ClinVar Miner

List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-II by Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova

Minimum submission review status: Collection method:
Minimum conflict level:
Total variants: 482
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) rs782286857 0.00005
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946 0.00001
NM_000202.8(IDS):c.1000G>A (p.Asp334Asn)
NM_000202.8(IDS):c.1001A>C (p.Asp334Ala)
NM_000202.8(IDS):c.1003C>T (p.His335Tyr) rs869025302
NM_000202.8(IDS):c.1004A>C (p.His335Pro)
NM_000202.8(IDS):c.1006+1G>A rs869025308
NM_000202.8(IDS):c.1006+1G>C rs869025308
NM_000202.8(IDS):c.1006+1G>T rs869025308
NM_000202.8(IDS):c.1006+2T>A
NM_000202.8(IDS):c.1006+2T>C
NM_000202.8(IDS):c.1006+2T>G rs2089378420
NM_000202.8(IDS):c.1006G>A (p.Gly336Arg)
NM_000202.8(IDS):c.1006G>C (p.Gly336Arg)
NM_000202.8(IDS):c.1007-1G>A rs2520785671
NM_000202.8(IDS):c.1007-1G>C
NM_000202.8(IDS):c.1007-2A>C rs2124006451
NM_000202.8(IDS):c.1007G>A (p.Gly336Glu) rs2520785646
NM_000202.8(IDS):c.1007G>T (p.Gly336Val)
NM_000202.8(IDS):c.1007_1046del
NM_000202.8(IDS):c.1009T>C (p.Trp337Arg)
NM_000202.8(IDS):c.1009del (p.Trp337fs)
NM_000202.8(IDS):c.1010G>A (p.Trp337Ter)
NM_000202.8(IDS):c.1011G>A (p.Trp337Ter)
NM_000202.8(IDS):c.1016T>G (p.Leu339Arg)
NM_000202.8(IDS):c.1018G>C (p.Gly340Arg) rs2124006398
NM_000202.8(IDS):c.1019G>A (p.Gly340Asp) rs2520785446
NM_000202.8(IDS):c.1019G>T (p.Gly340Val)
NM_000202.8(IDS):c.1020_1021dup (p.Glu341fs)
NM_000202.8(IDS):c.1023del (p.Glu341fs)
NM_000202.8(IDS):c.1025dup (p.His342fs)
NM_000202.8(IDS):c.1026_1027delinsAT (p.His342_Gly343delinsGlnTer)
NM_000202.8(IDS):c.102_103delinsT (p.Asp35fs)
NM_000202.8(IDS):c.103+1G>A
NM_000202.8(IDS):c.103+2T>A
NM_000202.8(IDS):c.1030G>T (p.Glu344Ter)
NM_000202.8(IDS):c.1034G>A (p.Trp345Ter)
NM_000202.8(IDS):c.1035G>A (p.Trp345Ter)
NM_000202.8(IDS):c.1036del (p.Ala346fs)
NM_000202.8(IDS):c.1037C>T (p.Ala346Val)
NM_000202.8(IDS):c.1038del (p.Lys347fs)
NM_000202.8(IDS):c.1039A>C (p.Lys347Gln)
NM_000202.8(IDS):c.1039A>G (p.Lys347Glu)
NM_000202.8(IDS):c.104-1G>A
NM_000202.8(IDS):c.104-2A>G rs2089505773
NM_000202.8(IDS):c.1040A>T (p.Lys347Ile)
NM_000202.8(IDS):c.1043_1050del (p.Tyr348fs)
NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter) rs1569560392
NM_000202.8(IDS):c.1044del (p.Lys347_Tyr348insTer)
NM_000202.8(IDS):c.1046G>T (p.Ser349Ile)
NM_000202.8(IDS):c.1049del (p.Asn350fs)
NM_000202.8(IDS):c.1053del (p.Phe351fs)
NM_000202.8(IDS):c.1060_1071del (p.Ala354_Val357del)
NM_000202.8(IDS):c.1075del (p.Pro358_Leu359insTer)
NM_000202.8(IDS):c.1080_1086del (p.Ile360fs)
NM_000202.8(IDS):c.1093G>T (p.Gly365Ter)
NM_000202.8(IDS):c.1096_1115del (p.Arg366fs)
