDUA):c.1189+7C>T rs200516322 0.00003
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr) rs752725918 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.1487C>T (p.Pro496Leu) rs772416503 0.00003
NM_000203.5(IDUA):c.1525-6G>A rs1560549741 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.1734G>C (p.Leu578=) rs769042694 0.00003
NM_000203.5(IDUA):c.1772C>T (p.Ala591Val) rs138826105 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.793G>C (p.Gly265Arg) rs369090960 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.1195G>A (p.Glu399Lys) rs1034769935 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.1251G>A (p.Thr417=) rs1053501201 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.1570C>T (p.Leu524=) rs1022872293 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.1743C>G (p.Tyr581Ter) rs776787370 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.1828+5G>A rs565649151 0.00002
NM_000203.5(IDUA):c.1829-1G>A rs745915863 0.00002
NM_000203.5(IDUA):c.1872C>T (p.Asp624=) rs965431982 0.00002
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter) rs756572099 0.00002
NM_000203.5(IDUA):c.1941C>G (p.Pro647=) rs764473896 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.713T>A (p.Leu238Gln) rs148789453 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.946G>A (p.Val316Met) rs755445369 0.00002
NM_000203.5(IDUA):c.1032G>A (p.Ala344=) rs959994477 0.00001
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) rs368454909 0.00001
NM_000203.5(IDUA):c.1050T>C (p.Asn350=) rs769373163 0.00001
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.1070C>T (p.Pro357Leu) rs918621189 0.00001
NM_000203.5(IDUA):c.1074C>T (p.His358=) rs1171720920 0.00001
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys) rs750496798 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.1128G>A (p.Pro376=) rs768841506 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.1152G>A (p.Lys384=) rs1244370377 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.1169T>C (p.Met390Thr) rs1157083700 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.1190-2A>T rs994902207 0.00001
NM_000203.5(IDUA):c.1190-7C>T rs1715175188 0.00001
NM_000203.5(IDUA):c.1198C>T (p.Gln400Ter) rs1354690186 0.00001
NM_000203.5(IDUA):c.1208C>T (p.Ala403Val) rs1253435204 0.00001
NM_000203.5(IDUA):c.1209C>G (p.Ala403=) rs990733414 0.00001
NM_000203.5(IDUA):c.1226G>A (p.Gly409Glu) rs1465083754 0.00001
NM_000203.5(IDUA):c.1260C>T (p.Val420=) rs1715182456 0.00001
NM_000203.5(IDUA):c.1264G>C (p.Ala422Pro) rs1392555572 0.00001
NM_000203.5(IDUA):c.1289C>T (p.Pro430Leu) rs1197582697 0.00001
NM_000203.5(IDUA):c.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.1398C>T (p.Gly466=) rs1370338557 0.00001
NM_000203.5(IDUA):c.1402+1G>T rs398123254 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.1422_1423dup (p.Tyr475fs) rs761793564 0.00001
NM_000203.5(IDUA):c.1452C>A (p.Asp484Glu) rs4690224 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.1524+1G>A rs1553917483 0.00001
NM_000203.5(IDUA):c.1525-15G>A rs755037135 0.00001
NM_000203.5(IDUA):c.1525-7C>A rs184807155 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.1617C>T (p.His539=) rs774854847 0.00001
NM_000203.5(IDUA):c.1646G>T (p.Gly549Val) rs1171379194 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.1651G>C (p.Val551Leu) rs778877259 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.1716C>G (p.His572Gln) rs1253075699 0.00001
NM_000203.5(IDUA):c.1717G>T (p.Val573Leu) rs146588560 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.1728-1G>C rs1249951282 0.00001
NM_000203.5(IDUA):c.1744G>A (p.Glu582Lys) rs762037549 0.00001
NM_000203.5(IDUA):c.1755C>T (p.Phe585=) rs1457677853 0.00001
NM_000203.5(IDUA):c.1771G>A (p.Ala591Thr) rs398123257 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.1802C>T (p.Thr601Ile) rs200089576 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.1828+1G>C rs919151683 0.00001
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro) rs200448421 0.00001
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) rs886043347 0.00001
NM_000203.5(IDUA):c.1929G>A (p.Val643=) rs147163995 0.00001
NM_000203.5(IDUA):c.1949C>T (p.Pro650Leu) rs751132616 0.00001
NM_000203.5(IDUA):c.1957C>T (p.Pro653Ser) rs970991915 0.00001
NM_000203.5(IDUA):c.300-5T>C rs760649049 0.00001
NM_000203.5(IDUA):c.300G>T (p.Arg100Ser) rs1340970137 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.386-2A>G rs777295041 0.00001
