ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-II

Minimum submission review status: Collection method:
Minimum conflict level:
Total variants: 1361
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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.418+12T>C rs470986 0.00736
NM_000202.8(IDS):c.1269C>T (p.Pro423=) rs61736890 0.00513
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.123C>G (p.Leu41=) rs146904022 0.00115
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087 0.00115
NM_000202.8(IDS):c.1181-13C>T rs188486717 0.00081
NM_000202.8(IDS):c.336C>T (p.His112=) rs138687038 0.00073
NM_000202.8(IDS):c.884A>G (p.Lys295Arg) rs113993953 0.00068
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245 0.00063
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.104A>G (p.Asp35Gly) rs144081417 0.00020
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.1490A>G (p.Tyr497Cys) rs142248439 0.00015
NM_000202.8(IDS):c.41G>A (p.Gly14Asp) rs373389352 0.00015
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.103+7C>T rs369735286 0.00011
NM_000202.8(IDS):c.236C>G (p.Ala79Gly) rs368513342 0.00011
NM_000202.8(IDS):c.957C>T (p.Asp319=) rs782488487 0.00011
NM_000202.8(IDS):c.1499C>T (p.Thr500Ile) rs372205468 0.00010
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) rs782445506 0.00010
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166 0.00009
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.304C>T (p.Leu102=) rs782790524 0.00008
NM_000202.8(IDS):c.1085A>G (p.Tyr362Cys) rs141037133 0.00007
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021 0.00007
NM_000202.8(IDS):c.421A>T (p.Ile141Leu) rs781999172 0.00007
NM_000202.8(IDS):c.234T>C (p.Phe78=) rs782290556 0.00006
NM_000202.8(IDS):c.357C>T (p.Ile119=) rs782362742 0.00006
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.1248G>A (p.Leu416=) rs1306764023 0.00005
NM_000202.8(IDS):c.23G>T (p.Arg8Leu) rs782621858 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.104-9C>G rs371864469 0.00004
NM_000202.8(IDS):c.1123G>A (p.Glu375Lys) rs782634993 0.00004
NM_000202.8(IDS):c.1290G>A (p.Glu430=) rs140633427 0.00004
NM_000202.8(IDS):c.246A>G (p.Ala82=) rs1447255384 0.00004
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 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.58G>C (p.Val20Leu) rs11549010 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.1270G>A (p.Val424Ile) rs373820890 0.00003
NM_000202.8(IDS):c.1284C>T (p.His428=) rs782163574 0.00003
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys) rs782340858 0.00003
NM_000202.8(IDS):c.1373G>A (p.Arg458His) rs782697859 0.00003
NM_000202.8(IDS):c.27C>T (p.Gly9=) rs782412902 0.00003
NM_000202.8(IDS):c.418+11A>G rs374708997 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.103+13C>G rs782012915 0.00002
NM_000202.8(IDS):c.103+6G>A rs781956472 0.00002
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.1181-14G>A rs200950988 0.00002
NM_000202.8(IDS):c.1181-15C>T rs199965368 0.00002
NM_000202.8(IDS):c.1222C>T (p.Pro408Ser) rs782657740 0.00002
NM_000202.8(IDS):c.1226C>T (p.Thr409Met) rs782543505 0.00002
NM_000202.8(IDS):c.1261C>T (p.Arg421Cys) rs781825818 0.00002
NM_000202.8(IDS):c.1347G>A (p.Glu449=) rs782690963 0.00002
NM_000202.8(IDS):c.1478G>A (p.Arg493His) rs782347729 0.00002
NM_000202.8(IDS):c.1479C>T (p.Arg493=) rs1259829678 0.00002
NM_000202.8(IDS):c.147C>T (p.Pro49=) rs1557340415 0.00002
NM_000202.8(IDS):c.1642T>C (p.Leu548=) rs1557337560 0.00002
NM_000202.8(IDS):c.177G>A (p.Val59=) rs782743276 0.00002
NM_000202.8(IDS):c.189T>C (p.Asn63=) rs782083523 0.00002
NM_000202.8(IDS):c.240+13A>G rs782621152 0.00002
NM_000202.8(IDS):c.309C>T (p.Tyr103=) rs1174495581 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.97A>T (p.Thr33Ser) rs782158763 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.114C>T (p.Asn38=) rs149512799 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.1181-19C>G rs1557337665 0.00001
NM_000202.8(IDS):c.1184G>C (p.Arg395Thr) rs782475200 0.00001
NM_000202.8(IDS):c.1257A>G (p.Pro419=) rs782066597 0.00001
NM_000202.8(IDS):c.1285G>A (p.Val429Ile) rs781916566 0.00001
NM_000202.8(IDS):c.1293G>C (p.Leu431=) rs782203657 0.00001
NM_000202.8(IDS):c.1303G>T (p.Gly435Cys) rs2089307002 0.00001
NM_000202.8(IDS):c.1327C>A (p.Arg443=) rs199422227 0.00001
