ClinVar Miner

List of variants studied for Metachromatic leukodystrophy by Invitae

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ClinVar version:
Total variants: 862
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.1210+20C>G rs762674 0.76867
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000487.6(ARSA):c.459C>T (p.His153=) rs6151412 0.05937
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) rs6151415 0.05295
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428 0.04709
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410 0.02425
NM_000487.6(ARSA):c.624T>C (p.His208=) rs113990230 0.01000
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229 0.00358
NM_000487.6(ARSA):c.466-7G>C rs6151414 0.00294
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu) rs201251634 0.00261
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371 0.00245
NM_000487.6(ARSA):c.1325A>G (p.Asn442Ser) rs6151427 0.00096
NM_000487.6(ARSA):c.564C>T (p.Ser188=) rs113209108 0.00071
NM_000487.6(ARSA):c.1251C>T (p.His417=) rs140158705 0.00066
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile) rs201085386 0.00042
NM_000487.6(ARSA):c.40G>A (p.Ala14Thr) rs145157196 0.00040
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_000487.6(ARSA):c.979+9G>A rs144915219 0.00030
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992 0.00022
NM_000487.6(ARSA):c.636C>T (p.Ala212=) rs200182983 0.00021
NM_000487.6(ARSA):c.656G>A (p.Arg219His) rs148403406 0.00021
NM_000487.6(ARSA):c.605G>A (p.Arg202His) rs201794808 0.00019
NM_000487.6(ARSA):c.680C>G (p.Ser227Cys) rs138468395 0.00019
NM_000487.6(ARSA):c.14C>T (p.Ala5Val) rs201315540 0.00018
NM_000487.6(ARSA):c.1258A>C (p.Ser420Arg) rs139073195 0.00013
NM_000487.6(ARSA):c.434G>A (p.Arg145Gln) rs551548107 0.00011
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355 0.00011
NM_000487.6(ARSA):c.972C>T (p.Ile324=) rs200567315 0.00011
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466 0.00010
NM_000487.6(ARSA):c.1297C>G (p.Leu433Val) rs201693608 0.00009
NM_000487.6(ARSA):c.1345G>A (p.Gly449Arg) rs117341984 0.00009
NM_000487.6(ARSA):c.489C>T (p.Cys163=) rs771770056 0.00009
NM_000487.6(ARSA):c.1210+14G>A rs557367346 0.00008
NM_000487.6(ARSA):c.728G>A (p.Arg243His) rs142142638 0.00008
NM_000487.6(ARSA):c.1334G>T (p.Gly445Val) rs540762357 0.00007
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475 0.00006
NM_000487.6(ARSA):c.1077C>T (p.Asp359=) rs1047628670 0.00006
NM_000487.6(ARSA):c.1374G>A (p.Leu458=) rs752463776 0.00006
NM_000487.6(ARSA):c.1407C>T (p.Asp469=) rs764962721 0.00006
NM_000487.6(ARSA):c.195C>T (p.Tyr65=) rs764737103 0.00006
NM_000487.6(ARSA):c.225-5C>T rs192013394 0.00006
NM_000487.6(ARSA):c.228C>T (p.Ala76=) rs371930403 0.00006
NM_000487.6(ARSA):c.637G>A (p.Asp213Asn) rs369786038 0.00006
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467 0.00006
NM_000487.6(ARSA):c.825G>T (p.Glu275Asp) rs907795869 0.00006
NM_000487.6(ARSA):c.855-16G>A rs777610879 0.00006
NM_000487.6(ARSA):c.918G>A (p.Thr306=) rs370250328 0.00006
NM_000487.6(ARSA):c.582C>T (p.Pro194=) rs372532763 0.00005
NM_000487.6(ARSA):c.1006C>T (p.Leu336=) rs778950224 0.00004
NM_000487.6(ARSA):c.1095G>A (p.Leu365=) rs765842290 0.00004
NM_000487.6(ARSA):c.1107+20A>G rs775162723 0.00004
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391 0.00004
NM_000487.6(ARSA):c.1344C>T (p.Ala448=) rs757112622 0.00004
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000487.6(ARSA):c.297G>C (p.Arg99=) rs1024546326 0.00004
NM_000487.6(ARSA):c.325G>A (p.Val109Met) rs746259972 0.00004
NM_000487.6(ARSA):c.466-19C>T rs371570415 0.00004
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter) rs768028181 0.00004