NM_000202.8(IDS):c.1104_1122del (p.Ser369fs)
NM_000202.8(IDS):c.1106C>A (p.Ser369Ter) rs1557338127
NM_000202.8(IDS):c.1106C>G (p.Ser369Ter)
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1123G>T (p.Glu375Ter) rs782634993
NM_000202.8(IDS):c.1129del (p.Leu377fs) rs2089341718
NM_000202.8(IDS):c.1132_1133del (p.Phe378fs) rs869025306
NM_000202.8(IDS):c.113dup (p.Asn38fs)
NM_000202.8(IDS):c.1141del (p.Leu381fs)
NM_000202.8(IDS):c.1141dup (p.Leu381fs)
NM_000202.8(IDS):c.1142_1143del (p.Leu381fs)
NM_000202.8(IDS):c.1143_1153dup (p.Asp385fs)
NM_000202.8(IDS):c.1152del (p.Phe384fs)
NM_000202.8(IDS):c.115_118dup (p.Leu40fs)
NM_000202.8(IDS):c.1165C>T (p.Gln389Ter) rs1557338104
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del) rs2089505317
NM_000202.8(IDS):c.1181-1G>C rs864622777
NM_000202.8(IDS):c.1181-2A>G
NM_000202.8(IDS):c.1185del (p.Arg395fs)
NM_000202.8(IDS):c.1186C>T (p.Gln396Ter)
NM_000202.8(IDS):c.1186_1187insTGCCT (p.Gln396fs)
NM_000202.8(IDS):c.1191del (p.Met398fs) rs2089308367
NM_000202.8(IDS):c.1198dup (p.Leu400fs)
NM_000202.8(IDS):c.1214_1220del (p.Ser405fs) rs2089308167
NM_000202.8(IDS):c.1215del (p.Leu406fs)
NM_000202.8(IDS):c.1216_1217del (p.Leu406fs) rs2123995091
NM_000202.8(IDS):c.121_123del (p.Leu41del) rs2124066296
NM_000202.8(IDS):c.1220_1221del (p.Phe407fs)
NM_000202.8(IDS):c.1221del (p.Thr409fs) rs2089308131
NM_000202.8(IDS):c.1224del (p.Thr409fs)
NM_000202.8(IDS):c.1229dup (p.Ala411fs)
NM_000202.8(IDS):c.1234G>T (p.Gly412Ter) rs2089307950
NM_000202.8(IDS):c.1239_1240insCT (p.Ala414fs) rs2089307879
NM_000202.8(IDS):c.123del (p.Ile42fs)
NM_000202.8(IDS):c.124ATC[1] (p.Ile43del)
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly) rs199422229
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) rs886044835
NM_000202.8(IDS):c.1266C>A (p.Cys422Ter)
NM_000202.8(IDS):c.1269dup (p.Val424fs)
NM_000202.8(IDS):c.1270_1271insC (p.Val424fs)
NM_000202.8(IDS):c.1270_1271insCC (p.Val424fs)
NM_000202.8(IDS):c.1270del (p.Val424fs)
NM_000202.8(IDS):c.1274_1277del (p.Pro425fs)
NM_000202.8(IDS):c.1274del (p.Pro425fs)
NM_000202.8(IDS):c.1277C>G (p.Ser426Ter)
NM_000202.8(IDS):c.1283_1284del (p.His428fs)
NM_000202.8(IDS):c.1288G>T (p.Glu430Ter)
NM_000202.8(IDS):c.128_129del (p.Ile43fs)
NM_000202.8(IDS):c.1294T>C (p.Cys432Arg)
NM_000202.8(IDS):c.1294_1298dup (p.Arg433fs)
NM_000202.8(IDS):c.1295G>A (p.Cys432Tyr)
NM_000202.8(IDS):c.1296C>A (p.Cys432Ter)
NM_000202.8(IDS):c.12_13del (p.Arg5fs)
NM_000202.8(IDS):c.1312del (p.Leu438fs)
NM_000202.8(IDS):c.1319dup (p.His441fs)
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.1337dup (p.Asp446fs)
NM_000202.8(IDS):c.133G>A (p.Asp45Asn)
NM_000202.8(IDS):c.133G>C (p.Asp45His) rs869025301
