ClinVar Miner

List of variants in gene IDS, LOC106050102 studied for Mucopolysaccharidosis, MPS-II

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Gene type:
ClinVar version:
Total variants: 618
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.438C>T (p.Thr146=) rs1141608 0.31135
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) rs145231211 0.00832
NM_000202.8(IDS):c.465T>A (p.Phe155Leu) rs149210251 0.00829
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417 0.00488
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 0.00372
NM_000202.8(IDS):c.825C>T (p.Asp275=) rs148038243 0.00119
NM_000202.8(IDS):c.884A>G (p.Lys295Arg) rs113993953 0.00068
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) rs141720810 0.00055
NM_000202.8(IDS):c.666C>T (p.Ala222=) rs201588028 0.00037
NM_000202.8(IDS):c.1074C>G (p.Pro358=) rs61736891 0.00034
NM_000202.8(IDS):c.849G>C (p.Val283=) rs147374356 0.00020
NM_000202.8(IDS):c.445T>G (p.Ser149Ala) rs146846763 0.00017
NM_000202.8(IDS):c.667G>A (p.Val223Ile) rs200784263 0.00015
NM_000202.8(IDS):c.727C>T (p.Pro243Ser) rs143474305 0.00015
NM_000202.8(IDS):c.507+6G>T rs370769925 0.00012
NM_000202.8(IDS):c.957C>T (p.Asp319=) rs782488487 0.00011
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) rs782445506 0.00010
NM_000202.8(IDS):c.1006+8T>C rs782781942 0.00008
NM_000202.8(IDS):c.1144G>C (p.Asp382His) rs370125505 0.00008
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr) rs376725292 0.00008
NM_000202.8(IDS):c.1085A>G (p.Tyr362Cys) rs141037133 0.00007
NM_000202.8(IDS):c.421A>T (p.Ile141Leu) rs781999172 0.00007
NM_000202.8(IDS):c.419-10T>G rs782082376 0.00006
NM_000202.8(IDS):c.880C>T (p.Arg294Trp) rs199754105 0.00006
NM_000202.8(IDS):c.937C>T (p.Arg313Cys) rs201048643 0.00006
NM_000202.8(IDS):c.950C>A (p.Ala317Asp) rs374576277 0.00006
NM_000202.8(IDS):c.1158C>T (p.Ser386=) rs372340411 0.00005
NM_000202.8(IDS):c.450G>A (p.Pro150=) rs201892132 0.00005
NM_000202.8(IDS):c.507+17G>C rs372806416 0.00005
NM_000202.8(IDS):c.575C>G (p.Pro192Arg) rs139495864 0.00005
NM_000202.8(IDS):c.717G>A (p.Gln239=) rs782087755 0.00005
NM_000202.8(IDS):c.753C>T (p.Pro251=) rs782051908 0.00005
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) rs782286857 0.00005
NM_000202.8(IDS):c.868G>A (p.Val290Met) rs782479238 0.00005
NM_000202.8(IDS):c.880-72A>G rs782031668 0.00005
NM_000202.8(IDS):c.1123G>A (p.Glu375Lys) rs782634993 0.00004
NM_000202.8(IDS):c.449C>T (p.Pro150Leu) rs1406337035 0.00004
NM_000202.8(IDS):c.501C>T (p.Asn167=) rs375547801 0.00004
NM_000202.8(IDS):c.576C>T (p.Pro192=) rs1286461259 0.00004
NM_000202.8(IDS):c.696C>T (p.Phe232=) rs782498858 0.00004
NM_000202.8(IDS):c.760G>A (p.Glu254Lys) rs374066256 0.00004
NM_000202.8(IDS):c.880-19A>T rs781883143 0.00004
NM_000202.8(IDS):c.1047C>T (p.Ser349=) rs375836575 0.00003
NM_000202.8(IDS):c.1100C>T (p.Thr367Met) rs782588855 0.00003
NM_000202.8(IDS):c.477T>C (p.His159=) rs782649306 0.00003
NM_000202.8(IDS):c.517G>A (p.Gly173Arg) rs144334959 0.00003
NM_000202.8(IDS):c.684A>G (p.Pro228=) rs782561677 0.00003
NM_000202.8(IDS):c.708+19G>T rs782662196 0.00003
NM_000202.8(IDS):c.759C>T (p.Pro253=) rs1214276270 0.00003
NM_000202.8(IDS):c.894G>A (p.Gln298=) rs781812519 0.00003
NM_000202.8(IDS):c.982A>G (p.Ile328Val) rs782156020 0.00003