NM_000203.5(IDUA):c.386-7G>A rs1047377009 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.497G>C (p.Arg166Thr) rs762623046 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.535A>G (p.Thr179Ala) rs766030255 0.00001
NM_000203.5(IDUA):c.539G>C (p.Trp180Ser) rs1044231895 0.00001
NM_000203.5(IDUA):c.557A>G (p.His186Arg) rs758439259 0.00001
NM_000203.5(IDUA):c.571G>C (p.Val191Leu) rs746908649 0.00001
NM_000203.5(IDUA):c.589+1G>A rs1293215555 0.00001
NM_000203.5(IDUA):c.590-10C>T rs1193288754 0.00001
NM_000203.5(IDUA):c.600C>G (p.Asn200Lys) rs763375487 0.00001
NM_000203.5(IDUA):c.609T>C (p.Asp203=) rs1577539347 0.00001
NM_000203.5(IDUA):c.617C>T (p.Ser206Leu) rs756131787 0.00001
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp) rs1430681871 0.00001
NM_000203.5(IDUA):c.648G>A (p.Leu216=) rs1289155564 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.672C>T (p.Ser224=) rs1355304778 0.00001
NM_000203.5(IDUA):c.692C>T (p.Ser231Phe) rs933301757 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.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.770A>G (p.Asp257Gly) rs1001962975 0.00001
NM_000203.5(IDUA):c.784C>T (p.His262Tyr) rs375305122 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.814A>C (p.Ile272Leu) rs536381533 0.00001
NM_000203.5(IDUA):c.822G>A (p.Glu274=) rs1160519179 0.00001
NM_000203.5(IDUA):c.850C>T (p.Arg284Trp) rs1426919426 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.973-4G>A rs745832717 0.00001
NC_000004.11:g.(?_994390)_(998355_?)del
NC_000004.11:g.(?_996510)_(998355_?)del
NM_000203.3(IDUA):c.[1225G>C;1962A>T]
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly) rs387906504
NM_000203.5(IDUA):c.*100A>G rs1049376214
NM_000203.5(IDUA):c.1007A>C (p.Asn336Thr)
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.1014_1015insATGGCCGCGTAGG (p.Ser339delinsMetAlaAlaTer)
NM_000203.5(IDUA):c.1016C>T (p.Ser339Phe)
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.1023_1026del (p.Pro342fs)
NM_000203.5(IDUA):c.1026C>A (p.Pro342=)
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1029C>T (p.Tyr343=) rs764196171
NM_000203.5(IDUA):c.1030G>C (p.Ala344Pro) rs754095810
NM_000203.5(IDUA):c.1032G>C (p.Ala344=)
NM_000203.5(IDUA):c.1032G>T (p.Ala344=)
NM_000203.5(IDUA):c.1033C>T (p.Leu345Phe)
NM_000203.5(IDUA):c.1035C>T (p.Leu345=)
NM_000203.5(IDUA):c.1036del (p.Leu345_Leu346insTer) rs2153022341
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) rs121965033
NM_000203.5(IDUA):c.1038G>C (p.Leu346=) rs758334375
NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg) rs2153022349
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr) rs780106243
NM_000203.5(IDUA):c.1041C>T (p.Ser347=) rs2153022353
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.1044C>T (p.Asn348=) rs746766617
NM_000203.5(IDUA):c.1045G>C (p.Asp349His)
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr) rs368454909
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del) rs1230096882
NM_000203.5(IDUA):c.1047dup (p.Asn350fs) rs2153022358
NM_000203.5(IDUA):c.1048A>G (p.Asn350Asp)
NM_000203.5(IDUA):c.1049A>G (p.Asn350Ser) rs1577541140
NM_000203.5(IDUA):c.1052C>T (p.Ala351Val) rs1715142270
NM_000203.5(IDUA):c.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.1073_1093del (p.His358_Thr364del) rs1214495121
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.1077del (p.Phe360fs) rs2153022377
NM_000203.5(IDUA):c.1080C>T (p.Phe360=)
NM_000203.5(IDUA):c.1083G>A (p.Ala361=) rs1553917295
NM_000203.5(IDUA):c.1087C>A (p.Arg363Ser)
NM_000203.5(IDUA):c.1088_1089dup (p.Thr364fs) rs2153022390
NM_000203.5(IDUA):c.1090A>G (p.Thr364Ala) rs1216054018
NM_000203.5(IDUA):c.1091C>A (p.Thr364Lys)
NM_000203.5(IDUA):c.1091C>G (p.Thr364Arg)
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1096A>C (p.Thr366Pro) rs121965024
NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs) rs2153022399
NM_000203.5(IDUA):c.1099G>C (p.Ala367Pro)
NM_000203.5(IDUA):c.1099_1100delinsTT (p.Ala367Leu)
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.1105T>C (p.Phe369Leu) rs1715147247
NM_000203.5(IDUA):c.1108C>T (p.Gln370Ter) rs2153022415
NM_000203.5(IDUA):c.1109A>G (p.Gln370Arg)
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.1115A>G (p.Asn372Ser) rs1553917304
NM_000203.5(IDUA):c.1115ACA[1] (p.Asn373del) rs1715148258
NM_000203.5(IDUA):c.1118_1130del (p.Asn373fs)
NM_000203.5(IDUA):c.1122C>T (p.Thr374=)
NM_000203.5(IDUA):c.1123C>T (p.Arg375Cys)
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.1137_1138dup (p.Gln380fs)
NM_000203.5(IDUA):c.1140G>T (p.Gln380His)
NM_000203.5(IDUA):c.1141C>T (p.Leu381=)
NM_000203.5(IDUA):c.1145T>A (p.Leu382Ter)