NM_000202.8(IDS):c.133del (p.Asp45fs) rs2089504895
NM_000202.8(IDS):c.1340T>A (p.Leu447Ter) rs2089306573
NM_000202.8(IDS):c.1344del (p.Glu449fs)
NM_000202.8(IDS):c.1348del (p.Asp450fs)
NM_000202.8(IDS):c.1353_1354insATCG (p.Tyr452fs)
NM_000202.8(IDS):c.1353_1357del (p.Tyr452fs) rs2089306333
NM_000202.8(IDS):c.1356C>G (p.Tyr452Ter)
NM_000202.8(IDS):c.1356_1366del (p.Tyr452_Asn456delinsTer)
NM_000202.8(IDS):c.135T>A (p.Asp45Glu)
NM_000202.8(IDS):c.1362_1365dup (p.Asn456delinsTrpTer)
NM_000202.8(IDS):c.136G>A (p.Asp46Asn) rs2089504816
NM_000202.8(IDS):c.1375G>T (p.Glu459Ter) rs2123994508
NM_000202.8(IDS):c.1377del (p.Glu459fs)
NM_000202.8(IDS):c.137A>C (p.Asp46Ala)
NM_000202.8(IDS):c.1390dup (p.Ser464fs)
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter) rs864622772
NM_000202.8(IDS):c.1396_1404dup (p.Arg468_Pro469insTyrProArg)
NM_000202.8(IDS):c.1398T>A (p.Tyr466Ter)
NM_000202.8(IDS):c.1400C>G (p.Pro467Arg) rs1602725808
NM_000202.8(IDS):c.1400C>T (p.Pro467Leu) rs1602725808
NM_000202.8(IDS):c.1402C>G (p.Arg468Gly)
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1403G>C (p.Arg468Pro) rs113993946
NM_000202.8(IDS):c.1403G>T (p.Arg468Leu) rs113993946
NM_000202.8(IDS):c.1411_1412del (p.Asp471fs)
NM_000202.8(IDS):c.1418del (p.Pro473fs)
NM_000202.8(IDS):c.1420C>T (p.Gln474Ter)
NM_000202.8(IDS):c.1421_1422del (p.Gln474fs)
NM_000202.8(IDS):c.1424G>A (p.Trp475Ter)
NM_000202.8(IDS):c.1431del (p.Asp478fs) rs2089305275
NM_000202.8(IDS):c.1433del (p.Asp478fs)
NM_000202.8(IDS):c.1438_1442del (p.Pro480fs) rs2089305109
NM_000202.8(IDS):c.1439C>A (p.Pro480Gln)
NM_000202.8(IDS):c.1439C>G (p.Pro480Arg)
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
NM_000202.8(IDS):c.143G>C (p.Arg48Pro) rs1569560528
NM_000202.8(IDS):c.1444_1445dup (p.Leu482fs)
NM_000202.8(IDS):c.1445T>G (p.Leu482Ter) rs2520754916
NM_000202.8(IDS):c.1453A>T (p.Ile485Leu)
NM_000202.8(IDS):c.1454T>C (p.Ile485Thr) rs782430567
NM_000202.8(IDS):c.1454T>G (p.Ile485Arg)
NM_000202.8(IDS):c.145_161delinsT (p.Pro49fs)
NM_000202.8(IDS):c.1462_1463insG (p.Met488fs)
NM_000202.8(IDS):c.1463del (p.Met488fs) rs869025307
NM_000202.8(IDS):c.1466G>A (p.Gly489Asp)
NM_000202.8(IDS):c.1466G>C (p.Gly489Ala) rs104894863
NM_000202.8(IDS):c.1466G>T (p.Gly489Val)
NM_000202.8(IDS):c.1466del (p.Gly489fs) rs2123994190
NM_000202.8(IDS):c.1470T>A (p.Tyr490Ter) rs2123994176
NM_000202.8(IDS):c.1478G>C (p.Arg493Pro) rs782347729
NM_000202.8(IDS):c.147del (p.Ser50fs)
NM_000202.8(IDS):c.1482_1488del (p.Asp496fs)
NM_000202.8(IDS):c.1489dup (p.Tyr497fs)
NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs) rs2089304532
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly) rs2089304297
NM_000202.8(IDS):c.1505G>C (p.Trp502Ser) rs199422228