NM_000202.8(IDS):c.1077G>C (p.Leu359=) rs913480314 0.00002
NM_000202.8(IDS):c.1113G>A (p.Pro371=) rs146615651 0.00002
NM_000202.8(IDS):c.508-6T>C rs1352374568 0.00002
NM_000202.8(IDS):c.557T>C (p.Val186Ala) rs782007728 0.00002
NM_000202.8(IDS):c.636G>A (p.Met212Ile) rs1557339525 0.00002
NM_000202.8(IDS):c.681G>A (p.Lys227=) rs1557339514 0.00002
NM_000202.8(IDS):c.826G>A (p.Val276Ile) rs200694354 0.00002
NM_000202.8(IDS):c.852G>A (p.Pro284=) rs782470007 0.00002
NM_000202.8(IDS):c.880-19A>G rs781883143 0.00002
NM_000202.8(IDS):c.880-4G>A rs782623359 0.00002
NM_000202.8(IDS):c.918T>C (p.Tyr306=) rs781920980 0.00002
NM_000202.8(IDS):c.929A>G (p.Gln310Arg) rs782210625 0.00002
NM_000202.8(IDS):c.955G>A (p.Asp319Asn) rs782549285 0.00002
NM_000202.8(IDS):c.995C>T (p.Thr332Ile) rs782704207 0.00002
NM_000202.8(IDS):c.999G>A (p.Ser333=) rs1483244890 0.00002
NM_000202.8(IDS):c.1006+12G>T rs1424435938 0.00001
NM_000202.8(IDS):c.1007-4C>T rs781947914 0.00001
NM_000202.8(IDS):c.1007-9A>G rs927728129 0.00001
NM_000202.8(IDS):c.1046G>A (p.Ser349Asn) rs138918423 0.00001
NM_000202.8(IDS):c.1083C>G (p.Phe361Leu) rs1557338133 0.00001
NM_000202.8(IDS):c.1112C>T (p.Pro371Leu) rs782471629 0.00001
NM_000202.8(IDS):c.1128G>A (p.Lys376=) rs1266043821 0.00001
NM_000202.8(IDS):c.1143C>T (p.Leu381=) rs781805300 0.00001
NM_000202.8(IDS):c.1164A>G (p.Ser388=) rs782363616 0.00001
NM_000202.8(IDS):c.1180+10A>G rs1173314448 0.00001
NM_000202.8(IDS):c.1180+7A>C rs2089340679 0.00001
NM_000202.8(IDS):c.419-6T>C rs1243973593 0.00001
NM_000202.8(IDS):c.448C>T (p.Pro150Ser) rs1557339910 0.00001
NM_000202.8(IDS):c.504T>A (p.Thr168=) rs1557339882 0.00001
NM_000202.8(IDS):c.507+7C>T rs1225416290 0.00001
NM_000202.8(IDS):c.508-15A>G rs1557339558 0.00001
NM_000202.8(IDS):c.508-8T>G rs782357858 0.00001
NM_000202.8(IDS):c.546G>A (p.Leu182=) rs2520864817 0.00001
NM_000202.8(IDS):c.578A>G (p.Glu193Gly) rs782169164 0.00001
NM_000202.8(IDS):c.625T>C (p.Leu209=) rs2520863444 0.00001
NM_000202.8(IDS):c.642G>A (p.Thr214=) rs1738744298 0.00001
NM_000202.8(IDS):c.738C>T (p.Asn246=) rs1569560481 0.00001
NM_000202.8(IDS):c.748G>A (p.Ala250Thr) rs782613338 0.00001
NM_000202.8(IDS):c.749C>T (p.Ala250Val) rs782517589 0.00001
NM_000202.8(IDS):c.785T>A (p.Val262Glu) rs782053689 0.00001
NM_000202.8(IDS):c.795C>T (p.Asn265=) rs1207417919 0.00001
NM_000202.8(IDS):c.807C>T (p.Asp269=) rs1557339297 0.00001
NM_000202.8(IDS):c.880-20T>A rs782517021 0.00001
NM_000202.8(IDS):c.889C>T (p.Arg297Cys) rs782408729 0.00001
NM_000202.8(IDS):c.890G>A (p.Arg297His) rs1290154616 0.00001
NM_000202.8(IDS):c.906C>G (p.Ala302=) rs1227669625 0.00001
NM_000202.8(IDS):c.933C>T (p.Val311=) rs782608372 0.00001
NM_000202.8(IDS):c.934G>A (p.Gly312Ser) rs903259179 0.00001
NM_000202.8(IDS):c.974A>G (p.Asn325Ser) rs202218431 0.00001
NM_000202.8(IDS):c.1000G>A (p.Asp334Asn)
NM_000202.8(IDS):c.1000G>T (p.Asp334Tyr)
NM_000202.8(IDS):c.1001A>C (p.Asp334Ala)
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly) rs2089378583
NM_000202.8(IDS):c.1001A>T (p.Asp334Val)
NM_000202.8(IDS):c.1003C>T (p.His335Tyr) rs869025302
NM_000202.8(IDS):c.1004A>C (p.His335Pro)
NM_000202.8(IDS):c.1004A>G (p.His335Arg) rs2520811436
NM_000202.8(IDS):c.1004A>T (p.His335Leu)
NM_000202.8(IDS):c.1006+19C>G rs782356881