NM_000203.5(IDUA):c.1147C>T (p.Arg383Cys)
NM_000203.5(IDUA):c.1149C>G (p.Arg383=)
NM_000203.5(IDUA):c.1149C>T (p.Arg383=) rs767632084
NM_000203.5(IDUA):c.1152G>C (p.Lys384Asn) rs1244370377
NM_000203.5(IDUA):c.1153C>T (p.Pro385Ser)
NM_000203.5(IDUA):c.1160T>C (p.Leu387Pro) rs1553917310
NM_000203.5(IDUA):c.1161C>T (p.Leu387=) rs1553917312
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met) rs794727896
NM_000203.5(IDUA):c.1163del (p.Thr388fs) rs1577541504
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.1167del (p.Met390fs) rs2153022443
NM_000203.5(IDUA):c.1173G>T (p.Gly391=)
NM_000203.5(IDUA):c.1182G>C (p.Ala394=)
NM_000203.5(IDUA):c.1183CTG[1] (p.Leu396del)
NM_000203.5(IDUA):c.1188G>A (p.Leu396=) rs747406598
NM_000203.5(IDUA):c.1189+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+5G>A rs1553917318
NM_000203.5(IDUA):c.1189+8G>A
NM_000203.5(IDUA):c.1190-10C>A rs1443642527
NM_000203.5(IDUA):c.1190-10C>G rs1443642527
NM_000203.5(IDUA):c.1190-10_*10del
NM_000203.5(IDUA):c.1190-10del rs150523349
NM_000203.5(IDUA):c.1190-10dup rs150523349
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_1190-10dup rs150523349
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.1190-1del
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.1192GAG[1] (p.Glu399del)
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter) rs991612107
NM_000203.5(IDUA):c.1207G>A (p.Ala403Thr) rs1715176840
NM_000203.5(IDUA):c.1209C>T (p.Ala403=) rs990733414
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter) rs1340421020
NM_000203.5(IDUA):c.1213G>A (p.Val405Met)
NM_000203.5(IDUA):c.1214T>G (p.Val405Gly)
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.1219C>T (p.Gln407Ter) rs1715178056
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.1227dup (p.Thr410fs) rs1715179164
NM_000203.5(IDUA):c.1228A>C (p.Thr410Pro)
NM_000203.5(IDUA):c.1230C>A (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1230C>T (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1230_1257delinsG (p.Asp413_Leu421del) rs1553917376
NM_000203.5(IDUA):c.1236G>C (p.Leu412=) rs2153022592
NM_000203.5(IDUA):c.1238_1264del (p.Asp413_Leu421del) rs1168660379
NM_000203.5(IDUA):c.1244A>G (p.Asn415Ser)
NM_000203.5(IDUA):c.1249_1275del (p.Thr417_His425del) rs1450080299
NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys) rs1464048268
NM_000203.5(IDUA):c.1251G>C (p.Thr417=)
NM_000203.5(IDUA):c.1257C>G (p.Gly419=) rs1256676778
NM_000203.5(IDUA):c.1258G>T (p.Val420Phe)
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg) rs931627770
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.1276_1282dup (p.Gln428fs) rs1445719596
NM_000203.5(IDUA):c.1278C>A (p.Arg426=)
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.1282C>T (p.Gln428Ter)
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.1303C>G (p.Arg435Gly) rs1188900288
NM_000203.5(IDUA):c.1303C>T (p.Arg435Cys)
NM_000203.5(IDUA):c.1305C>A (p.Arg435=) rs1577542420
NM_000203.5(IDUA):c.1306del (p.Ala436fs)
NM_000203.5(IDUA):c.1309G>C (p.Ala437Pro)
NM_000203.5(IDUA):c.1323C>A (p.Tyr441Ter)
NM_000203.5(IDUA):c.1323C>G (p.Tyr441Ter)
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.1326_1330dup (p.Asp444fs)
NM_000203.5(IDUA):c.1329C>T (p.Ser443=)
NM_000203.5(IDUA):c.1330G>A (p.Asp444Asn)
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del) rs1715188461
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.1338C>G (p.Thr446=) rs2153022644
NM_000203.5(IDUA):c.1338C>T (p.Thr446=)
NM_000203.5(IDUA):c.1340G>A (p.Arg447His)
NM_000203.5(IDUA):c.1344C>G (p.Ala448=)
NM_000203.5(IDUA):c.1349C>G (p.Pro450Arg) rs895626490
NM_000203.5(IDUA):c.1358G>A (p.Ser453Asn) rs2153022656
NM_000203.5(IDUA):c.1359C>T (p.Ser453=)
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.1366_1389del (p.Val456_Val463del) rs1553917418
NM_000203.5(IDUA):c.1367T>G (p.Val456Gly) rs1715192601
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.1375C>T (p.Arg459Trp) rs2153022668
NM_000203.5(IDUA):c.1376G>T (p.Arg459Leu) rs1715193201
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.1387G>C (p.Val463Leu)
NM_000203.5(IDUA):c.1390C>G (p.Pro464Ala) rs888528622
NM_000203.5(IDUA):c.1391C>T (p.Pro464Leu)
NM_000203.5(IDUA):c.1395del (p.Gly466fs) rs1386109118
NM_000203.5(IDUA):c.1395dup (p.Gly466fs) rs1386109118
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+1G>A rs398123254
NM_000203.5(IDUA):c.1402+20A>C
NM_000203.5(IDUA):c.1402+2T>G rs1553917428
NM_000203.5(IDUA):c.1402+5G>A