NM_000202.8(IDS):c.1506G>C (p.Trp502Cys)
NM_000202.8(IDS):c.1509del (p.Gly504fs)
NM_000202.8(IDS):c.1511del (p.Gly504fs)
NM_000202.8(IDS):c.1525G>T (p.Glu509Ter)
NM_000202.8(IDS):c.152_236del (p.Leu51fs) rs2124065699
NM_000202.8(IDS):c.155del (p.Gly52fs)
NM_000202.8(IDS):c.1561G>T (p.Glu521Ter)
NM_000202.8(IDS):c.1561del (p.Glu521fs)
NM_000202.8(IDS):c.1563del (p.Glu521fs)
NM_000202.8(IDS):c.1567dup (p.Tyr523fs)
NM_000202.8(IDS):c.1568_1581dup (p.Asp528fs)
NM_000202.8(IDS):c.1576del (p.Asp526fs)
NM_000202.8(IDS):c.1587del (p.Leu530fs)
NM_000202.8(IDS):c.1589dup (p.Leu530fs) rs2124648266
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter) rs886044837
NM_000202.8(IDS):c.159T>A (p.Cys53Ter)
NM_000202.8(IDS):c.1611del (p.Asn537fs)
NM_000202.8(IDS):c.161dup (p.Tyr54Ter)
NM_000202.8(IDS):c.162T>A (p.Tyr54Ter) rs141088021
NM_000202.8(IDS):c.162del (p.Cys53_Tyr54insTer)
NM_000202.8(IDS):c.166del (p.Asp56fs)
NM_000202.8(IDS):c.182_189del (p.Ser61fs)
NM_000202.8(IDS):c.185del (p.Pro62fs)
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.189T>G (p.Asn63Lys)
NM_000202.8(IDS):c.196C>T (p.Gln66Ter) rs1557340403
NM_000202.8(IDS):c.1A>T (p.Met1Leu)
NM_000202.8(IDS):c.205_206insAAACTGGCAT (p.Ser69Ter) rs2124065847
NM_000202.8(IDS):c.208dup (p.His70fs) rs797044671
NM_000202.8(IDS):c.213_225del (p.Ser71fs)
NM_000202.8(IDS):c.219del (p.Phe74fs)
NM_000202.8(IDS):c.21_22insG (p.Arg8fs)
NM_000202.8(IDS):c.223C>T (p.Gln75Ter) rs2089503778
NM_000202.8(IDS):c.22C>T (p.Arg8Ter) rs1602750610
NM_000202.8(IDS):c.22_37del (p.Arg8fs) rs864622775
NM_000202.8(IDS):c.230C>A (p.Ala77Asp) rs2520900702
NM_000202.8(IDS):c.231_236del (p.Phe78_Ala79del)
NM_000202.8(IDS):c.236del (p.Ala79fs)
NM_000202.8(IDS):c.238C>T (p.Gln80Ter) rs1569560527
NM_000202.8(IDS):c.240+1G>A
NM_000202.8(IDS):c.240+1G>C
NM_000202.8(IDS):c.240+1G>T
NM_000202.8(IDS):c.241-1G>A
NM_000202.8(IDS):c.241-1G>C
NM_000202.8(IDS):c.241-2A>G rs2520897254
NM_000202.8(IDS):c.241C>T (p.Gln81Ter) rs2520897240
NM_000202.8(IDS):c.241_284del
NM_000202.8(IDS):c.242A>G (p.Gln81Arg)
NM_000202.8(IDS):c.245C>T (p.Ala82Val)
NM_000202.8(IDS):c.247del (p.Val83fs)
NM_000202.8(IDS):c.248del (p.Val83fs) rs2089497718
NM_000202.8(IDS):c.251G>C (p.Cys84Ser)
NM_000202.8(IDS):c.252C>A (p.Cys84Ter) rs1557340286
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.253G>C (p.Ala85Pro)
NM_000202.8(IDS):c.253G>T (p.Ala85Ser)
NM_000202.8(IDS):c.254C>A (p.Ala85Asp)
NM_000202.8(IDS):c.257C>A (p.Pro86Gln)
NM_000202.8(IDS):c.257C>G (p.Pro86Arg) rs1557340280
NM_000202.8(IDS):c.257C>T (p.Pro86Leu) rs1557340280
NM_000202.8(IDS):c.257del (p.Pro86fs)
NM_000202.8(IDS):c.260G>C (p.Ser87Thr)
NM_000202.8(IDS):c.261C>A (p.Ser87Arg)