NM_000202.8(IDS):c.1006+19C>T rs782356881
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.1006+5G>C
NM_000202.8(IDS):c.1006+9T>C rs2520811248
NM_000202.8(IDS):c.1006G>A (p.Gly336Arg)
NM_000202.8(IDS):c.1006G>C (p.Gly336Arg)
NM_000202.8(IDS):c.1006G>T (p.Gly336Trp) rs1557338581
NM_000202.8(IDS):c.1006_1006+1delinsTT
NM_000202.8(IDS):c.1007-133A>G rs2124007227
NM_000202.8(IDS):c.1007-15_1007-9delinsGTGGGCTCTAGG
NM_000202.8(IDS):c.1007-1G>A rs2520785671
NM_000202.8(IDS):c.1007-1G>C
NM_000202.8(IDS):c.1007-20C>T rs2124006523
NM_000202.8(IDS):c.1007-2A>C rs2124006451
NM_000202.8(IDS):c.1007-7G>C rs2124006476
NM_000202.8(IDS):c.1007-8T>G rs797044782
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.1008_1019del
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.1010G>T (p.Trp337Leu)
NM_000202.8(IDS):c.1011G>A (p.Trp337Ter)
NM_000202.8(IDS):c.1012G>C (p.Ala338Pro) rs2520785587
NM_000202.8(IDS):c.1016T>C (p.Leu339Pro) rs864622771
NM_000202.8(IDS):c.1016T>G (p.Leu339Arg)
NM_000202.8(IDS):c.1018G>A (p.Gly340Ser) rs2124006398
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.1021G>A (p.Glu341Lys) rs2124006380
NM_000202.8(IDS):c.1023del (p.Glu341fs)
NM_000202.8(IDS):c.1024C>T (p.His342Tyr) rs2089343220
NM_000202.8(IDS):c.1025A>C (p.His342Pro) rs869025303
NM_000202.8(IDS):c.1025A>G (p.His342Arg)
NM_000202.8(IDS):c.1025A>T (p.His342Leu)
NM_000202.8(IDS):c.1025dup (p.His342fs)
NM_000202.8(IDS):c.1026_1027delinsAT (p.His342_Gly343delinsGlnTer)
NM_000202.8(IDS):c.1028G>A (p.Gly343Glu) rs2089343063
NM_000202.8(IDS):c.1028G>T (p.Gly343Val)
NM_000202.8(IDS):c.1030G>A (p.Glu344Lys)
NM_000202.8(IDS):c.1030G>T (p.Glu344Ter)
NM_000202.8(IDS):c.1033T>A (p.Trp345Arg) rs193302906
NM_000202.8(IDS):c.1034G>A (p.Trp345Ter)
NM_000202.8(IDS):c.1034G>C (p.Trp345Ser) rs2089342988
NM_000202.8(IDS):c.1034G>T (p.Trp345Leu)
NM_000202.8(IDS):c.1035G>A (p.Trp345Ter)
NM_000202.8(IDS):c.1035G>C (p.Trp345Cys)
NM_000202.8(IDS):c.1035G>T (p.Trp345Cys) rs2520785058
NM_000202.8(IDS):c.1036G>A (p.Ala346Thr)
NM_000202.8(IDS):c.1036del (p.Ala346fs)
NM_000202.8(IDS):c.1037C>A (p.Ala346Asp)
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.1040A>C (p.Lys347Thr)
NM_000202.8(IDS):c.1040A>G (p.Lys347Arg) rs2089342939
NM_000202.8(IDS):c.1040A>T (p.Lys347Ile)
NM_000202.8(IDS):c.1042T>C (p.Tyr348His)
NM_000202.8(IDS):c.1043_1050del (p.Tyr348fs)
NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter) rs1569560392
NM_000202.8(IDS):c.1044C>T (p.Tyr348=) rs1569560392
NM_000202.8(IDS):c.1044del (p.Lys347_Tyr348insTer)
NM_000202.8(IDS):c.1046G>T (p.Ser349Ile)
NM_000202.8(IDS):c.1047C>A (p.Ser349Arg) rs375836575
NM_000202.8(IDS):c.1048A>C (p.Asn350His)
NM_000202.8(IDS):c.1048A>T (p.Asn350Tyr)
NM_000202.8(IDS):c.1049del (p.Asn350fs)
NM_000202.8(IDS):c.1050T>G (p.Asn350Lys)
NM_000202.8(IDS):c.1053T>C (p.Phe351=) rs2124006183
NM_000202.8(IDS):c.1053del (p.Phe351fs)
NM_000202.8(IDS):c.1057G>T (p.Val353Phe) rs2520784706
NM_000202.8(IDS):c.1060_1071del (p.Ala354_Val357del)
NM_000202.8(IDS):c.1063dup (p.Thr355fs)
NM_000202.8(IDS):c.1065C>T (p.Thr355=) rs2520784615
NM_000202.8(IDS):c.1067A>G (p.His356Arg) rs782023226
NM_000202.8(IDS):c.1072C>A (p.Pro358Thr) rs1557338141
NM_000202.8(IDS):c.1073C>G (p.Pro358Arg)
NM_000202.8(IDS):c.1075del (p.Pro358_Leu359insTer)