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.1403-1G>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.1424_1426del (p.Tyr475del) rs1553917455
NM_000203.5(IDUA):c.1435G>A (p.Gly479Arg)
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.1447C>A (p.Pro483Thr)
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.1456G>T (p.Glu486Ter) rs1356329915
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu) rs1715210316
NM_000203.5(IDUA):c.1461G>A (p.Trp487Ter) rs1715210435
NM_000203.5(IDUA):c.1462C>A (p.Arg488=) rs868460406
NM_000203.5(IDUA):c.1466G>C (p.Arg489Pro) rs1416328981
NM_000203.5(IDUA):c.1467C>G (p.Arg489=) rs115929690
NM_000203.5(IDUA):c.1468C>T (p.Leu490=)
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.1470G>A (p.Leu490=) rs1715211623
NM_000203.5(IDUA):c.1474C>T (p.Arg492Trp) rs778314567
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro) rs121965026
NM_000203.5(IDUA):c.1475G>T (p.Arg492Leu)
NM_000203.5(IDUA):c.1476G>C (p.Arg492=) rs2153022780
NM_000203.5(IDUA):c.1477C>A (p.Pro493Thr) rs894585162
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg) rs375819348
NM_000203.5(IDUA):c.1478C>T (p.Pro493Leu)
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.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.1485C>T (p.Phe495=) rs746018077
NM_000203.5(IDUA):c.1488C>T (p.Pro496=) rs780479570
NM_000203.5(IDUA):c.1489A>G (p.Thr497Ala)
NM_000203.5(IDUA):c.1491G>A (p.Thr497=) rs374102243
NM_000203.5(IDUA):c.1491G>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.1496_1497del (p.Glu499fs) rs2153022799
NM_000203.5(IDUA):c.1497G>A (p.Glu499=)
NM_000203.5(IDUA):c.1498C>G (p.Gln500Glu)
NM_000203.5(IDUA):c.1498C>T (p.Gln500Ter) rs1290558249
NM_000203.5(IDUA):c.1503C>A (p.Phe501Leu)
NM_000203.5(IDUA):c.1504C>T (p.Arg502Trp)
NM_000203.5(IDUA):c.1505G>A (p.Arg502Gln) rs769566506
NM_000203.5(IDUA):c.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.1513C>G (p.Arg505Gly) rs1715218377
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+1G>T rs1553917483
NM_000203.5(IDUA):c.1524+20G>C
NM_000203.5(IDUA):c.1525-11_1536del rs1715233169
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.1525-1G>A
NM_000203.5(IDUA):c.1525-20G>A
NM_000203.5(IDUA):c.1525-2A>C rs2153022881
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.1529dup (p.Val511fs)
NM_000203.5(IDUA):c.1530G>A (p.Pro510=)
NM_000203.5(IDUA):c.1530G>T (p.Pro510=)
NM_000203.5(IDUA):c.1537_1538delinsTT (p.Ala513Leu)
NM_000203.5(IDUA):c.1539G>C (p.Ala513=) rs1715236417
NM_000203.5(IDUA):c.1539G>T (p.Ala513=)
NM_000203.5(IDUA):c.1543C>T (p.Pro515Ser)
NM_000203.5(IDUA):c.1546dup (p.Arg516fs) rs2153022895
NM_000203.5(IDUA):c.1547G>A (p.Arg516His)
NM_000203.5(IDUA):c.1550C>G (p.Pro517Arg)
NM_000203.5(IDUA):c.1550C>T (p.Pro517Leu) rs1051249739
NM_000203.5(IDUA):c.1551C>G (p.Pro517=) rs892707514
NM_000203.5(IDUA):c.1551del (p.Leu518fs)
NM_000203.5(IDUA):c.1558G>C (p.Ala520Pro)
NM_000203.5(IDUA):c.1560C>G (p.Ala520=)
NM_000203.5(IDUA):c.1560C>T (p.Ala520=)
NM_000203.5(IDUA):c.1561G>A (p.Gly521Ser)
NM_000203.5(IDUA):c.1561_1570del (p.Ala520_Gly521insTer) rs1715237631
NM_000203.5(IDUA):c.1563C>G (p.Gly521=)
NM_000203.5(IDUA):c.1568G>T (p.Arg523Leu)
NM_000203.5(IDUA):c.1576C>T (p.Leu526=)
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.1587_1588dup (p.Leu530fs)
NM_000203.5(IDUA):c.1588C>A (p.Leu530Met) rs749053703
NM_000203.5(IDUA):c.1588C>T (p.Leu530=) rs749053703
NM_000203.5(IDUA):c.1591C>A (p.Arg531=)
NM_000203.5(IDUA):c.1591del (p.Arg531fs) rs1553917558
NM_000203.5(IDUA):c.1592G>A (p.Arg531Gln)
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.1597C>A (p.Pro533Thr) rs374779600
NM_000203.5(IDUA):c.1597C>T (p.Pro533Ser)
NM_000203.5(IDUA):c.1598C>A (p.Pro533Gln)
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000203.5(IDUA):c.1599G>T (p.Pro533=)
NM_000203.5(IDUA):c.1602del (p.Leu535fs) rs1553917566
NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe) rs1577543849
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>A (p.Cys541Ter) rs2153022938
NM_000203.5(IDUA):c.1623T>C (p.Cys541=)
NM_000203.5(IDUA):c.1627C>A (p.Arg543Ser)
NM_000203.5(IDUA):c.1628G>A (p.Arg543His)
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.1644del (p.Gln550fs)
NM_000203.5(IDUA):c.1646_1647del (p.Gly549fs)
NM_000203.5(IDUA):c.1647G>A (p.Gly549=) rs2153022957
NM_000203.5(IDUA):c.1647G>C (p.Gly549=)
NM_000203.5(IDUA):c.1648C>T (p.Gln550Ter) rs2153022958
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+1G>A rs1434521185
NM_000203.5(IDUA):c.1650+2C>G rs1553917580
NM_000203.5(IDUA):c.1650+5G>A rs398123256