NM_000202.8(IDS):c.1338C>T (p.Asp446=) rs2089306604 0.00001
NM_000202.8(IDS):c.1353G>A (p.Pro451=) rs920711197 0.00001
NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys) rs1233392388 0.00001
NM_000202.8(IDS):c.13C>T (p.Arg5Trp) rs141900718 0.00001
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946 0.00001
NM_000202.8(IDS):c.1422G>A (p.Gln474=) rs1569560371 0.00001
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys) rs782190885 0.00001
NM_000202.8(IDS):c.1483A>G (p.Ile495Val) rs782228221 0.00001
NM_000202.8(IDS):c.1500T>C (p.Thr500=) rs1602725629 0.00001
NM_000202.8(IDS):c.1536T>A (p.Ala512=) rs782673868 0.00001
NM_000202.8(IDS):c.1560G>A (p.Gly520=) rs782724941 0.00001
NM_000202.8(IDS):c.1617C>T (p.Ser539=) rs782717602 0.00001
NM_000202.8(IDS):c.1621G>T (p.Gly541Cys) rs145056272 0.00001
NM_000202.8(IDS):c.1623T>G (p.Gly541=) rs1557337565 0.00001
NM_000202.8(IDS):c.1626A>C (p.Gly542=) rs975572043 0.00001
NM_000202.8(IDS):c.172C>T (p.Leu58=) rs1267973079 0.00001
NM_000202.8(IDS):c.18C>T (p.Thr6=) rs369954416 0.00001
NM_000202.8(IDS):c.237G>A (p.Ala79=) rs782183418 0.00001
NM_000202.8(IDS):c.240+12A>G rs2089503473 0.00001
NM_000202.8(IDS):c.252C>T (p.Cys84=) rs1557340286 0.00001
NM_000202.8(IDS):c.258G>A (p.Pro86=) rs1557340277 0.00001
NM_000202.8(IDS):c.264C>T (p.Arg88=) rs375362189 0.00001
NM_000202.8(IDS):c.285G>A (p.Arg95=) rs782779732 0.00001
NM_000202.8(IDS):c.289C>A (p.Pro97Thr) rs1557340273 0.00001
NM_000202.8(IDS):c.28C>T (p.Leu10Phe) rs2067278577 0.00001
NM_000202.8(IDS):c.352A>T (p.Thr118Ser) rs2089496220 0.00001
NM_000202.8(IDS):c.37C>T (p.Leu13=) rs782272803 0.00001
NM_000202.8(IDS):c.418+14T>C rs781915630 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.49C>T (p.Leu17=) rs781834400 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.51G>C (p.Leu17=) rs1352041987 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.57C>G (p.Ser19=) rs1213093718 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.92A>G (p.Asn31Ser) rs184190241 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.98C>T (p.Thr33Ile) rs1557340562 0.00001
GRCh38/hg38 Xq27.3-28(chrX:143293592-149749234)
GRCh38/hg38 Xq27.3-28(chrX:145728205-150464413)x1
NC_000023.10:g.(?_148564257)_(148586687_?)del
NC_000023.10:g.(?_148564257)_(148586687_?)dup
NC_000023.10:g.(?_148564267)_(148586894_?)del
NC_000023.10:g.(?_148564277)_(148564769_?)del
NC_000023.10:g.(?_148564277)_(148564769_?)dup
NC_000023.10:g.(?_148564277)_(148586667_?)del
NC_000023.10:g.(?_148564277)_(148586667_?)dup
NC_000023.10:g.(?_148571835)_(148582578_?)del
NC_000023.10:g.(?_148577857)_(148579858_?)del
NC_000023.10:g.(?_148578704)_(148586687_?)del
NC_000023.10:g.(?_148579618)_(148586687_?)del
NC_000023.10:g.(?_148579628)_(148579848_?)dup
NC_000023.10:g.(?_148582460)_(148586667_?)dup
NC_000023.11:g.(?_149478764)_(149505354_?)del
NM_000202.5(IDS):c.[1464G>T,1466G>C]
NM_000202.6(IDS):c.[1403G>A;1394A>T]
NM_000202.7(IDS):c.-217_103del320 rs1557340558
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.101C>A (p.Thr34Lys) rs1156672457
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.102_103delinsT (p.Asp35fs)
NM_000202.8(IDS):c.103+11C>T rs2089513974
NM_000202.8(IDS):c.103+12G>A rs782156440
NM_000202.8(IDS):c.103+14C>T rs2520909336
NM_000202.8(IDS):c.103+19C>T rs2520909276
NM_000202.8(IDS):c.103+1G>A
NM_000202.8(IDS):c.103+2T>A
NM_000202.8(IDS):c.103+5C>T rs782108228
NM_000202.8(IDS):c.103+9C>T rs1163534317
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.103G>C (p.Asp35His) rs2089514224
NM_000202.8(IDS):c.104-10T>A rs2520902885
NM_000202.8(IDS):c.104-16C>G rs1557340437
NM_000202.8(IDS):c.104-16C>T rs1557340437
NM_000202.8(IDS):c.104-17C>T rs2520902983
NM_000202.8(IDS):c.104-19G>A rs2520903026
NM_000202.8(IDS):c.104-1G>A
NM_000202.8(IDS):c.104-1G>C
NM_000202.8(IDS):c.104-1_104delinsT rs2089505743
NM_000202.8(IDS):c.104-2A>C rs2089505773
NM_000202.8(IDS):c.104-2A>G rs2089505773
NM_000202.8(IDS):c.104-3T>G
NM_000202.8(IDS):c.104-4G>A rs2124066481
NM_000202.8(IDS):c.104-7T>C
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.106G>A (p.Ala36Thr) rs782736039
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.108T>G (p.Ala36=) rs2089505645
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.1111C>T (p.Pro371Ser)