NM_000202.8(IDS):c.262C>A (p.Arg88Ser)
NM_000202.8(IDS):c.262C>G (p.Arg88Gly)
NM_000202.8(IDS):c.262C>T (p.Arg88Cys) rs398123249
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.263G>C (p.Arg88Pro)
NM_000202.8(IDS):c.263G>T (p.Arg88Leu)
NM_000202.8(IDS):c.283A>G (p.Arg95Gly)
NM_000202.8(IDS):c.283A>T (p.Arg95Trp) rs2089497268
NM_000202.8(IDS):c.283del (p.Arg95fs)
NM_000202.8(IDS):c.284G>C (p.Arg95Thr)
NM_000202.8(IDS):c.284_287del (p.Arg95fs)
NM_000202.8(IDS):c.285G>C (p.Arg95Ser)
NM_000202.8(IDS):c.285G>T (p.Arg95Ser)
NM_000202.8(IDS):c.286A>T (p.Arg96Ter)
NM_000202.8(IDS):c.288del (p.Arg96fs)
NM_000202.8(IDS):c.28_37del (p.Leu10fs)
NM_000202.8(IDS):c.298dup (p.Thr100fs)
NM_000202.8(IDS):c.305del (p.Leu102fs) rs2089496744
NM_000202.8(IDS):c.309C>A (p.Tyr103Ter) rs1174495581
NM_000202.8(IDS):c.309C>G (p.Tyr103Ter) rs1174495581
NM_000202.8(IDS):c.314_317dup (p.Ser107fs) rs797044703
NM_000202.8(IDS):c.314_339del (p.Phe105fs)
NM_000202.8(IDS):c.315dup (p.Asn106fs)
NM_000202.8(IDS):c.320_322del (p.Ser107del)
NM_000202.8(IDS):c.323_325del (p.Tyr108del)
NM_000202.8(IDS):c.326G>A (p.Trp109Ter)
NM_000202.8(IDS):c.327G>A (p.Trp109Ter)
NM_000202.8(IDS):c.328A>G (p.Arg110Gly) rs2124063287
NM_000202.8(IDS):c.329G>T (p.Arg110Met)
NM_000202.8(IDS):c.330G>C (p.Arg110Ser)
NM_000202.8(IDS):c.343A>T (p.Asn115Tyr)
NM_000202.8(IDS):c.344A>T (p.Asn115Ile)
NM_000202.8(IDS):c.344del (p.Asn115fs)
NM_000202.8(IDS):c.349_351del (p.Ser117del) rs483352905
NM_000202.8(IDS):c.353C>T (p.Thr118Ile) rs2520895871
NM_000202.8(IDS):c.353_369del (p.Thr118fs)
NM_000202.8(IDS):c.356del (p.Ile119fs) rs2124063133
NM_000202.8(IDS):c.359C>G (p.Pro120Arg) rs193302911
NM_000202.8(IDS):c.359_360insATCC (p.Gln121fs)
NM_000202.8(IDS):c.35G>A (p.Trp12Ter)
NM_000202.8(IDS):c.361C>T (p.Gln121Ter) rs2124063075
NM_000202.8(IDS):c.36G>A (p.Trp12Ter) rs2520910742
NM_000202.8(IDS):c.377dup (p.Asn126fs)
NM_000202.8(IDS):c.383_384del (p.Tyr128fs)
NM_000202.8(IDS):c.389C>A (p.Thr130Asn)
NM_000202.8(IDS):c.393_394dup (p.Ser132fs)
NM_000202.8(IDS):c.397del (p.Val133fs)
NM_000202.8(IDS):c.403A>G (p.Lys135Glu) rs2089495673
NM_000202.8(IDS):c.404A>G (p.Lys135Arg) rs104894861
NM_000202.8(IDS):c.404_405del (p.Lys135fs) rs1557340221
NM_000202.8(IDS):c.405A>T (p.Lys135Asn)
NM_000202.8(IDS):c.409_412del (p.Phe137fs)
NM_000202.8(IDS):c.410T>C (p.Phe137Ser)
NM_000202.8(IDS):c.410_411del (p.Phe137fs)
NM_000202.8(IDS):c.411del (p.His138fs) rs864622776
NM_000202.8(IDS):c.412C>G (p.His138Asp)
NM_000202.8(IDS):c.413A>G (p.His138Arg) rs2520895106
NM_000202.8(IDS):c.416del (p.Pro139fs)
NM_000202.8(IDS):c.416dup (p.Gly140fs)
NM_000202.8(IDS):c.418+1G>A
NM_000202.8(IDS):c.418+1G>C rs1602748255
NM_000202.8(IDS):c.418+1G>T