NM_000202.8(IDS):c.1077del (p.Ile360fs)
NM_000202.8(IDS):c.1080_1081insGAATAA (p.Phe361delinsGluTer) rs2124006012
NM_000202.8(IDS):c.1080_1086del (p.Ile360fs)
NM_000202.8(IDS):c.1089T>C (p.Val363=) rs2089342297
NM_000202.8(IDS):c.1090C>G (p.Pro364Ala) rs2124005937
NM_000202.8(IDS):c.1090C>T (p.Pro364Ser) rs2124005937
NM_000202.8(IDS):c.1092T>A (p.Pro364=)
NM_000202.8(IDS):c.1093G>T (p.Gly365Ter)
NM_000202.8(IDS):c.1096_1115del (p.Arg366fs)
NM_000202.8(IDS):c.1099A>T (p.Thr367Ser) rs1557338131
NM_000202.8(IDS):c.1101G>A (p.Thr367=) rs2520783969
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.1112del (p.Pro371fs)
NM_000202.8(IDS):c.1113G>T (p.Pro371=) rs146615651
NM_000202.8(IDS):c.1115del (p.Glu372fs) rs2124005776
NM_000202.8(IDS):c.1121G>T (p.Gly374Val) rs2124005760
NM_000202.8(IDS):c.1122C>A (p.Gly374=) rs113993948
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.1133T>C (p.Phe378Ser)
NM_000202.8(IDS):c.1134_1152dup (p.Asp385delinsProLeuProArgProPheTer)
NM_000202.8(IDS):c.1141del (p.Leu381fs)
NM_000202.8(IDS):c.1141dup (p.Leu381fs)
NM_000202.8(IDS):c.1142T>C (p.Leu381Pro)
NM_000202.8(IDS):c.1142T>G (p.Leu381Arg) rs1602730439
NM_000202.8(IDS):c.1142_1143del (p.Leu381fs)
NM_000202.8(IDS):c.1143_1153dup (p.Asp385fs)
NM_000202.8(IDS):c.1147C>A (p.Pro383Thr) rs2089341258
NM_000202.8(IDS):c.1148del (p.Pro383fs) rs797044502
NM_000202.8(IDS):c.1149T>G (p.Pro383=) rs2520783161
NM_000202.8(IDS):c.1150_1151insAAAGGGTCGCA (p.Phe384Ter) rs2089341188
NM_000202.8(IDS):c.1152del (p.Phe384fs)
NM_000202.8(IDS):c.1165C>T (p.Gln389Ter) rs1557338104
NM_000202.8(IDS):c.1166A>T (p.Gln389Leu) rs781925060
NM_000202.8(IDS):c.1170del (p.Met391fs) rs2520782845
NM_000202.8(IDS):c.1177C>G (p.Pro393Ala) rs782185756
NM_000202.8(IDS):c.1180+14T>C rs1557338098
NM_000202.8(IDS):c.1180+17A>G rs1402661618
NM_000202.8(IDS):c.1180+20G>A rs2520782564
NM_000202.8(IDS):c.419-10T>C rs782082376
NM_000202.8(IDS):c.419-12T>A
NM_000202.8(IDS):c.419-16dup rs781852261
NM_000202.8(IDS):c.419-17C>G rs2089476603
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.419-3A>G rs2520881602
NM_000202.8(IDS):c.419-4del rs1388290723
NM_000202.8(IDS):c.419-6del rs781852261
NM_000202.8(IDS):c.419G>T (p.Gly140Val)
NM_000202.8(IDS):c.420G>T (p.Gly140=) rs1557339924
NM_000202.8(IDS):c.420del
NM_000202.8(IDS):c.420dup
NM_000202.8(IDS):c.421A>G (p.Ile141Val) rs781999172
NM_000202.8(IDS):c.421del (p.Ile141fs)
NM_000202.8(IDS):c.425C>A (p.Ser142Tyr) rs193302908
NM_000202.8(IDS):c.425C>T (p.Ser142Phe)
NM_000202.8(IDS):c.428C>T (p.Ser143Phe)
NM_000202.8(IDS):c.429dup (p.Asn144Ter)
NM_000202.8(IDS):c.433del (p.His145fs)
NM_000202.8(IDS):c.438C>A (p.Thr146=) rs1141608
NM_000202.8(IDS):c.438_439insTT (p.Asp147fs)
NM_000202.8(IDS):c.440_442delinsTT (p.Asp147fs)
NM_000202.8(IDS):c.441T>C (p.Asp147=) rs782016642
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.448_471del (p.Pro150_Pro157del)
NM_000202.8(IDS):c.449del (p.Pro150fs)
NM_000202.8(IDS):c.450G>T (p.Pro150=) rs201892132
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>A (p.Ser152Asn) rs193302914
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>A (p.Trp153Ter) rs2124055460
NM_000202.8(IDS):c.458G>T (p.Trp153Leu)
NM_000202.8(IDS):c.459del (p.Trp153fs)
NM_000202.8(IDS):c.463T>C (p.Phe155Leu)