NM_000487.6(ARSA):c.492C>G (p.Phe164Leu) rs745605987 0.00004
NM_000487.6(ARSA):c.588G>A (p.Leu196=) rs758643108 0.00004
NM_000487.6(ARSA):c.591C>T (p.Pro197=) rs34457249 0.00004
NM_000487.6(ARSA):c.601G>T (p.Ala201Ser) rs377625311 0.00004
NM_000487.6(ARSA):c.826A>T (p.Thr276Ser) rs140966324 0.00004
NM_000487.6(ARSA):c.925G>A (p.Glu309Lys) rs199476360 0.00004
NM_000487.6(ARSA):c.1107+9G>A rs768146306 0.00003
NM_000487.6(ARSA):c.1157G>A (p.Arg386His) rs747155690 0.00003
NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer) rs755635209 0.00003
NM_000487.6(ARSA):c.1332G>T (p.Leu444=) rs540031338 0.00003
NM_000487.6(ARSA):c.13G>A (p.Ala5Thr) rs765893073 0.00003
NM_000487.6(ARSA):c.1441C>T (p.Arg481Trp) rs747443475 0.00003
NM_000487.6(ARSA):c.1442G>A (p.Arg481Gln) rs776116011 0.00003
NM_000487.6(ARSA):c.1444G>A (p.Gly482Ser) rs377717242 0.00003
NM_000487.6(ARSA):c.225-4G>A rs372937480 0.00003
NM_000487.6(ARSA):c.229G>T (p.Ala77Ser) rs763880042 0.00003
NM_000487.6(ARSA):c.369C>T (p.Ala123=) rs886057657 0.00003
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) rs74315464 0.00003
NM_000487.6(ARSA):c.514G>A (p.Gly172Ser) rs74315271 0.00003
NM_000487.6(ARSA):c.542dup (p.Leu183fs) rs776748338 0.00003
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468 0.00003
NM_000487.6(ARSA):c.882C>T (p.Gly294=) rs772592144 0.00003
NM_000487.6(ARSA):c.902G>A (p.Arg301Gln) rs573456864 0.00003
NM_000487.6(ARSA):c.924C>T (p.Tyr308=) rs753927253 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_000487.6(ARSA):c.999C>A (p.Ala333=) rs374063562 0.00003
NM_000487.6(ARSA):c.1107+18del rs758769790 0.00002
NM_000487.6(ARSA):c.1125C>T (p.Leu375=) rs574444264 0.00002
NM_000487.6(ARSA):c.1211-4C>T rs770243080 0.00002
NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser) rs199476380 0.00002
NM_000487.6(ARSA):c.12G>A (p.Gly4=) rs1160649029 0.00002
NM_000487.6(ARSA):c.1450G>C (p.Asp484His) rs749061034 0.00002
NM_000487.6(ARSA):c.1455C>T (p.Pro485=) rs903106180 0.00002
NM_000487.6(ARSA):c.1489C>T (p.Pro497Ser) rs1250959266 0.00002
NM_000487.6(ARSA):c.222T>C (p.Ser74=) rs760597265 0.00002
NM_000487.6(ARSA):c.237G>A (p.Leu79=) rs775487397 0.00002
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411 0.00002
NM_000487.6(ARSA):c.318G>A (p.Glu106=) rs775782217 0.00002
NM_000487.6(ARSA):c.330C>T (p.Ala110=) rs976328696 0.00002
NM_000487.6(ARSA):c.343G>A (p.Ala115Thr) rs1421381874 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000487.6(ARSA):c.465+14G>A rs766679286 0.00002
NM_000487.6(ARSA):c.466-8C>T rs765768453 0.00002
NM_000487.6(ARSA):c.510C>T (p.Cys170=) rs1483727422 0.00002
NM_000487.6(ARSA):c.513C>T (p.Asp171=) rs758695969 0.00002
NM_000487.6(ARSA):c.573G>A (p.Ala191=) rs376834935 0.00002
NM_000487.6(ARSA):c.592G>A (p.Gly198Arg) rs144393886 0.00002
NM_000487.6(ARSA):c.604C>T (p.Arg202Cys) rs374482942 0.00002
NM_000487.6(ARSA):c.629T>A (p.Leu210His) rs762593908 0.00002
NM_000487.6(ARSA):c.684C>T (p.His228=) rs762695598 0.00002
NM_000487.6(ARSA):c.828G>A (p.Thr276=) rs370585019 0.00002
NM_000487.6(ARSA):c.855-3C>T rs1338786023 0.00002
NM_000487.6(ARSA):c.930C>T (p.Gly310=) rs767751622 0.00002
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter) rs1375757476 0.00002
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser) rs148092995 0.00002
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys) rs398123419 0.00002
NM_000487.6(ARSA):c.1041G>A (p.Gly347=) rs1346784797 0.00001
NM_000487.6(ARSA):c.1063T>G (p.Leu355Val) rs763446964 0.00001
NM_000487.6(ARSA):c.1106A>C (p.Lys369Thr) rs200901626 0.00001
NM_000487.6(ARSA):c.1108-10C>G rs1285728159 0.00001