NM_000202.8(IDS):c.418+2T>C rs2124062810
NM_000202.8(IDS):c.418G>A (p.Gly140Arg)
NM_000202.8(IDS):c.418G>C (p.Gly140Arg)
NM_000202.8(IDS):c.419-1G>A rs1557339927
NM_000202.8(IDS):c.419-1G>C
NM_000202.8(IDS):c.419-2A>G rs2089476206
NM_000202.8(IDS):c.419-2A>T
NM_000202.8(IDS):c.419G>T (p.Gly140Val)
NM_000202.8(IDS):c.41del (p.Gly14fs)
NM_000202.8(IDS):c.420del
NM_000202.8(IDS):c.420dup
NM_000202.8(IDS):c.421del (p.Ile141fs)
NM_000202.8(IDS):c.429dup (p.Asn144Ter)
NM_000202.8(IDS):c.433del (p.His145fs)
NM_000202.8(IDS):c.438_439insTT (p.Asp147fs)
NM_000202.8(IDS):c.43del (p.Leu15fs)
NM_000202.8(IDS):c.440_442delinsTT (p.Asp147fs)
NM_000202.8(IDS):c.442G>A (p.Asp148Asn)
NM_000202.8(IDS):c.442G>C (p.Asp148His)
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr) rs1602745838
NM_000202.8(IDS):c.443A>C (p.Asp148Ala)
NM_000202.8(IDS):c.443A>T (p.Asp148Val)
NM_000202.8(IDS):c.449del (p.Pro150fs)
NM_000202.8(IDS):c.453T>G (p.Tyr151Ter)
NM_000202.8(IDS):c.454A>C (p.Ser152Arg) rs2124055504
NM_000202.8(IDS):c.454A>G (p.Ser152Gly)
NM_000202.8(IDS):c.454_460del (p.Ser152fs)
NM_000202.8(IDS):c.455G>T (p.Ser152Ile)
NM_000202.8(IDS):c.456C>G (p.Ser152Arg)
NM_000202.8(IDS):c.457T>C (p.Trp153Arg)
NM_000202.8(IDS):c.457del (p.Trp153fs)
NM_000202.8(IDS):c.458G>T (p.Trp153Leu)
NM_000202.8(IDS):c.459del (p.Trp153fs)
NM_000202.8(IDS):c.463_464delinsCCGTATAGCTGG (p.Phe155fs) rs869025304
NM_000202.8(IDS):c.470dup (p.Tyr158fs)
NM_000202.8(IDS):c.473ATC[1] (p.His159del) rs1557339887
NM_000202.8(IDS):c.474del (p.His159fs) rs2124055341
NM_000202.8(IDS):c.477dup (p.Pro160fs)
NM_000202.8(IDS):c.479C>G (p.Pro160Arg) rs104894856
NM_000202.8(IDS):c.479C>T (p.Pro160Leu)
NM_000202.8(IDS):c.481_486del (p.Ser161_Ser162del)
NM_000202.8(IDS):c.495T>G (p.Tyr165Ter)
NM_000202.8(IDS):c.496G>T (p.Glu166Ter)
NM_000202.8(IDS):c.500del (p.Asn167fs)
NM_000202.8(IDS):c.504dup (p.Lys169Ter)
NM_000202.8(IDS):c.507+1G>A rs2124055167
NM_000202.8(IDS):c.507+1G>C
NM_000202.8(IDS):c.508-1G>A rs113993947
NM_000202.8(IDS):c.508-1G>C rs113993947
NM_000202.8(IDS):c.509_510del (p.Thr170fs) rs483352904
NM_000202.8(IDS):c.510_511del (p.Cys171fs)
NM_000202.8(IDS):c.512G>A (p.Cys171Tyr) rs2089452802
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.529G>T (p.Glu177Ter)
NM_000202.8(IDS):c.544del (p.Leu182fs)
NM_000202.8(IDS):c.549_564dup (p.Asp190fs)
NM_000202.8(IDS):c.551G>T (p.Cys184Phe) rs2520864754
NM_000202.8(IDS):c.552C>G (p.Cys184Trp)
NM_000202.8(IDS):c.553_565del (p.Pro185fs)
NM_000202.8(IDS):c.559del (p.Asp187fs)
NM_000202.8(IDS):c.57del (p.Val20fs) rs2124069318
NM_000202.8(IDS):c.582_595delinsG (p.Thr195fs)
NM_000202.8(IDS):c.589_592del (p.Pro197fs) rs1602742854
NM_000202.8(IDS):c.590del (p.Pro197fs)