NM_000202.8(IDS):c.463_464delinsCCGTATAGCTGG (p.Phe155fs) rs869025304
NM_000202.8(IDS):c.465T>C (p.Phe155=) rs149210251
NM_000202.8(IDS):c.469C>T (p.Pro157Ser) rs864622774
NM_000202.8(IDS):c.470C>G (p.Pro157Arg) rs2520880779
NM_000202.8(IDS):c.470dup (p.Tyr158fs)
NM_000202.8(IDS):c.473ATC[1] (p.His159del) rs1557339887
NM_000202.8(IDS):c.474T>C (p.Tyr158=) rs2520880726
NM_000202.8(IDS):c.474del (p.His159fs) rs2124055341
NM_000202.8(IDS):c.476A>C (p.His159Pro)
NM_000202.8(IDS):c.477dup (p.Pro160fs)
NM_000202.8(IDS):c.478C>G (p.Pro160Ala)
NM_000202.8(IDS):c.479C>A (p.Pro160His) rs104894856
NM_000202.8(IDS):c.479C>G (p.Pro160Arg) rs104894856
NM_000202.8(IDS):c.479C>T (p.Pro160Leu)
NM_000202.8(IDS):c.480T>A (p.Pro160=) rs2124055254
NM_000202.8(IDS):c.481_486del (p.Ser161_Ser162del)
NM_000202.8(IDS):c.482C>G (p.Ser161Cys) rs2089474844
NM_000202.8(IDS):c.482C>T (p.Ser161Phe) rs2089474844
NM_000202.8(IDS):c.483C>T (p.Ser161=) rs2124055212
NM_000202.8(IDS):c.484T>C (p.Ser162Pro)
NM_000202.8(IDS):c.495T>G (p.Tyr165Ter)
NM_000202.8(IDS):c.496G>T (p.Glu166Ter)
NM_000202.8(IDS):c.500A>G (p.Asn167Ser) rs2520880383
NM_000202.8(IDS):c.500del (p.Asn167fs)
NM_000202.8(IDS):c.504dup (p.Lys169Ter)
NM_000202.8(IDS):c.507+14A>G rs377410868
NM_000202.8(IDS):c.507+17G>T rs372806416
NM_000202.8(IDS):c.507+1G>A rs2124055167
NM_000202.8(IDS):c.507+1G>C
NM_000202.8(IDS):c.507+20A>G rs2520880179
NM_000202.8(IDS):c.507+20A>T rs2520880179
NM_000202.8(IDS):c.507+2T>G rs2124055161
NM_000202.8(IDS):c.508-16T>C
NM_000202.8(IDS):c.508-19T>A rs2124047400
NM_000202.8(IDS):c.508-19T>C rs2124047400
NM_000202.8(IDS):c.508-1G>A rs113993947
NM_000202.8(IDS):c.508-1G>C rs113993947
NM_000202.8(IDS):c.508-20A>G rs1051207857
NM_000202.8(IDS):c.508-20del rs2520865670
NM_000202.8(IDS):c.508-5G>T rs1889382373
NM_000202.8(IDS):c.509_510del (p.Thr170fs) rs483352904
NM_000202.8(IDS):c.510_511del (p.Cys171fs)
NM_000202.8(IDS):c.511T>C (p.Cys171Arg)
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.516A>G (p.Arg172=) rs782751345
NM_000202.8(IDS):c.522A>G (p.Pro174=) rs2124047235
NM_000202.8(IDS):c.525T>A (p.Asp175Glu) rs2089452549
NM_000202.8(IDS):c.529G>T (p.Glu177Ter)
NM_000202.8(IDS):c.532C>G (p.Leu178Val)
NM_000202.8(IDS):c.534C>T (p.Leu178=) rs2124047211
NM_000202.8(IDS):c.540C>T (p.Ala180=) rs2089452510
NM_000202.8(IDS):c.542A>T (p.Asn181Ile)
NM_000202.8(IDS):c.544del (p.Leu182fs)
NM_000202.8(IDS):c.545T>C (p.Leu182Pro)
NM_000202.8(IDS):c.549_564dup (p.Asp190fs)
NM_000202.8(IDS):c.551G>A (p.Cys184Tyr) rs2520864754
NM_000202.8(IDS):c.551G>T (p.Cys184Phe) rs2520864754
NM_000202.8(IDS):c.552C>G (p.Cys184Trp)
NM_000202.8(IDS):c.553C>T (p.Pro185Ser) rs1332401086
NM_000202.8(IDS):c.553_565del (p.Pro185fs)
NM_000202.8(IDS):c.559del (p.Asp187fs)
NM_000202.8(IDS):c.560A>T (p.Asp187Val)
NM_000202.8(IDS):c.570T>C (p.Asp190=) rs2520864567
NM_000202.8(IDS):c.576C>G (p.Pro192=) rs1286461259
NM_000202.8(IDS):c.577G>C (p.Glu193Gln) rs2089452169
NM_000202.8(IDS):c.582_595delinsG (p.Thr195fs)
NM_000202.8(IDS):c.587T>C (p.Leu196Ser) rs398123250
NM_000202.8(IDS):c.589_592del (p.Pro197fs) rs1602742854
NM_000202.8(IDS):c.590C>G (p.Pro197Arg)
NM_000202.8(IDS):c.590C>T (p.Pro197Leu) rs2089451912
NM_000202.8(IDS):c.590del (p.Pro197fs)
NM_000202.8(IDS):c.592G>A (p.Asp198Asn) rs193302904