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.111_112insGA (p.Asn38fs) rs2520902533
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.113dup (p.Asn38fs)
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.1144G>A (p.Asp382Asn)
NM_000202.8(IDS):c.1144G>T (p.Asp382Tyr)
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.115_118dup (p.Leu40fs)
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.116T>A (p.Val39Asp) rs2520902410
NM_000202.8(IDS):c.1170del (p.Met391fs) rs2520782845
NM_000202.8(IDS):c.1177C>G (p.Pro393Ala) rs782185756
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del) rs2089505317
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.1181-15C>A
NM_000202.8(IDS):c.1181-1G>A rs864622777
NM_000202.8(IDS):c.1181-1G>C rs864622777
NM_000202.8(IDS):c.1181-2A>G
NM_000202.8(IDS):c.1181-5_1186del
NM_000202.8(IDS):c.1181_1192del (p.Gly394_Met398delinsVal)
NM_000202.8(IDS):c.1183A>G (p.Arg395Gly)
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.1188A>G (p.Gln396=) rs2123995158
NM_000202.8(IDS):c.1188del (p.Gln396fs) rs2520758970
NM_000202.8(IDS):c.1191C>T (p.Ser397=) rs2520758893
NM_000202.8(IDS):c.1191del (p.Met398fs) rs2089308367
NM_000202.8(IDS):c.1196A>T (p.Asp399Val) rs1557337663
NM_000202.8(IDS):c.1197C>T (p.Asp399=) rs2520758772
NM_000202.8(IDS):c.1197_1250dup (p.Leu416_Gln417insHisLeuValGluLeuValSerLeuPheProThrLeuAlaGlyLeuAlaGlyLeu)
NM_000202.8(IDS):c.1198dup (p.Leu400fs)
NM_000202.8(IDS):c.1199T>C (p.Leu400Pro) rs2520758743
NM_000202.8(IDS):c.119T>C (p.Leu40Pro) rs2520902336
NM_000202.8(IDS):c.1202_1203del (p.Val401fs)
NM_000202.8(IDS):c.1203G>A (p.Val401=) rs2520758686
NM_000202.8(IDS):c.1204G>A (p.Glu402Lys)
NM_000202.8(IDS):c.1207C>G (p.Leu403Val) rs2520758659
NM_000202.8(IDS):c.1208T>G (p.Leu403Arg)
NM_000202.8(IDS):c.1209del (p.Val404fs)
NM_000202.8(IDS):c.1212G>C (p.Val404=) rs2123995105
NM_000202.8(IDS):c.1212_1215dup (p.Leu406fs)
NM_000202.8(IDS):c.1214C>T (p.Ser405Phe) rs2089308207
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.1222C>G (p.Pro408Ala) rs782657740
NM_000202.8(IDS):c.1222delinsTA (p.Pro408fs)
NM_000202.8(IDS):c.1224_1225insGGG (p.Pro408_Thr409insGly)
NM_000202.8(IDS):c.1224del (p.Thr409fs)
NM_000202.8(IDS):c.1224dup (p.Thr409fs) rs2123995054
NM_000202.8(IDS):c.1226C>G (p.Thr409Arg)
NM_000202.8(IDS):c.1229T>C (p.Leu410Pro)
NM_000202.8(IDS):c.1229del (p.Leu410fs)
NM_000202.8(IDS):c.1229dup (p.Ala411fs)
NM_000202.8(IDS):c.122T>C (p.Leu41Pro)
NM_000202.8(IDS):c.1234G>T (p.Gly412Ter) rs2089307950
NM_000202.8(IDS):c.1234_1460del (p.Gly412fs)
NM_000202.8(IDS):c.1239_1240insCT (p.Ala414fs) rs2089307879
NM_000202.8(IDS):c.123del (p.Ile42fs)
NM_000202.8(IDS):c.1248G>T (p.Leu416=) rs1306764023
NM_000202.8(IDS):c.1249C>T (p.Gln417Ter) rs2123994961
NM_000202.8(IDS):c.124A>G (p.Ile42Val) rs2089505177
NM_000202.8(IDS):c.124ATC[1] (p.Ile43del)
NM_000202.8(IDS):c.124ATC[4] (p.Ile43_Val44insIleIle)
NM_000202.8(IDS):c.1253T>C (p.Val418Ala) rs2520757984
NM_000202.8(IDS):c.1254T>G (p.Val418=) rs1557337653
NM_000202.8(IDS):c.1254del (p.Pro419fs) rs2123994946
NM_000202.8(IDS):c.1255C>A (p.Pro419Thr) rs2520757904
NM_000202.8(IDS):c.1258C>A (p.Pro420Thr)
NM_000202.8(IDS):c.1259C>T (p.Pro420Leu)
NM_000202.8(IDS):c.1259del (p.Pro420fs) rs2089307675
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
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.1265G>T (p.Cys422Phe) rs886044835
NM_000202.8(IDS):c.1266C>A (p.Cys422Ter)
NM_000202.8(IDS):c.1267C>T (p.Pro423Ser)
NM_000202.8(IDS):c.1268_1269dup (p.Val424fs)
NM_000202.8(IDS):c.1269del (p.Val424fs) rs2123994875
NM_000202.8(IDS):c.1269dup (p.Val424fs)
NM_000202.8(IDS):c.1270_1271del (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.1272del (p.Pro425fs) rs2123994828
NM_000202.8(IDS):c.1274_1277del (p.Pro425fs)
NM_000202.8(IDS):c.1274del (p.Pro425fs)
NM_000202.8(IDS):c.1275T>A (p.Pro425=) rs2520757507
NM_000202.8(IDS):c.1277C>G (p.Ser426Ter)
NM_000202.8(IDS):c.1277_1450del (p.Ser426_Asp484delinsTyr) rs2520754861
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.1293G>A (p.Leu431=) rs782203657
NM_000202.8(IDS):c.1294T>C (p.Cys432Arg)
NM_000202.8(IDS):c.1294_1295dup (p.Arg433fs)
NM_000202.8(IDS):c.1294_1298dup (p.Arg433fs)
NM_000202.8(IDS):c.1295G>A (p.Cys432Tyr)
NM_000202.8(IDS):c.1295G>T (p.Cys432Phe) rs2520757280
NM_000202.8(IDS):c.1296C>A (p.Cys432Ter)