NM_000202.8(IDS):c.595A>T (p.Lys199Ter)
NM_000202.8(IDS):c.596_599del (p.Lys199fs) rs2089451657
NM_000202.8(IDS):c.597dup (p.Gln200fs)
NM_000202.8(IDS):c.598C>T (p.Gln200Ter)
NM_000202.8(IDS):c.601_602del (p.Ser201fs) rs2124046861
NM_000202.8(IDS):c.610C>T (p.Gln204Ter) rs1557339532
NM_000202.8(IDS):c.613G>A (p.Ala205Thr) rs864622779
NM_000202.8(IDS):c.613G>C (p.Ala205Pro) rs864622779
NM_000202.8(IDS):c.613del (p.Ala205fs) rs2089451478
NM_000202.8(IDS):c.614C>A (p.Ala205Asp)
NM_000202.8(IDS):c.622TTG[1] (p.Leu209del) rs2089451270
NM_000202.8(IDS):c.626del (p.Leu209fs)
NM_000202.8(IDS):c.632del (p.Lys211fs) rs2520863360
NM_000202.8(IDS):c.637A>T (p.Lys213Ter)
NM_000202.8(IDS):c.640del (p.Thr214fs)
NM_000202.8(IDS):c.645del (p.Ala216fs)
NM_000202.8(IDS):c.653dup (p.Phe220fs)
NM_000202.8(IDS):c.667_683del (p.Val223fs)
NM_000202.8(IDS):c.670G>C (p.Gly224Arg)
NM_000202.8(IDS):c.671G>A (p.Gly224Glu)
NM_000202.8(IDS):c.671G>C (p.Gly224Ala) rs2520862765
NM_000202.8(IDS):c.683dup (p.His229fs)
NM_000202.8(IDS):c.685C>T (p.His229Tyr) rs2520862570
NM_000202.8(IDS):c.686A>G (p.His229Arg) rs193302905
NM_000202.8(IDS):c.686A>T (p.His229Leu)
NM_000202.8(IDS):c.687C>A (p.His229Gln)
NM_000202.8(IDS):c.687del (p.His229fs) rs2089450471
NM_000202.8(IDS):c.688A>T (p.Ile230Phe) rs1557339507
NM_000202.8(IDS):c.693del (p.Phe232fs)
NM_000202.8(IDS):c.701_708del (p.Arg233_Tyr234insTer)
NM_000202.8(IDS):c.702C>A (p.Tyr234Ter) rs1569560489
NM_000202.8(IDS):c.702C>G (p.Tyr234Ter)
NM_000202.8(IDS):c.705del (p.Lys236fs)
NM_000202.8(IDS):c.708+1G>T rs864622778
NM_000202.8(IDS):c.709-1G>C
NM_000202.8(IDS):c.709dup
NM_000202.8(IDS):c.715C>T (p.Gln239Ter)
NM_000202.8(IDS):c.715_721del (p.Gln239fs) rs2089438281
NM_000202.8(IDS):c.71_90del (p.Leu24fs)
NM_000202.8(IDS):c.71dup (p.Gly25fs)
NM_000202.8(IDS):c.721_727delinsAAGGGGG (p.Leu241_Pro243delinsLysGlyAla)
NM_000202.8(IDS):c.722dup (p.Leu241fs)
NM_000202.8(IDS):c.726T>A (p.Tyr242Ter)
NM_000202.8(IDS):c.733G>T (p.Glu245Ter)
NM_000202.8(IDS):c.737del (p.Asn246fs) rs2124042006
NM_000202.8(IDS):c.73G>T (p.Gly25Ter)
NM_000202.8(IDS):c.748_749delinsA (p.Ala250fs)
NM_000202.8(IDS):c.748dup (p.Ala250fs)
NM_000202.8(IDS):c.753dup (p.Asp252fs)
NM_000202.8(IDS):c.754_767del (p.Pro251_Asp252insTer) rs869025305
NM_000202.8(IDS):c.760G>T (p.Glu254Ter)
NM_000202.8(IDS):c.768del (p.Asp257fs)
NM_000202.8(IDS):c.76_80dup (p.Glu27fs)
NM_000202.8(IDS):c.776_777dup (p.Pro260fs) rs2089437359
NM_000202.8(IDS):c.776_779del (p.Leu259fs)
NM_000202.8(IDS):c.780_793del (p.Val262fs)
NM_000202.8(IDS):c.782del (p.Pro261fs) rs2520851440
NM_000202.8(IDS):c.786_787delinsC (p.Ala263fs) rs2089437147
NM_000202.8(IDS):c.787del (p.Ala263fs)
NM_000202.8(IDS):c.794del (p.Asn265fs)