NM_000202.8(IDS):c.593A>G (p.Asp198Gly)
NM_000202.8(IDS):c.594_595del (p.Asp198fs) rs2124046923
NM_000202.8(IDS):c.595A>T (p.Lys199Ter)
NM_000202.8(IDS):c.596_599del (p.Lys199fs) rs2089451657
NM_000202.8(IDS):c.597_608del (p.Ser201_Gln204del)
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.608A>T (p.Glu203Val) rs2124046817
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.623T>A (p.Leu208Ter) rs2520863476
NM_000202.8(IDS):c.626del (p.Leu209fs)
NM_000202.8(IDS):c.629A>G (p.Glu210Gly)
NM_000202.8(IDS):c.631A>T (p.Lys211Ter) rs2520863392
NM_000202.8(IDS):c.632del (p.Lys211fs) rs2520863360
NM_000202.8(IDS):c.636del (p.Met212fs) rs2520863301
NM_000202.8(IDS):c.637A>T (p.Lys213Ter)
NM_000202.8(IDS):c.640del (p.Thr214fs)
NM_000202.8(IDS):c.641C>G (p.Thr214Arg)
NM_000202.8(IDS):c.642G>T (p.Thr214=) rs1738744298
NM_000202.8(IDS):c.645del (p.Ala216fs)
NM_000202.8(IDS):c.653_654del (p.Pro218fs) rs2089450982
NM_000202.8(IDS):c.653dup (p.Phe220fs)
NM_000202.8(IDS):c.662T>C (p.Leu221Pro)
NM_000202.8(IDS):c.664G>T (p.Ala222Ser) rs2520862911
NM_000202.8(IDS):c.667_683del (p.Val223fs)
NM_000202.8(IDS):c.668T>A (p.Val223Asp)
NM_000202.8(IDS):c.669T>G (p.Val223=) rs2124046491
NM_000202.8(IDS):c.670G>A (p.Gly224Arg) rs2089450754
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.671_672del (p.Gly224fs) rs2520862741
NM_000202.8(IDS):c.673T>G (p.Tyr225Asp)
NM_000202.8(IDS):c.674A>G (p.Tyr225Cys) rs2520862723
NM_000202.8(IDS):c.676C>G (p.His226Asp)
NM_000202.8(IDS):c.676_678dup (p.His226_Lys227insHis)
NM_000202.8(IDS):c.679A>C (p.Lys227Gln)
NM_000202.8(IDS):c.679A>G (p.Lys227Glu)
NM_000202.8(IDS):c.680A>T (p.Lys227Met)
NM_000202.8(IDS):c.682C>A (p.Pro228Thr)
NM_000202.8(IDS):c.682C>G (p.Pro228Ala)
NM_000202.8(IDS):c.682C>T (p.Pro228Ser)
NM_000202.8(IDS):c.683C>A (p.Pro228Gln) rs113993945
NM_000202.8(IDS):c.683C>T (p.Pro228Leu) rs113993945
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.689T>A (p.Ile230Asn)
NM_000202.8(IDS):c.692C>G (p.Pro231Arg) rs2089450305
NM_000202.8(IDS):c.692C>T (p.Pro231Leu) rs2089450305
NM_000202.8(IDS):c.693C>T (p.Pro231=) rs2124046263
NM_000202.8(IDS):c.693del (p.Phe232fs)
NM_000202.8(IDS):c.694T>A (p.Phe232Ile)
NM_000202.8(IDS):c.695dup (p.Arg233fs) rs2520862364
NM_000202.8(IDS):c.696_697del (p.Phe232fs) rs2520862342
NM_000202.8(IDS):c.697A>G (p.Arg233Gly)
NM_000202.8(IDS):c.699A>G (p.Arg233=) rs2089450158
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.702C>T (p.Tyr234=) rs1569560489
NM_000202.8(IDS):c.705C>T (p.Pro235=) rs2520862120
NM_000202.8(IDS):c.705del (p.Lys236fs)
NM_000202.8(IDS):c.708+10T>A rs2124046135
NM_000202.8(IDS):c.708+1G>A rs864622778
NM_000202.8(IDS):c.708+1G>T rs864622778
NM_000202.8(IDS):c.708+2T>C rs2520862052
NM_000202.8(IDS):c.708+2T>G
NM_000202.8(IDS):c.708+6G>T rs2520862010
NM_000202.8(IDS):c.708G>A (p.Lys236=) rs1602742620
NM_000202.8(IDS):c.708G>C (p.Lys236Asn)
NM_000202.8(IDS):c.709-1G>A rs2089438403
NM_000202.8(IDS):c.709-1G>C
NM_000202.8(IDS):c.709-2A>G
NM_000202.8(IDS):c.709-2A>T
NM_000202.8(IDS):c.709-4C>T
NM_000202.8(IDS):c.709-5C>T rs970568454
NM_000202.8(IDS):c.709-657G>A
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.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.729C>T (p.Pro243=) rs2520852496