NM_000202.8(IDS):c.1296del (p.Leu431_Cys432insTer)
NM_000202.8(IDS):c.1297A>G (p.Arg433Gly) rs2089307094
NM_000202.8(IDS):c.1298_1306del (p.Arg433_Gly435del)
NM_000202.8(IDS):c.129C>T (p.Ile43=) rs2124066238
NM_000202.8(IDS):c.12C>G (p.Pro4=) rs2520911105
NM_000202.8(IDS):c.12C>T (p.Pro4=) rs2520911105
NM_000202.8(IDS):c.12_13del (p.Arg5fs)
NM_000202.8(IDS):c.1300G>A (p.Glu434Lys) rs2520757198
NM_000202.8(IDS):c.1300_1306dup (p.Lys436fs)
NM_000202.8(IDS):c.1304G>A (p.Gly435Asp)
NM_000202.8(IDS):c.1307dup (p.Asn437fs)
NM_000202.8(IDS):c.130del (p.Val44fs)
NM_000202.8(IDS):c.1312del (p.Leu438fs)
NM_000202.8(IDS):c.1316del (p.Leu439fs) rs2123994709
NM_000202.8(IDS):c.1317G>T (p.Leu439=) rs2520756927
NM_000202.8(IDS):c.1319dup (p.His441fs)
NM_000202.8(IDS):c.1326dup (p.Arg443fs)
NM_000202.8(IDS):c.1327C>G (p.Arg443Gly) rs199422227
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.1333C>T (p.Arg445Cys) rs929376875
NM_000202.8(IDS):c.1334G>A (p.Arg445His) rs782371096
NM_000202.8(IDS):c.1335T>C (p.Arg445=) rs2089306640
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.1341G>T (p.Leu447Phe)
NM_000202.8(IDS):c.1344del (p.Glu449fs)
NM_000202.8(IDS):c.1345_1349del (p.Glu449fs) rs2520756537
NM_000202.8(IDS):c.1348del (p.Asp450fs)
NM_000202.8(IDS):c.1349_1364del (p.Asp450fs)
NM_000202.8(IDS):c.134A>G (p.Asp45Gly) rs2520901934
NM_000202.8(IDS):c.134A>T (p.Asp45Val)
NM_000202.8(IDS):c.1350T>A (p.Asp450Glu) rs2123994624
NM_000202.8(IDS):c.1350del (p.Pro451fs) rs2089306467
NM_000202.8(IDS):c.1352C>G (p.Pro451Arg) rs369603623
NM_000202.8(IDS):c.1352C>T (p.Pro451Leu)
NM_000202.8(IDS):c.1353G>C (p.Pro451=) rs920711197
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>A (p.Tyr452Ter) rs2520756362
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.1364G>T (p.Gly455Val) rs2520756235
NM_000202.8(IDS):c.136G>A (p.Asp46Asn) rs2089504816
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr) rs2089504816
NM_000202.8(IDS):c.1371C>G (p.Pro457=) rs2520756150
NM_000202.8(IDS):c.1375G>T (p.Glu459Ter) rs2123994508
NM_000202.8(IDS):c.1377del (p.Glu459fs)
NM_000202.8(IDS):c.1378C>T (p.Leu460=) rs2520756010
NM_000202.8(IDS):c.137A>C (p.Asp46Ala)
NM_000202.8(IDS):c.1380G>A (p.Leu460=) rs782063057
NM_000202.8(IDS):c.1387T>C (p.Tyr463His) rs1365886210
NM_000202.8(IDS):c.1389T>C (p.Tyr463=) rs2520755856
NM_000202.8(IDS):c.138C>A (p.Asp46Glu) rs2520901887
NM_000202.8(IDS):c.138C>T (p.Asp46=)
NM_000202.8(IDS):c.1390A>G (p.Ser464Gly)
NM_000202.8(IDS):c.1390_1398del (p.Ser464_Tyr466del)
NM_000202.8(IDS):c.1390dup (p.Ser464fs)
NM_000202.8(IDS):c.1392C>G (p.Ser464Arg)
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter) rs864622772
NM_000202.8(IDS):c.1394A>C (p.Gln465Pro)
NM_000202.8(IDS):c.1394A>T (p.Gln465Leu) rs113993951
NM_000202.8(IDS):c.1395G>A (p.Gln465=) rs2123994427
NM_000202.8(IDS):c.1396_1404dup (p.Arg468_Pro469insTyrProArg)
NM_000202.8(IDS):c.1398T>A (p.Tyr466Ter)
NM_000202.8(IDS):c.13C>A (p.Arg5=) rs141900718
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.1402del (p.Arg468fs) rs2123994397
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.1405C>G (p.Pro469Ala)
NM_000202.8(IDS):c.1406C>A (p.Pro469His)
NM_000202.8(IDS):c.1406C>G (p.Pro469Arg) rs2123994360
NM_000202.8(IDS):c.1406C>T (p.Pro469Leu) rs2123994360
NM_000202.8(IDS):c.1409C>T (p.Ser470Leu) rs868934036
NM_000202.8(IDS):c.1409_1410del (p.Pro469_Ser470insTer)
NM_000202.8(IDS):c.140T>C (p.Leu47Pro)
NM_000202.8(IDS):c.1411G>A (p.Asp471Asn) rs2089305507
NM_000202.8(IDS):c.1411G>C (p.Asp471His) rs2089305507
NM_000202.8(IDS):c.1411_1412del (p.Asp471fs)
NM_000202.8(IDS):c.1416C>T (p.Ile472=) rs2123994324
NM_000202.8(IDS):c.1417C>T (p.Pro473Ser) rs2123994315
NM_000202.8(IDS):c.1418C>T (p.Pro473Leu) rs2089305403
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.1425G>A (p.Trp475Ter) rs199422230
NM_000202.8(IDS):c.1426_1437del (p.Asn476_Lys479del) rs2089305217
NM_000202.8(IDS):c.142C>T (p.Arg48Cys) rs1412895796
NM_000202.8(IDS):c.1431del (p.Asp478fs) rs2089305275
NM_000202.8(IDS):c.1432G>A (p.Asp478Asn)
NM_000202.8(IDS):c.1432G>C (p.Asp478His)
NM_000202.8(IDS):c.1432G>T (p.Asp478Tyr)
NM_000202.8(IDS):c.1433A>G (p.Asp478Gly) rs864622773
NM_000202.8(IDS):c.1433del (p.Asp478fs)
NM_000202.8(IDS):c.1434C>T (p.Asp478=) rs2520755159
NM_000202.8(IDS):c.1436A>G (p.Lys479Arg)