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.1651-2A>G rs2153022990
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.1652T>A (p.Val551Asp)
NM_000203.5(IDUA):c.1658G>T (p.Arg553Leu)
NM_000203.5(IDUA):c.1662C>A (p.Leu554=) rs1051037909
NM_000203.5(IDUA):c.1664G>A (p.Arg555His)
NM_000203.5(IDUA):c.1666G>A (p.Ala556Thr)
NM_000203.5(IDUA):c.1666G>C (p.Ala556Pro) rs771540729
NM_000203.5(IDUA):c.1669C>T (p.Leu557=)
NM_000203.5(IDUA):c.1670T>A (p.Leu557Gln) rs2153023010
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.1679C>A (p.Thr560Asn) rs773249605
NM_000203.5(IDUA):c.1679C>T (p.Thr560Ile)
NM_000203.5(IDUA):c.1681C>T (p.Gln561Ter) rs752800292
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.1694T>C (p.Val565Ala)
NM_000203.5(IDUA):c.1695T>C (p.Val565=) rs1577544372
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs) rs1220371654
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.1708G>C (p.Asp570His) rs1553917627
NM_000203.5(IDUA):c.1709A>G (p.Asp570Gly)
NM_000203.5(IDUA):c.1709A>T (p.Asp570Val)
NM_000203.5(IDUA):c.1713del (p.Glu571fs)
NM_000203.5(IDUA):c.1722C>T (p.Gly574=) rs1307428521
NM_000203.5(IDUA):c.1723_1727+4del
NM_000203.5(IDUA):c.1724C>T (p.Ser575Phe)
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+1G>A rs1577544451
NM_000203.5(IDUA):c.1727+21del
NM_000203.5(IDUA):c.1727+6T>A
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.1728-1G>A rs1249951282
NM_000203.5(IDUA):c.1728-2A>G rs1553917699
NM_000203.5(IDUA):c.1728-3C>G
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.1737G>A (p.Trp579Ter)
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.1750C>T (p.Gln584Ter) rs1715290919
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.1765G>T (p.Gly589Cys) rs144941693
NM_000203.5(IDUA):c.1766del (p.Gly589fs) rs1715293163
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.1784T>G (p.Val595Gly)
NM_000203.5(IDUA):c.1799C>A (p.Ser600Ter) rs867456178
NM_000203.5(IDUA):c.1799C>G (p.Ser600Trp)
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) rs398123258
NM_000203.5(IDUA):c.1809C>T (p.Asn603=) rs2153023208
NM_000203.5(IDUA):c.1812C>G (p.Leu604=)
NM_000203.5(IDUA):c.1815dup (p.Val606fs) rs2153023210
NM_000203.5(IDUA):c.1818G>A (p.Val606=) rs1439543893
NM_000203.5(IDUA):c.1827_1828+4delinsTGTGT
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+4C>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.1829-1G>C
NM_000203.5(IDUA):c.1829-2A>G rs1553917733
NM_000203.5(IDUA):c.1829-3C>T
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.1832_1833del (p.Thr611fs) rs1553917735
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.1845_1846del (p.Gly616fs) rs1553917737
NM_000203.5(IDUA):c.1848C>T (p.Gly616=) rs2153023273
NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter) rs746936485
NM_000203.5(IDUA):c.1854C>T (p.Tyr618=)
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly) rs121965031
NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln) rs372137794
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe) rs2153023278
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.1862G>A (p.Arg621Gln)
NM_000203.5(IDUA):c.1862G>C (p.Arg621Pro) rs762399936
NM_000203.5(IDUA):c.1866C>T (p.Ala622=)
NM_000203.5(IDUA):c.1867C>T (p.Leu623=)
NM_000203.5(IDUA):c.1867del (p.Leu623fs) rs1553917747
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro) rs2153023287
NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs) rs1553917746
NM_000203.5(IDUA):c.1873T>C (p.Tyr625His) rs1715312209
NM_000203.5(IDUA):c.1874A>C (p.Tyr625Ser)
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) rs587779401
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter) rs1456090810
NM_000203.5(IDUA):c.1881C>T (p.Ala627=)
NM_000203.5(IDUA):c.1882C>A (p.Arg628=)
NM_000203.5(IDUA):c.1882del (p.Arg628fs)
NM_000203.5(IDUA):c.1884A>C (p.Arg628=)
NM_000203.5(IDUA):c.1888G>A (p.Gly630Ser) rs1553917753
NM_000203.5(IDUA):c.1889G>A (p.Gly630Asp) rs2153023301
NM_000203.5(IDUA):c.1893del (p.Phe632fs) rs1553917754
NM_000203.5(IDUA):c.1894T>A (p.Phe632Ile) rs2153023304
NM_000203.5(IDUA):c.1896C>T (p.Phe632=)
NM_000203.5(IDUA):c.1897del (p.Ser633fs) rs1553917756
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter) rs886043347
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs) rs1715314710
NM_000203.5(IDUA):c.1910C>G (p.Pro637Arg)
NM_000203.5(IDUA):c.1914C>G (p.Tyr638Ter) rs768467230
NM_000203.5(IDUA):c.1914C>T (p.Tyr638=) rs768467230
NM_000203.5(IDUA):c.1915C>T (p.Leu639=)
NM_000203.5(IDUA):c.1918G>T (p.Glu640Ter) rs1553917764