NM_000202.8(IDS):c.733G>T (p.Glu245Ter)
NM_000202.8(IDS):c.737del (p.Asn246fs) rs2124042006
NM_000202.8(IDS):c.741_743delinsTA (p.Leu249fs) rs2520852344
NM_000202.8(IDS):c.744C>T (p.Thr248=) rs1359058135
NM_000202.8(IDS):c.747G>A (p.Leu249=) rs2124041932
NM_000202.8(IDS):c.748_749delinsA (p.Ala250fs)
NM_000202.8(IDS):c.748dup (p.Ala250fs)
NM_000202.8(IDS):c.750C>G (p.Ala250=) rs200287137
NM_000202.8(IDS):c.753del (p.Asp252fs)
NM_000202.8(IDS):c.753dup (p.Asp252fs)
NM_000202.8(IDS):c.754G>T (p.Asp252Tyr) rs146458524
NM_000202.8(IDS):c.754_767del (p.Pro251_Asp252insTer) rs869025305
NM_000202.8(IDS):c.759C>G (p.Pro253=) rs1214276270
NM_000202.8(IDS):c.760G>T (p.Glu254Ter)
NM_000202.8(IDS):c.768del (p.Asp257fs)
NM_000202.8(IDS):c.771T>A (p.Asp257Glu) rs781865149
NM_000202.8(IDS):c.773G>A (p.Gly258Asp) rs2124041717
NM_000202.8(IDS):c.776T>C (p.Leu259Pro)
NM_000202.8(IDS):c.776T>G (p.Leu259Arg)
NM_000202.8(IDS):c.776_777dup (p.Pro260fs) rs2089437359
NM_000202.8(IDS):c.776_779del (p.Leu259fs)
NM_000202.8(IDS):c.777A>T (p.Leu259=) rs782773319
NM_000202.8(IDS):c.777dup (p.Pro260fs) rs2520851660
NM_000202.8(IDS):c.779C>G (p.Pro260Arg)
NM_000202.8(IDS):c.780C>T (p.Pro260=) rs2520851532
NM_000202.8(IDS):c.780_793del (p.Val262fs)
NM_000202.8(IDS):c.781C>A (p.Pro261Thr) rs141720810
NM_000202.8(IDS):c.781C>T (p.Pro261Ser) rs141720810
NM_000202.8(IDS):c.782C>T (p.Pro261Leu) rs2520851396
NM_000202.8(IDS):c.782del (p.Pro261fs) rs2520851440
NM_000202.8(IDS):c.783T>C (p.Pro261=) rs782714453
NM_000202.8(IDS):c.786_787delinsC (p.Ala263fs) rs2089437147
NM_000202.8(IDS):c.787del (p.Ala263fs)
NM_000202.8(IDS):c.790T>A (p.Tyr264Asn)
NM_000202.8(IDS):c.794A>T (p.Asn265Ile) rs2520851150
NM_000202.8(IDS):c.794del (p.Asn265fs)
NM_000202.8(IDS):c.795C>A (p.Asn265Lys) rs1207417919
NM_000202.8(IDS):c.795C>G (p.Asn265Lys)
NM_000202.8(IDS):c.796C>T (p.Pro266Ser)
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.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.801G>T (p.Trp267Cys) rs2124041510
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.806A>C (p.Asp269Ala)
NM_000202.8(IDS):c.806A>G (p.Asp269Gly) rs1085308006
NM_000202.8(IDS):c.806A>T (p.Asp269Val) rs1085308006
NM_000202.8(IDS):c.811A>T (p.Arg271Trp) rs1602740912
NM_000202.8(IDS):c.812_813insA (p.Gln272fs)
NM_000202.8(IDS):c.813G>A (p.Arg271=) rs2520850738
NM_000202.8(IDS):c.814C>T (p.Gln272Ter) rs2089436689
NM_000202.8(IDS):c.815_818dup (p.Glu274fs)
NM_000202.8(IDS):c.816A>G (p.Gln272=) rs2520850663
NM_000202.8(IDS):c.817C>T (p.Arg273Trp) rs1602740899
NM_000202.8(IDS):c.817del (p.Arg273fs)
NM_000202.8(IDS):c.818G>T (p.Arg273Leu)
NM_000202.8(IDS):c.819G>A (p.Arg273=) rs2520850607
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.823G>A (p.Asp275Asn) rs1803781
NM_000202.8(IDS):c.823G>T (p.Asp275Tyr) rs1803781
NM_000202.8(IDS):c.826G>C (p.Val276Leu) rs200694354
NM_000202.8(IDS):c.826_834del (p.Val276_Ala278del)
NM_000202.8(IDS):c.829C>T (p.Gln277Ter) rs2089436387
NM_000202.8(IDS):c.833C>T (p.Ala278Val) rs369592694
NM_000202.8(IDS):c.834C>T (p.Ala278=) rs2124041303
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.841_873del (p.Ile281_Asp291del)
NM_000202.8(IDS):c.846T>C (p.Ser282=) rs2520850299
NM_000202.8(IDS):c.854del (p.Tyr285fs)
NM_000202.8(IDS):c.858T>G (p.Gly286=) rs2520850128