NM_000202.8(IDS):c.797C>A (p.Pro266His)
NM_000202.8(IDS):c.797C>G (p.Pro266Arg)
NM_000202.8(IDS):c.798del (p.Trp267fs)
NM_000202.8(IDS):c.79G>T (p.Glu27Ter)
NM_000202.8(IDS):c.800G>A (p.Trp267Ter)
NM_000202.8(IDS):c.800_801del (p.Trp267fs) rs2089436972
NM_000202.8(IDS):c.801G>A (p.Trp267Ter)
NM_000202.8(IDS):c.801_802del (p.Trp267fs)
NM_000202.8(IDS):c.801del (p.Pro266_Trp267insTer)
NM_000202.8(IDS):c.801dup (p.Met268fs) rs2089436936
NM_000202.8(IDS):c.805_808dup (p.Ile270fs)
NM_000202.8(IDS):c.812_813insA (p.Gln272fs)
NM_000202.8(IDS):c.814C>T (p.Gln272Ter) rs2089436689
NM_000202.8(IDS):c.815_818dup (p.Glu274fs)
NM_000202.8(IDS):c.817C>T (p.Arg273Trp) rs1602740899
NM_000202.8(IDS):c.817del (p.Arg273fs)
NM_000202.8(IDS):c.820G>T (p.Glu274Ter) rs193302907
NM_000202.8(IDS):c.820dup (p.Glu274fs)
NM_000202.8(IDS):c.822del (p.Asp275fs)
NM_000202.8(IDS):c.829C>T (p.Gln277Ter) rs2089436387
NM_000202.8(IDS):c.82dup (p.Thr28fs)
NM_000202.8(IDS):c.836T>G (p.Leu279Ter)
NM_000202.8(IDS):c.836del (p.Ala278_Leu279insTer)
NM_000202.8(IDS):c.838_842del (p.Asn280fs) rs2089436271
NM_000202.8(IDS):c.854del (p.Tyr285fs)
NM_000202.8(IDS):c.85C>T (p.Gln29Ter)
NM_000202.8(IDS):c.867del (p.Val290fs) rs2520850014
NM_000202.8(IDS):c.876_877del (p.Phe292fs)
NM_000202.8(IDS):c.877C>T (p.Gln293Ter) rs2124041126
NM_000202.8(IDS):c.877_878del (p.Gln293fs)
NM_000202.8(IDS):c.879+1G>A
NM_000202.8(IDS):c.879+2T>A
NM_000202.8(IDS):c.880-1G>A
NM_000202.8(IDS):c.880-1G>C
NM_000202.8(IDS):c.880-2A>C rs2520813902
NM_000202.8(IDS):c.880-2A>G rs2520813902
NM_000202.8(IDS):c.880-2A>T rs2520813902
NM_000202.8(IDS):c.886dup (p.Ile296fs) rs2124020896
NM_000202.8(IDS):c.892C>T (p.Gln298Ter)
NM_000202.8(IDS):c.895dup (p.Ser299fs) rs2124020775
NM_000202.8(IDS):c.899_900del (p.Tyr300fs) rs2089380268
NM_000202.8(IDS):c.904del (p.Ala302fs)
NM_000202.8(IDS):c.908_909del (p.Ser303fs) rs193302913
NM_000202.8(IDS):c.911del (p.Val304fs)
NM_000202.8(IDS):c.922G>A (p.Asp308Asn)
NM_000202.8(IDS):c.922G>T (p.Asp308Tyr)
NM_000202.8(IDS):c.924T>G (p.Asp308Glu)
NM_000202.8(IDS):c.928C>T (p.Gln310Ter)
NM_000202.8(IDS):c.937del (p.Arg313fs)
NM_000202.8(IDS):c.939_954del (p.Leu314fs)
NM_000202.8(IDS):c.940del (p.Leu314fs)
NM_000202.8(IDS):c.955del (p.Asp319fs) rs2124020278
NM_000202.8(IDS):c.957_958insT (p.Asp320Ter)
NM_000202.8(IDS):c.95C>A (p.Ser32Ter)
NM_000202.8(IDS):c.964C>T (p.Gln322Ter)
NM_000202.8(IDS):c.976_979dup (p.Thr327fs)
NM_000202.8(IDS):c.996del (p.Ser333fs)
NM_000202.8(IDS):c.998C>A (p.Ser333Ter) rs104894853
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_000202.8(IDS):c.99del (p.Thr34fs)
NM_000202.8(IDS):c.9_10insT (p.Pro4fs)

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