NM_000203.5(IDUA):c.1923C>G (p.Val641=) rs2153023320
NM_000203.5(IDUA):c.1923C>T (p.Val641=)
NM_000203.5(IDUA):c.1928T>C (p.Val643Ala)
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.1938_1947dup (p.Pro650fs)
NM_000203.5(IDUA):c.1938del (p.Pro648fs)
NM_000203.5(IDUA):c.1942C>T (p.Pro648Ser)
NM_000203.5(IDUA):c.1946C>T (p.Ser649Phe)
NM_000203.5(IDUA):c.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.1952G>A (p.Gly651Asp) rs750609855
NM_000203.5(IDUA):c.1953C>G (p.Gly651=) rs2153023339
NM_000203.5(IDUA):c.1955A>G (p.Asn652Ser)
NM_000203.5(IDUA):c.1959A>T (p.Pro653=) rs1264323702
NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg) rs387906504
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.300-1G>A rs1553916890
NM_000203.5(IDUA):c.300-3C>G rs1226056948
NM_000203.5(IDUA):c.300-4092_300-2318del
NM_000203.5(IDUA):c.300-4G>A rs2153021604
NM_000203.5(IDUA):c.300-7_306del
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.301G>A (p.Gly101Arg) rs2153021609
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.306del (p.Thr103fs) rs1461124319
NM_000203.5(IDUA):c.312A>C (p.Gly104=) rs2153021615
NM_000203.5(IDUA):c.313C>T (p.Arg105Trp)
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.314G>C (p.Arg105Pro)
NM_000203.5(IDUA):c.316G>C (p.Gly106Arg)
NM_000203.5(IDUA):c.321G>C (p.Leu107=) rs771434526
NM_000203.5(IDUA):c.322A>T (p.Ser108Cys) rs1715015091
NM_000203.5(IDUA):c.324C>T (p.Ser108=) rs1304587706
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)
NM_000203.5(IDUA):c.330C>T (p.Asn110=) rs1715015617
NM_000203.5(IDUA):c.340C>T (p.Leu114=)
NM_000203.5(IDUA):c.346G>C (p.Gly116Arg) rs148946496
NM_000203.5(IDUA):c.348G>A (p.Gly116=) rs1715016939
NM_000203.5(IDUA):c.349del (p.Tyr117fs) rs2153021628
NM_000203.5(IDUA):c.351C>T (p.Tyr117=)
NM_000203.5(IDUA):c.355del (p.Asp119fs)
NM_000203.5(IDUA):c.356A>C (p.Asp119Ala)
NM_000203.5(IDUA):c.362T>C (p.Leu121Pro) rs2153021634
NM_000203.5(IDUA):c.363C>T (p.Leu121=)
NM_000203.5(IDUA):c.367G>A (p.Glu123Lys) rs577729544
NM_000203.5(IDUA):c.367G>T (p.Glu123Ter)
NM_000203.5(IDUA):c.373C>T (p.Gln125Ter)
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+1G>C rs780615798
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.386-1G>A rs2153021698
NM_000203.5(IDUA):c.386-4C>A
NM_000203.5(IDUA):c.386-9G>C rs767145073
NM_000203.5(IDUA):c.390del (p.Phe130fs) rs1560545883
NM_000203.5(IDUA):c.394C>T (p.Leu132=) rs1480225127
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) rs774605197
NM_000203.5(IDUA):c.399G>C (p.Met133Ile) rs558683362
NM_000203.5(IDUA):c.402C>A (p.Gly134=)
NM_000203.5(IDUA):c.403del (p.Ser135fs) rs2153021702
NM_000203.5(IDUA):c.408C>G (p.Ala136=) rs138195998
NM_000203.5(IDUA):c.410C>G (p.Ser137Trp) rs769949390
NM_000203.5(IDUA):c.410C>T (p.Ser137Leu) rs769949390
NM_000203.5(IDUA):c.411G>C (p.Ser137=)
NM_000203.5(IDUA):c.413G>A (p.Gly138Asp) rs866656054
NM_000203.5(IDUA):c.414C>G (p.Gly138=)
NM_000203.5(IDUA):c.416A>C (p.His139Pro) rs2153021706
NM_000203.5(IDUA):c.438G>C (p.Lys146Asn)
NM_000203.5(IDUA):c.439C>T (p.Gln147Ter) rs1389029860
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.452A>G (p.Glu151Gly)
NM_000203.5(IDUA):c.452_453del (p.Glu151fs)
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter) rs1715035049
NM_000203.5(IDUA):c.459G>A (p.Lys153=)
NM_000203.5(IDUA):c.462C>G (p.Asp154Glu) rs2153021723
NM_000203.5(IDUA):c.463T>C (p.Leu155=)
NM_000203.5(IDUA):c.468C>G (p.Val156=) rs763532209
NM_000203.5(IDUA):c.471C>T (p.Ser157=)
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.485G>A (p.Arg162Lys) rs1553916949
NM_000203.5(IDUA):c.488dup (p.Tyr163Ter) rs1553916950
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+1G>A rs1553916957
NM_000203.5(IDUA):c.493+1G>T
NM_000203.5(IDUA):c.493+20G>T
NM_000203.5(IDUA):c.493+4G>A
NM_000203.5(IDUA):c.493+6C>G rs376738689
NM_000203.5(IDUA):c.493+6C>T rs376738689
NM_000203.5(IDUA):c.493+7_493+8delinsAG rs2153021739
NM_000203.5(IDUA):c.493G>C (p.Gly165Arg) rs748326989
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.494-1G>A rs794727701
NM_000203.5(IDUA):c.494-43C>T
NM_000203.5(IDUA):c.494-4G>C
NM_000203.5(IDUA):c.494-6C>T
NM_000203.5(IDUA):c.502G>C (p.Gly168Arg) rs753308650
NM_000203.5(IDUA):c.504_510del (p.Leu169fs)
NM_000203.5(IDUA):c.505C>T (p.Leu169=) rs756471914
NM_000203.5(IDUA):c.507G>A (p.Leu169=)
NM_000203.5(IDUA):c.509C>T (p.Ala170Val)
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.512A>G (p.His171Arg)
NM_000203.5(IDUA):c.512_513del (p.His171fs) rs1715069355
NM_000203.5(IDUA):c.516T>C (p.Val172=) rs746986558