NM_000202.8(IDS):c.866C>T (p.Pro289Leu) rs2089436037
NM_000202.8(IDS):c.867del (p.Val290fs) rs2520850014
NM_000202.8(IDS):c.876T>G (p.Phe292Leu) rs2520849897
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.878A>G (p.Gln293Arg) rs2089435877
NM_000202.8(IDS):c.879+10A>G rs2124041048
NM_000202.8(IDS):c.879+11del rs2520849696
NM_000202.8(IDS):c.879+12A>G rs2520849675
NM_000202.8(IDS):c.879+14A>G rs2520849650
NM_000202.8(IDS):c.879+17T>G rs2520849634
NM_000202.8(IDS):c.879+1G>A
NM_000202.8(IDS):c.879+20G>A rs2520849578
NM_000202.8(IDS):c.879+2T>A
NM_000202.8(IDS):c.879+7A>G rs2520849777
NM_000202.8(IDS):c.879+9G>C rs2520849739
NM_000202.8(IDS):c.879G>A (p.Gln293=)
NM_000202.8(IDS):c.879G>C (p.Gln293His)
NM_000202.8(IDS):c.880-11del rs781892166
NM_000202.8(IDS):c.880-11dup rs781892166
NM_000202.8(IDS):c.880-12T>G
NM_000202.8(IDS):c.880-19del rs2520814193
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.880-2_880-1delinsCC rs2520813885
NM_000202.8(IDS):c.880-5del rs1458652265
NM_000202.8(IDS):c.880-8A>G
NM_000202.8(IDS):c.884A>T (p.Lys295Ile) rs113993953
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.896G>T (p.Ser299Ile)
NM_000202.8(IDS):c.897C>G (p.Ser299Arg)
NM_000202.8(IDS):c.898T>G (p.Tyr300Asp) rs2089380312
NM_000202.8(IDS):c.899_900del (p.Tyr300fs) rs2089380268
NM_000202.8(IDS):c.904G>T (p.Ala302Ser) rs2520813281
NM_000202.8(IDS):c.904del (p.Ala302fs)
NM_000202.8(IDS):c.907T>C (p.Ser303Pro)
NM_000202.8(IDS):c.908C>T (p.Ser303Phe) rs2124020665
NM_000202.8(IDS):c.908_909del (p.Ser303fs) rs193302913
NM_000202.8(IDS):c.909T>C (p.Ser303=) rs2520813124
NM_000202.8(IDS):c.911del (p.Val304fs)
NM_000202.8(IDS):c.913T>C (p.Ser305Pro) rs2124020632
NM_000202.8(IDS):c.922G>A (p.Asp308Asn)
NM_000202.8(IDS):c.922G>C (p.Asp308His) rs2124020573
NM_000202.8(IDS):c.922G>T (p.Asp308Tyr)
NM_000202.8(IDS):c.923A>G (p.Asp308Gly) rs2124020552
NM_000202.8(IDS):c.924T>G (p.Asp308Glu)
NM_000202.8(IDS):c.928C>T (p.Gln310Ter)
NM_000202.8(IDS):c.929A>C (p.Gln310Pro)
NM_000202.8(IDS):c.931G>C (p.Val311Leu) rs1557338597
NM_000202.8(IDS):c.931G>T (p.Val311Phe) rs1557338597
NM_000202.8(IDS):c.934G>T (p.Gly312Cys)
NM_000202.8(IDS):c.935G>A (p.Gly312Asp) rs193302912
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.941T>A (p.Leu314His)
NM_000202.8(IDS):c.941T>C (p.Leu314Pro)
NM_000202.8(IDS):c.954G>A (p.Leu318=) rs2124020303
NM_000202.8(IDS):c.955del (p.Asp319fs) rs2124020278
NM_000202.8(IDS):c.957C>A (p.Asp319Glu) rs782488487
NM_000202.8(IDS):c.957_958insT (p.Asp320Ter)
NM_000202.8(IDS):c.958G>A (p.Asp320Asn) rs2089379111
NM_000202.8(IDS):c.964C>T (p.Gln322Ter)
NM_000202.8(IDS):c.966G>A (p.Gln322=) rs2124020165
NM_000202.8(IDS):c.967C>T (p.Leu323=) rs2124020149
NM_000202.8(IDS):c.970G>A (p.Ala324Thr) rs2520811966
NM_000202.8(IDS):c.976_979dup (p.Thr327fs)
NM_000202.8(IDS):c.978C>T (p.Ser326=) rs2520811886
NM_000202.8(IDS):c.979A>C (p.Thr327Pro)
NM_000202.8(IDS):c.982_996del (p.Ile328_Thr332del) rs2124020031
NM_000202.8(IDS):c.984del (p.Ile329fs) rs1602734459
NM_000202.8(IDS):c.996del (p.Ser333fs)
NM_000202.8(IDS):c.998C>A (p.Ser333Ter) rs104894853
NM_000202.8(IDS):c.998C>G (p.Ser333Trp) rs104894853
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853

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