NM_000202.8(IDS):c.1436_1457dup (p.Ile487fs) rs2123994213
NM_000202.8(IDS):c.1438C>T (p.Pro480Ser)
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>A (p.Arg48His)
NM_000202.8(IDS):c.143G>C (p.Arg48Pro) rs1569560528
NM_000202.8(IDS):c.1440G>A (p.Pro480=) rs2089305146
NM_000202.8(IDS):c.1442delinsTC (p.Ser481fs) rs2123994237
NM_000202.8(IDS):c.1443T>C (p.Ser481=) rs2520754969
NM_000202.8(IDS):c.1444_1445dup (p.Leu482fs)
NM_000202.8(IDS):c.1445T>G (p.Leu482Ter) rs2520754916
NM_000202.8(IDS):c.1447A>G (p.Lys483Glu) rs2123994225
NM_000202.8(IDS):c.1452T>C (p.Asp484=) rs2520754811
NM_000202.8(IDS):c.1453A>T (p.Ile485Leu)
NM_000202.8(IDS):c.1453dup (p.Ile485fs)
NM_000202.8(IDS):c.1454T>A (p.Ile485Lys) rs782430567
NM_000202.8(IDS):c.1454T>C (p.Ile485Thr) rs782430567
NM_000202.8(IDS):c.1454T>G (p.Ile485Arg)
NM_000202.8(IDS):c.1454_1455del (p.Ile485fs) rs2089305017
NM_000202.8(IDS):c.1455A>G (p.Ile485Met)
NM_000202.8(IDS):c.145_161delinsT (p.Pro49fs)
NM_000202.8(IDS):c.1462_1463insG (p.Met488fs)
NM_000202.8(IDS):c.1463T>G (p.Met488Arg)
NM_000202.8(IDS):c.1463del (p.Met488fs) rs869025307
NM_000202.8(IDS):c.1464G>T (p.Met488Ile) rs104894862
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.1469A>C (p.Tyr490Ser)
NM_000202.8(IDS):c.1470T>A (p.Tyr490Ter) rs2123994176
NM_000202.8(IDS):c.1470T>G (p.Tyr490Ter) rs2123994176
NM_000202.8(IDS):c.1472C>A (p.Ser491Tyr) rs2520754446
NM_000202.8(IDS):c.1472C>T (p.Ser491Phe)
NM_000202.8(IDS):c.1478G>C (p.Arg493Pro) rs782347729
NM_000202.8(IDS):c.147C>G (p.Pro49=) rs1557340415
NM_000202.8(IDS):c.147del (p.Ser50fs)
NM_000202.8(IDS):c.1480_1481insTATTCCATATACTATATGGAATACTATATAGGTATT (p.Thr494delinsIlePheHisIleLeuTyrGlyIleLeuTyrArgTyrSer)
NM_000202.8(IDS):c.1481C>T (p.Thr494Ile) rs2520754318
NM_000202.8(IDS):c.1482C>T (p.Thr494=) rs2123994147
NM_000202.8(IDS):c.1482_1488del (p.Asp496fs)
NM_000202.8(IDS):c.1484_1485insTA (p.Asp496fs)
NM_000202.8(IDS):c.1489_1490insCTAA (p.Tyr497fs)
NM_000202.8(IDS):c.1489dup (p.Tyr497fs)
NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs) rs2089304532
NM_000202.8(IDS):c.1493G>C (p.Arg498Thr) rs1557337595
NM_000202.8(IDS):c.1494del (p.Arg498fs) rs2520754068
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter) rs2089304408
NM_000202.8(IDS):c.1498A>G (p.Thr500Ala) rs2520753971
NM_000202.8(IDS):c.1500T>A (p.Thr500=) rs1602725629
NM_000202.8(IDS):c.1503G>C (p.Val501=) rs2520753803
NM_000202.8(IDS):c.1504T>A (p.Trp502Arg) rs2089304297
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly) rs2089304297
NM_000202.8(IDS):c.1505G>A (p.Trp502Ter) rs199422228
NM_000202.8(IDS):c.1505G>C (p.Trp502Ser) rs199422228
NM_000202.8(IDS):c.1506G>A (p.Trp502Ter) rs2124648374
NM_000202.8(IDS):c.1506G>C (p.Trp502Cys)
NM_000202.8(IDS):c.1506G>T (p.Trp502Cys) rs2124648374
NM_000202.8(IDS):c.1508T>A (p.Val503Asp) rs398123248
NM_000202.8(IDS):c.1508T>C (p.Val503Ala)
NM_000202.8(IDS):c.1509del (p.Gly504fs)
NM_000202.8(IDS):c.1511del (p.Gly504fs)
NM_000202.8(IDS):c.1512C>T (p.Gly504=)
NM_000202.8(IDS):c.151C>T (p.Leu51=) rs1340608360
NM_000202.8(IDS):c.1525G>T (p.Glu509Ter)
NM_000202.8(IDS):c.152_236del (p.Leu51fs) rs2124065699
NM_000202.8(IDS):c.1531C>T (p.Leu511=) rs782272275
NM_000202.8(IDS):c.1533A>G (p.Leu511=)
NM_000202.8(IDS):c.1536T>C (p.Ala512=) rs782673868
NM_000202.8(IDS):c.1539C>T (p.Asn513=) rs1557337587
NM_000202.8(IDS):c.1548C>T (p.Asp516=) rs782433387
NM_000202.8(IDS):c.1556C>T (p.Ala519Val)
NM_000202.8(IDS):c.155del (p.Gly52fs)
NM_000202.8(IDS):c.1561G>A (p.Glu521Lys) rs2124648301
NM_000202.8(IDS):c.1561G>T (p.Glu521Ter)
NM_000202.8(IDS):c.1561del (p.Glu521fs)
NM_000202.8(IDS):c.1561dup (p.Glu521fs) rs2124648304
NM_000202.8(IDS):c.1562A>G (p.Glu521Gly)
NM_000202.8(IDS):c.1562A>T (p.Glu521Val)
NM_000202.8(IDS):c.1563A>T (p.Glu521Asp) rs1602725543
NM_000202.8(IDS):c.1563del (p.Glu521fs)
NM_000202.8(IDS):c.1564C>T (p.Leu522=) rs2124648290
NM_000202.8(IDS):c.1565T>C (p.Leu522Pro)
NM_000202.8(IDS):c.1567dup (p.Tyr523fs)
NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys) rs2089303696
NM_000202.8(IDS):c.1568_1581dup (p.Asp528fs)
NM_000202.8(IDS):c.156C>T (p.Gly52=) rs2089504569
NM_000202.8(IDS):c.1576del (p.Asp526fs)
NM_000202.8(IDS):c.1583A>T (p.Asp528Val)
NM_000202.8(IDS):c.1584C>T (p.Asp528=) rs2124648280
NM_000202.8(IDS):c.1585C>T (p.Pro529Ser)