NM_000203.5(IDUA):c.520A>T (p.Lys174Ter)
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_000203.5(IDUA):c.523_534del (p.Trp175_Glu178del)
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter) rs776305028
NM_000203.5(IDUA):c.531C>T (p.Phe177=) rs769331894
NM_000203.5(IDUA):c.532G>A (p.Glu178Lys)
NM_000203.5(IDUA):c.532G>C (p.Glu178Gln)
NM_000203.5(IDUA):c.536C>A (p.Thr179Lys)
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg) rs776098539
NM_000203.5(IDUA):c.537G>T (p.Thr179=) rs761106308
NM_000203.5(IDUA):c.539G>A (p.Trp180Ter) rs1044231895
NM_000203.5(IDUA):c.540G>A (p.Trp180Ter) rs2153021904
NM_000203.5(IDUA):c.540G>C (p.Trp180Cys)
NM_000203.5(IDUA):c.542dup (p.Asn181fs) rs1553917044
NM_000203.5(IDUA):c.543_544inv (p.Glu182Lys)
NM_000203.5(IDUA):c.544G>A (p.Glu182Lys)
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg) rs1238128027
NM_000203.5(IDUA):c.549A>G (p.Pro183=)
NM_000203.5(IDUA):c.553C>G (p.His185Asp)
NM_000203.5(IDUA):c.556C>T (p.His186Tyr)
NM_000203.5(IDUA):c.558C>T (p.His186=) rs1164118339
NM_000203.5(IDUA):c.567C>T (p.Asp189=)
NM_000203.5(IDUA):c.569A>G (p.Asn190Ser)
NM_000203.5(IDUA):c.570C>T (p.Asn190=)
NM_000203.5(IDUA):c.570del (p.Asn190fs) rs1330366594
NM_000203.5(IDUA):c.573C>G (p.Val191=)
NM_000203.5(IDUA):c.573C>T (p.Val191=) rs1560546652
NM_000203.5(IDUA):c.575C>G (p.Ser192Cys) rs1189807498
NM_000203.5(IDUA):c.576del (p.Ser192_Met193insTer)
NM_000203.5(IDUA):c.579G>A (p.Met193Ile) rs2153021918
NM_000203.5(IDUA):c.585dup (p.Gln196fs) rs2153021921
NM_000203.5(IDUA):c.586C>T (p.Gln196Ter)
NM_000203.5(IDUA):c.589+17G>A rs2153021928
NM_000203.5(IDUA):c.589+1G>T rs1293215555
NM_000203.5(IDUA):c.589+20G>T
NM_000203.5(IDUA):c.589+20dup
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.589G>A (p.Gly197Ser) rs2153021926
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.590-1G>A rs1715084294
NM_000203.5(IDUA):c.590-20G>C
NM_000203.5(IDUA):c.590-2A>G rs1252941339
NM_000203.5(IDUA):c.590-45G>C rs6829789
NM_000203.5(IDUA):c.590-4C>A rs369299361
NM_000203.5(IDUA):c.590-4C>T rs369299361
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.590-8del
NM_000203.5(IDUA):c.590-8dup
NM_000203.5(IDUA):c.590-9_590-8delinsTT rs2153021960
NM_000203.5(IDUA):c.590G>A (p.Gly197Asp) rs770087890
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.601TAC[3] (p.Tyr202dup) rs1553917091
NM_000203.5(IDUA):c.603C>T (p.Tyr201=)
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.606C>T (p.Tyr202=) rs1033313360
NM_000203.5(IDUA):c.607G>A (p.Asp203Asn) rs2153021976
NM_000203.5(IDUA):c.607G>T (p.Asp203Tyr) rs2153021976
NM_000203.5(IDUA):c.607_614dup (p.Cys205fs)
NM_000203.5(IDUA):c.608A>G (p.Asp203Gly) rs2153021978
NM_000203.5(IDUA):c.612C>G (p.Ala204=)
NM_000203.5(IDUA):c.612C>T (p.Ala204=) rs372948062
NM_000203.5(IDUA):c.612_615del (p.Cys205fs) rs875989947
NM_000203.5(IDUA):c.612_615dup (p.Ser206fs) rs875989947
NM_000203.5(IDUA):c.613T>A (p.Cys205Ser)
NM_000203.5(IDUA):c.613T>G (p.Cys205Gly)
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) rs786200915
NM_000203.5(IDUA):c.614G>A (p.Cys205Tyr) rs1715086540
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter) rs1715086654
NM_000203.5(IDUA):c.617C>A (p.Ser206Ter)
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.621G>T (p.Glu207Asp)
NM_000203.5(IDUA):c.623G>C (p.Gly208Ala)
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.629G>A (p.Arg210His)
NM_000203.5(IDUA):c.629_630delinsAG (p.Arg210Gln)
NM_000203.5(IDUA):c.630del (p.Ala211fs)
NM_000203.5(IDUA):c.633C>T (p.Ala211=)
NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup) rs760582777
NM_000203.5(IDUA):c.639C>T (p.Ser213=) rs1383674405
NM_000203.5(IDUA):c.640_642dup (p.Pro214dup) rs764105238
NM_000203.5(IDUA):c.641C>G (p.Pro214Arg)
NM_000203.5(IDUA):c.642C>T (p.Pro214=)
NM_000203.5(IDUA):c.642_646del (p.Leu216fs) rs2153022009
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.655G>A (p.Gly219Arg)
NM_000203.5(IDUA):c.655G>C (p.Gly219Arg)
NM_000203.5(IDUA):c.660C>A (p.Gly220=)
NM_000203.5(IDUA):c.663C>T (p.Pro221=) rs368553582
NM_000203.5(IDUA):c.663del (p.Gly222fs)
NM_000203.5(IDUA):c.666C>G (p.Gly222=)
NM_000203.5(IDUA):c.667G>T (p.Asp223Tyr) rs183347428
NM_000203.5(IDUA):c.669C>G (p.Asp223Glu)
NM_000203.5(IDUA):c.670T>C (p.Ser224Pro)
NM_000203.5(IDUA):c.675C>T (p.Phe225=) rs767436466
NM_000203.5(IDUA):c.675_677delinsT (p.Thr227fs)
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.702C>T (p.Ser234=)
NM_000203.5(IDUA):c.709C>G (p.Leu237Val)
NM_000203.5(IDUA):c.712C>T (p.Leu238=)
