ClinVar Miner

List of variants reported as likely benign for Mucopolysaccharidosis type 1 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 758
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.408C>T (p.Ala136=) rs138195998 0.00081
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605 0.00080
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.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.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.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.1651-11C>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=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.