NM_000202.8(IDS):c.1587A>G (p.Pro529=) rs1433886820
NM_000202.8(IDS):c.1587del (p.Leu530fs)
NM_000202.8(IDS):c.1588T>C (p.Leu530=) rs2089303537
NM_000202.8(IDS):c.1589T>A (p.Leu530Ter) rs2124648259
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.15G>A (p.Arg5=) rs2124069552
NM_000202.8(IDS):c.15G>T (p.Arg5=) rs2124069552
NM_000202.8(IDS):c.1600A>C (p.Asn534His)
NM_000202.8(IDS):c.1601A>T (p.Asn534Ile)
NM_000202.8(IDS):c.1604T>C (p.Met535Thr)
NM_000202.8(IDS):c.1608T>A (p.Tyr536Ter)
NM_000202.8(IDS):c.1608T>C (p.Tyr536=) rs2089303285
NM_000202.8(IDS):c.160T>G (p.Tyr54Asp)
NM_000202.8(IDS):c.1610A>G (p.Asn537Ser) rs2089303240
NM_000202.8(IDS):c.1611del (p.Asn537fs)
NM_000202.8(IDS):c.161dup (p.Tyr54Ter)
NM_000202.8(IDS):c.1629T>C (p.Asp543=) rs782379005
NM_000202.8(IDS):c.162T>A (p.Tyr54Ter) rs141088021
NM_000202.8(IDS):c.162T>G (p.Tyr54Ter)
NM_000202.8(IDS):c.162del (p.Cys53_Tyr54insTer)
NM_000202.8(IDS):c.1630C>A (p.Leu544Ile) rs2520751980
NM_000202.8(IDS):c.1644G>T (p.Leu548Phe)
NM_000202.8(IDS):c.1649C>A (p.Pro550His) rs782041174
NM_000202.8(IDS):c.1649C>G (p.Pro550Arg) rs782041174
NM_000202.8(IDS):c.165G>A (p.Gly55=) rs2520901539
NM_000202.8(IDS):c.166G>A (p.Asp56Asn) rs781919816
NM_000202.8(IDS):c.166del (p.Asp56fs)
NM_000202.8(IDS):c.171G>A (p.Lys57=) rs2520901481
NM_000202.8(IDS):c.172del (p.Leu58fs) rs2520901458
NM_000202.8(IDS):c.181T>C (p.Ser61Pro) rs113993955
NM_000202.8(IDS):c.182C>A (p.Ser61Tyr)
NM_000202.8(IDS):c.182C>T (p.Ser61Phe) rs2124065955
NM_000202.8(IDS):c.182_189del (p.Ser61fs)
NM_000202.8(IDS):c.183C>A (p.Ser61=) rs2124065941
NM_000202.8(IDS):c.183C>T (p.Ser61=) rs2124065941
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.18C>G (p.Thr6=) rs369954416
NM_000202.8(IDS):c.191T>A (p.Ile64Asn) rs781997631
NM_000202.8(IDS):c.196C>T (p.Gln66Ter) rs1557340403
NM_000202.8(IDS):c.198A>G (p.Gln66=) rs1557340398
NM_000202.8(IDS):c.1A>T (p.Met1Leu)
NM_000202.8(IDS):c.200T>C (p.Leu67Pro) rs2520901143
NM_000202.8(IDS):c.200T>G (p.Leu67Arg)
NM_000202.8(IDS):c.203C>A (p.Ala68Glu)
NM_000202.8(IDS):c.205T>A (p.Ser69Thr)
NM_000202.8(IDS):c.205_206insAAACTGGCAT (p.Ser69Ter) rs2124065847
NM_000202.8(IDS):c.207C>T (p.Ser69=) rs2089503984
NM_000202.8(IDS):c.208dup (p.His70fs) rs797044671
NM_000202.8(IDS):c.212G>A (p.Ser71Asn) rs113993954
NM_000202.8(IDS):c.212G>T (p.Ser71Ile) rs113993954
NM_000202.8(IDS):c.213C>A (p.Ser71Arg) rs2520900915
NM_000202.8(IDS):c.213C>G (p.Ser71Arg)
NM_000202.8(IDS):c.213C>T (p.Ser71=) rs2520900915
NM_000202.8(IDS):c.213_225del (p.Ser71fs)
NM_000202.8(IDS):c.214CTC[1] (p.Leu73del) rs2520900881
NM_000202.8(IDS):c.215T>C (p.Leu72Pro)
NM_000202.8(IDS):c.217C>T (p.Leu73Phe)
NM_000202.8(IDS):c.219del (p.Phe74fs)
NM_000202.8(IDS):c.21_22insG (p.Arg8fs)
NM_000202.8(IDS):c.222C>T (p.Phe74=) rs2520900832
NM_000202.8(IDS):c.223C>T (p.Gln75Ter) rs2089503778
NM_000202.8(IDS):c.225G>A (p.Gln75=)
NM_000202.8(IDS):c.227A>G (p.Asn76Ser) rs2520900734
NM_000202.8(IDS):c.22C>A (p.Arg8=) rs1602750610
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.231C>T (p.Ala77=) rs1602749217
NM_000202.8(IDS):c.231_236del (p.Phe78_Ala79del)
NM_000202.8(IDS):c.236C>A (p.Ala79Glu)
NM_000202.8(IDS):c.236C>T (p.Ala79Val) rs368513342
NM_000202.8(IDS):c.236del (p.Ala79fs)
NM_000202.8(IDS):c.237G>C (p.Ala79=)
NM_000202.8(IDS):c.238C>A (p.Gln80Lys)
NM_000202.8(IDS):c.238C>T (p.Gln80Ter) rs1569560527
NM_000202.8(IDS):c.239A>G (p.Gln80Arg) rs2520900502
NM_000202.8(IDS):c.240+11del rs1557340384
NM_000202.8(IDS):c.240+14C>T rs2520900368
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.240+20G>A rs2089503338
NM_000202.8(IDS):c.240+2T>C rs1602749181
NM_000202.8(IDS):c.240+2_240+3insTCCCAGA
NM_000202.8(IDS):c.240+2_240+3insTCTGGGA rs2089503537
NM_000202.8(IDS):c.240+3A>G rs2124065632
NM_000202.8(IDS):c.240+7C>T rs2124065624
NM_000202.8(IDS):c.241-10T>G
NM_000202.8(IDS):c.241-14C>G rs1557340289
NM_000202.8(IDS):c.241-16T>C rs2520897385
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.241-3C>G rs2124063783
NM_000202.8(IDS):c.241-4A>G rs2089497765
NM_000202.8(IDS):c.241-5A>G rs113993952
NM_000202.8(IDS):c.241-5A>T rs113993952
NM_000202.8(IDS):c.241-6T>G rs2089497826
NM_000202.8(IDS):c.241-7C>T rs2124063828
NM_000202.8(IDS):c.241-9C>G rs2089497858
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>A (p.Ala82Glu)