NM_000203.5(IDUA):c.713T>C (p.Leu238Pro) rs148789453
NM_000203.5(IDUA):c.714G>T (p.Leu238=) rs1295602141
NM_000203.5(IDUA):c.715C>A (p.Arg239Ser) rs1715096263
NM_000203.5(IDUA):c.718C>A (p.His240Asn) rs1374359136
NM_000203.5(IDUA):c.718C>T (p.His240Tyr)
NM_000203.5(IDUA):c.720C>G (p.His240Gln) rs1715096917
NM_000203.5(IDUA):c.722_723delinsAA (p.Cys241Ter)
NM_000203.5(IDUA):c.727G>A (p.Asp243Asn) rs1460797649
NM_000203.5(IDUA):c.734C>T (p.Thr245Ile) rs1226615259
NM_000203.5(IDUA):c.735C>T (p.Thr245=)
NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del) rs764800004
NM_000203.5(IDUA):c.741C>A (p.Phe247Leu)
NM_000203.5(IDUA):c.746C>T (p.Thr249Ile)
NM_000203.5(IDUA):c.747T>C (p.Thr249=)
NM_000203.5(IDUA):c.750G>C (p.Gly250=)
NM_000203.5(IDUA):c.751del (p.Glu251fs)
NM_000203.5(IDUA):c.751dup (p.Glu251fs)
NM_000203.5(IDUA):c.753G>A (p.Glu251=) rs1471525812
NM_000203.5(IDUA):c.774C>A (p.Tyr258Ter)
NM_000203.5(IDUA):c.774C>T (p.Tyr258=)
NM_000203.5(IDUA):c.775A>C (p.Ile259Leu) rs2153022099
NM_000203.5(IDUA):c.777C>T (p.Ile259=)
NM_000203.5(IDUA):c.784del (p.His262fs) rs757928590
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.793-10C>G rs886059754
NM_000203.5(IDUA):c.793-13G>A rs2153022144
NM_000203.5(IDUA):c.793-2A>G
NM_000203.5(IDUA):c.793-7C>T
NM_000203.5(IDUA):c.793-9C>A
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000203.5(IDUA):c.794G>A (p.Gly265Asp)
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.820G>T (p.Glu274Ter) rs1553917192
NM_000203.5(IDUA):c.826_828del (p.Glu276del)
NM_000203.5(IDUA):c.828G>C (p.Glu276Asp)
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.853del (p.Gln285fs) rs2153022188
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.860T>G (p.Phe287Cys) rs748239393
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.866del (p.Lys289fs)
NM_000203.5(IDUA):c.870C>A (p.Phe290Leu) rs1715117568
NM_000203.5(IDUA):c.870C>T (p.Phe290=)
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.879C>A (p.Thr293=) rs1472617552
NM_000203.5(IDUA):c.879C>G (p.Thr293=)
NM_000203.5(IDUA):c.882dup (p.Ile295fs) rs2153022202
NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup) rs1553917216
NM_000203.5(IDUA):c.888C>T (p.Tyr296=) rs1463865220
NM_000203.5(IDUA):c.894C>A (p.Asp298Glu)
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.900G>A (p.Ala300=) rs1715120552
NM_000203.5(IDUA):c.900G>T (p.Ala300=)
NM_000203.5(IDUA):c.901G>C (p.Asp301His)
NM_000203.5(IDUA):c.903C>G (p.Asp301Glu) rs759390416
NM_000203.5(IDUA):c.904C>A (p.Pro302Thr) rs1715120993
NM_000203.5(IDUA):c.905C>G (p.Pro302Arg) rs767140903
NM_000203.5(IDUA):c.905del (p.Pro302fs) rs2153022225
NM_000203.5(IDUA):c.910del (p.Val304fs) rs2153022228
NM_000203.5(IDUA):c.911del (p.Val304fs) rs2153022229
NM_000203.5(IDUA):c.915C>A (p.Gly305=)
NM_000203.5(IDUA):c.915C>G (p.Gly305=) rs1245130094
NM_000203.5(IDUA):c.916T>G (p.Trp306Gly)
NM_000203.5(IDUA):c.917G>T (p.Trp306Leu)
NM_000203.5(IDUA):c.920C>T (p.Ser307Phe)
NM_000203.5(IDUA):c.927A>G (p.Pro309=)
NM_000203.5(IDUA):c.927A>T (p.Pro309=)
NM_000203.5(IDUA):c.928C>T (p.Gln310Ter) rs121965023
NM_000203.5(IDUA):c.932C>G (p.Pro311Arg)
NM_000203.5(IDUA):c.936G>A (p.Trp312Ter) rs1715123409
NM_000203.5(IDUA):c.940G>A (p.Ala314Thr) rs1715123919
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.950C>T (p.Thr317Ile)
NM_000203.5(IDUA):c.951C>G (p.Thr317=)
NM_000203.5(IDUA):c.951C>T (p.Thr317=) rs1577540556
NM_000203.5(IDUA):c.952T>C (p.Tyr318His)
NM_000203.5(IDUA):c.954C>G (p.Tyr318Ter)
NM_000203.5(IDUA):c.954C>T (p.Tyr318=) rs1400939830
NM_000203.5(IDUA):c.955G>A (p.Ala319Thr)
NM_000203.5(IDUA):c.956C>A (p.Ala319Glu) rs781534097
NM_000203.5(IDUA):c.956C>T (p.Ala319Val) rs781534097
NM_000203.5(IDUA):c.958G>A (p.Ala320Thr)
NM_000203.5(IDUA):c.964G>T (p.Val322Leu) rs1433608644
NM_000203.5(IDUA):c.965del (p.Val322fs) rs2153022263
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+1G>A rs794727840
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.973-13T>G
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.973-45G>C rs6831021
NM_000203.5(IDUA):c.973-5C>T
NM_000203.5(IDUA):c.975C>A (p.Val325=) rs2153022311
NM_000203.5(IDUA):c.975_980del (p.Ile326_Ala327del) rs1553917253
NM_000203.5(IDUA):c.977T>C (p.Ile326Thr) rs1461992821
NM_000203.5(IDUA):c.981G>C (p.Ala327=)
NM_000203.5(IDUA):c.984G>C (p.Gln328His)
NM_000203.5(IDUA):c.995T>C (p.Leu332Pro) rs1222686614
NM_000203.5(IDUA):c.996G>A (p.Leu332=)
NM_000203.5(IDUA):c.996G>C (p.Leu332=) rs1052930401

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