NM_000202.8(IDS):c.245C>T (p.Ala82Val)
NM_000202.8(IDS):c.247del (p.Val83fs)
NM_000202.8(IDS):c.248T>C (p.Val83Ala)
NM_000202.8(IDS):c.248T>G (p.Val83Gly) rs1569560525
NM_000202.8(IDS):c.248del (p.Val83fs) rs2089497718
NM_000202.8(IDS):c.251G>A (p.Cys84Tyr)
NM_000202.8(IDS):c.251G>C (p.Cys84Ser)
NM_000202.8(IDS):c.252C>A (p.Cys84Ter) rs1557340286
NM_000202.8(IDS):c.252C>G (p.Cys84Trp) 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.254C>T (p.Ala85Val)
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>A (p.Ser87Asn)
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.265G>A (p.Val89Ile)
NM_000202.8(IDS):c.265G>T (p.Val89Phe)
NM_000202.8(IDS):c.268T>C (p.Ser90Pro)
NM_000202.8(IDS):c.275T>C (p.Leu92Pro) rs2089497300
NM_000202.8(IDS):c.275T>G (p.Leu92Arg)
NM_000202.8(IDS):c.281G>A (p.Gly94Asp)
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.285_287del (p.Arg96del) rs2520896826
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.290C>G (p.Pro97Arg)
NM_000202.8(IDS):c.292G>A (p.Asp98Asn)
NM_000202.8(IDS):c.292del (p.Asp98fs) rs2520896777
NM_000202.8(IDS):c.298dup (p.Thr100fs)
NM_000202.8(IDS):c.2T>C (p.Met1Thr) rs2124069617
NM_000202.8(IDS):c.300C>T (p.Thr100=) rs2124063502
NM_000202.8(IDS):c.301C>A (p.Arg101Ser)
NM_000202.8(IDS):c.305T>C (p.Leu102Pro) rs1557340261
NM_000202.8(IDS):c.305T>G (p.Leu102Arg)
NM_000202.8(IDS):c.305del (p.Leu102fs) rs2089496744
NM_000202.8(IDS):c.306G>A (p.Leu102=) rs2520896481
NM_000202.8(IDS):c.307T>G (p.Tyr103Asp) rs2089496667
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.30dup (p.Leu11fs) rs2520910813
NM_000202.8(IDS):c.310G>A (p.Asp104Asn)
NM_000202.8(IDS):c.311A>T (p.Asp104Val)
NM_000202.8(IDS):c.312C>T (p.Asp104=) rs2124063377
NM_000202.8(IDS):c.314_317dup (p.Ser107fs) rs797044703
NM_000202.8(IDS):c.314_339del (p.Phe105fs)
NM_000202.8(IDS):c.315C>T (p.Phe105=) rs2124063363
NM_000202.8(IDS):c.315dup (p.Asn106fs)
NM_000202.8(IDS):c.31C>T (p.Leu11Phe) rs1557340600
NM_000202.8(IDS):c.320_322del (p.Ser107del)
NM_000202.8(IDS):c.322T>G (p.Tyr108Asp) rs2520896190
NM_000202.8(IDS):c.323A>C (p.Tyr108Ser)
NM_000202.8(IDS):c.323A>G (p.Tyr108Cys)
NM_000202.8(IDS):c.323_325del (p.Tyr108del)
NM_000202.8(IDS):c.325T>C (p.Trp109Arg)
NM_000202.8(IDS):c.325T>G (p.Trp109Gly)
NM_000202.8(IDS):c.326G>A (p.Trp109Ter)
NM_000202.8(IDS):c.327G>A (p.Trp109Ter)
NM_000202.8(IDS):c.327G>T (p.Trp109Cys)
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.331G>C (p.Val111Leu) rs1602748386
NM_000202.8(IDS):c.333G>T (p.Val111=) rs2124063244
NM_000202.8(IDS):c.337G>A (p.Ala113Thr) rs2124063209
NM_000202.8(IDS):c.339dup (p.Gly114fs)
NM_000202.8(IDS):c.33C>T (p.Leu11=) rs2520910780
NM_000202.8(IDS):c.341del (p.Gly114fs) rs2520896006
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.346T>G (p.Phe116Val) rs2124063192
NM_000202.8(IDS):c.349_351del (p.Ser117del) rs483352905
NM_000202.8(IDS):c.34T>C (p.Trp12Arg) rs1557340598
NM_000202.8(IDS):c.350C>A (p.Ser117Tyr)
NM_000202.8(IDS):c.350CCA[1] (p.Thr118del)
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.358C>T (p.Pro120Ser)
NM_000202.8(IDS):c.359C>A (p.Pro120His) rs193302911
NM_000202.8(IDS):c.359C>G (p.Pro120Arg) rs193302911
NM_000202.8(IDS):c.359C>T (p.Pro120Leu)
NM_000202.8(IDS):c.359_360insATCC (p.Gln121fs)
NM_000202.8(IDS):c.35G>A (p.Trp12Ter)
NM_000202.8(IDS):c.360C>G (p.Pro120=) rs2520895760
NM_000202.8(IDS):c.361C>A (p.Gln121Lys)
NM_000202.8(IDS):c.361C>T (p.Gln121Ter) rs2124063075
NM_000202.8(IDS):c.362A>G (p.Gln121Arg)
NM_000202.8(IDS):c.363G>C (p.Gln121His)
NM_000202.8(IDS):c.364T>G (p.Tyr122Asp) rs2520895682
NM_000202.8(IDS):c.366C>G (p.Tyr122Ter)
NM_000202.8(IDS):c.369_372del (p.Phe123fs) rs2520895663
NM_000202.8(IDS):c.36G>A (p.Trp12Ter) rs2520910742
NM_000202.8(IDS):c.372G>A (p.Lys124=)
NM_000202.8(IDS):c.374A>T (p.Glu125Val)
NM_000202.8(IDS):c.377dup (p.Asn126fs)
NM_000202.8(IDS):c.378T>C (p.Asn126=) rs2124063034
NM_000202.8(IDS):c.380G>A (p.Gly127Asp) rs2520895569
NM_000202.8(IDS):c.383A>C (p.Tyr128Ser) rs2124063021
NM_000202.8(IDS):c.383_384del (p.Tyr128fs)
NM_000202.8(IDS):c.388A>G (p.Thr130Ala) rs2520895485
NM_000202.8(IDS):c.389C>A (p.Thr130Asn)
NM_000202.8(IDS):c.389C>T (p.Thr130Ile) rs1557340233
NM_000202.8(IDS):c.393_394dup (p.Ser132fs)
NM_000202.8(IDS):c.395C>A (p.Ser132Ter)
NM_000202.8(IDS):c.395C>G (p.Ser132Trp)
NM_000202.8(IDS):c.397del (p.Val133fs)
NM_000202.8(IDS):c.400G>A (p.Gly134Arg) rs2520895308
NM_000202.8(IDS):c.400G>C (p.Gly134Arg)
NM_000202.8(IDS):c.401G>A (p.Gly134Glu) rs193302910
NM_000202.8(IDS):c.401G>T (p.Gly134Val)
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.412C>T (p.His138Tyr)
NM_000202.8(IDS):c.413A>G (p.His138Arg) rs2520895106
NM_000202.8(IDS):c.414C>T (p.His138=) rs1602748259
NM_000202.8(IDS):c.416del (p.Pro139fs)
NM_000202.8(IDS):c.416dup (p.Gly140fs)
NM_000202.8(IDS):c.418+10C>T rs2520894891
NM_000202.8(IDS):c.418+14T>A rs781915630
NM_000202.8(IDS):c.418+17A>G rs1210262255
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+1_418+4del rs2520895017
NM_000202.8(IDS):c.418+20G>T rs1557340214
NM_000202.8(IDS):c.418+2T>C rs2124062810
NM_000202.8(IDS):c.418+34G>T rs1463289439
NM_000202.8(IDS):c.418+3A>T
NM_000202.8(IDS):c.418+4C>G rs782011209
NM_000202.8(IDS):c.418+6_418+7del rs2520894952
NM_000202.8(IDS):c.418+8T>C rs2520894932
NM_000202.8(IDS):c.418+9C>G rs2520894915
NM_000202.8(IDS):c.418G>A (p.Gly140Arg)
NM_000202.8(IDS):c.418G>C (p.Gly140Arg)
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.41del (p.Gly14fs)
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>G (p.Ser143Cys)
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.43del (p.Leu15fs)
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_449insG (p.Pro150fs)
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>C (p.Pro174=)
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.542del (p.Asn181fs)
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.54C>T (p.Ser18=) rs782607292
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.57del (p.Val20fs) rs2124069318
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>C (p.Asp198Ala)
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.611A>G (p.Gln204Arg)
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.63C>T (p.Cys21=) rs2124069268
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.64G>A (p.Val22Ile) rs2520910307
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.66C>T (p.Val22=) rs1469964896
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.69C>G (p.Ala23=) rs1602750461
NM_000202.8(IDS):c.69C>T (p.Ala23=) rs1602750461
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.71_90del (p.Leu24fs)
NM_000202.8(IDS):c.71dup (p.Gly25fs)
NM_000202.8(IDS):c.721T>C (p.Leu241=)
NM_000202.8(IDS):c.721_727delinsAAGGGGG (p.Leu241_Pro243delinsLysGlyAla)
NM_000202.8(IDS):c.722dup (p.Leu241fs)
NM_000202.8(IDS):c.725A>G (p.Tyr242Cys)
NM_000202.8(IDS):c.726T>A (p.Tyr242Ter)
NM_000202.8(IDS):c.729C>T (p.Pro243=) rs2520852496
NM_000202.8(IDS):c.72C>T (p.Leu24=) rs781800570
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.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.76_80dup (p.Glu27fs)
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>A (p.Leu259Gln)
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.778C>A (p.Pro260Thr)
NM_000202.8(IDS):c.778C>T (p.Pro260Ser)
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.78C>A (p.Ser26=) rs2520910059
NM_000202.8(IDS):c.790T>A (p.Tyr264Asn)
NM_000202.8(IDS):c.791A>G (p.Tyr264Cys)
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.797C>T (p.Pro266Leu)
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.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.82dup (p.Thr28fs)
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.84G>T (p.Thr28=) rs1194554189
NM_000202.8(IDS):c.854del (p.Tyr285fs)
NM_000202.8(IDS):c.858T>G (p.Gly286=) rs2520850128
NM_000202.8(IDS):c.859_879+2dup
NM_000202.8(IDS):c.85C>T (p.Gln29Ter)
NM_000202.8(IDS):c.863T>C (p.Ile288Thr)
NM_000202.8(IDS):c.866C>T (p.Pro289Leu) rs2089436037
NM_000202.8(IDS):c.867del (p.Val290fs) rs2520850014
NM_000202.8(IDS):c.86A>T (p.Gln29Leu)
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.889C>G (p.Arg297Gly)
NM_000202.8(IDS):c.88_89insAT (p.Ala30fs) rs1602750400
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.95C>A (p.Ser32Ter)
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
NM_000202.8(IDS):c.99del (p.Thr34fs)
NM_000202.8(IDS):c.9_10insT (p.Pro4fs)
NM_000202.8(IDS):c.[1411G>C;1418C>T]
NM_000202.8:c.(?_1)_(1653_?)del
NM_000202.8:c.1123_1182del
NM_000203.5(IDUA):c.1045G>C (p.Asp349His) rs368454909

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