NM_000487.6(ARSA):c.1108-16_1108-15del rs779517703 0.00001
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln) rs74315477 0.00001
NM_000487.6(ARSA):c.1134C>T (p.Tyr378=) rs775109445 0.00001
NM_000487.6(ARSA):c.1137G>A (p.Pro379=) rs372869650 0.00001
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479 0.00001
NM_000487.6(ARSA):c.1155C>T (p.Val385=) rs149088203 0.00001
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys) rs199476370 0.00001
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480 0.00001
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr) rs199476376 0.00001
NM_000487.6(ARSA):c.1197C>G (p.His399Gln) rs752206330 0.00001
NM_000487.6(ARSA):c.1210+1G>A rs80338820 0.00001
NM_000487.6(ARSA):c.1211-12C>G rs1470754621 0.00001
NM_000487.6(ARSA):c.1211-15T>C rs374150980 0.00001
NM_000487.6(ARSA):c.1211-5C>G rs778131215 0.00001
NM_000487.6(ARSA):c.1229C>T (p.Thr410Ile) rs28940895 0.00001
NM_000487.6(ARSA):c.1277A>G (p.Glu426Gly) rs376220189 0.00001
NM_000487.6(ARSA):c.1284G>A (p.Pro428=) rs143139801 0.00001
NM_000487.6(ARSA):c.1287G>A (p.Leu429=) rs2082646305 0.00001
NM_000487.6(ARSA):c.1311T>C (p.Pro437=) rs1450339742 0.00001
NM_000487.6(ARSA):c.131C>T (p.Pro44Leu) rs1340814173 0.00001
NM_000487.6(ARSA):c.1321T>G (p.Tyr441Asp) rs2082645489 0.00001
NM_000487.6(ARSA):c.134G>C (p.Ser45Thr) rs867624246 0.00001
NM_000487.6(ARSA):c.1359G>A (p.Glu453=) rs1240594590 0.00001
NM_000487.6(ARSA):c.135C>A (p.Ser45Arg) rs375493957 0.00001
NM_000487.6(ARSA):c.1410A>T (p.Ala470=) rs762111673 0.00001
NM_000487.6(ARSA):c.1413T>C (p.Ala471=) rs1456677457 0.00001
NM_000487.6(ARSA):c.1415T>C (p.Val472Ala) rs978574508 0.00001
NM_000487.6(ARSA):c.1419C>G (p.Thr473=) rs1436902786 0.00001
NM_000487.6(ARSA):c.1422C>T (p.Phe474=) rs776884597 0.00001
NM_000487.6(ARSA):c.1423G>A (p.Gly475Ser) rs1017776709 0.00001
NM_000487.6(ARSA):c.1434G>A (p.Gln478=) rs769169905 0.00001
NM_000487.6(ARSA):c.1445G>A (p.Gly482Asp) rs745438306 0.00001
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly) rs199476388 0.00001
NM_000487.6(ARSA):c.147C>T (p.Pro49=) rs1439293576 0.00001
NM_000487.6(ARSA):c.1522C>T (p.His508Tyr) rs1278738755 0.00001
NM_000487.6(ARSA):c.160C>G (p.Leu54Val) rs1410632651 0.00001
NM_000487.6(ARSA):c.165G>A (p.Ala55=) rs1009808245 0.00001
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer) rs398123414 0.00001
NM_000487.6(ARSA):c.210G>A (p.Leu70=) rs776251854 0.00001
NM_000487.6(ARSA):c.224+8G>A rs775536824 0.00001
NM_000487.6(ARSA):c.234C>T (p.Leu78=) rs1158352334 0.00001
NM_000487.6(ARSA):c.240C>T (p.Thr80=) rs767509086 0.00001
NM_000487.6(ARSA):c.242G>C (p.Gly81Ala) rs1389990700 0.00001
NM_000487.6(ARSA):c.244C>T (p.Arg82Trp) rs1313802305 0.00001
NM_000487.6(ARSA):c.248T>C (p.Leu83Pro) rs1190061000 0.00001
NM_000487.6(ARSA):c.252G>T (p.Pro84=) rs1469297825 0.00001
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) rs199476352 0.00001
NM_000487.6(ARSA):c.25C>T (p.Leu9Phe) rs886057658 0.00001
NM_000487.6(ARSA):c.270C>T (p.Tyr90=) rs780399417 0.00001
NM_000487.6(ARSA):c.273T>G (p.Pro91=) rs758790900 0.00001
NM_000487.6(ARSA):c.279C>T (p.Val93=) rs756760904 0.00001
NM_000487.6(ARSA):c.27C>T (p.Leu9=) rs944621208 0.00001
NM_000487.6(ARSA):c.30C>T (p.Leu10=) rs1240234453 0.00001
NM_000487.6(ARSA):c.324C>T (p.Thr108=) rs772461835 0.00001
NM_000487.6(ARSA):c.338T>C (p.Leu113Pro) rs777431148 0.00001
NM_000487.6(ARSA):c.345C>G (p.Ala115=) rs943706810 0.00001
NM_000487.6(ARSA):c.350G>A (p.Gly117Asp) rs1433109241 0.00001
NM_000487.6(ARSA):c.363A>G (p.Gly121=) rs766279046 0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000487.6(ARSA):c.385G>A (p.Gly129Arg) rs753872402 0.00001
NM_000487.6(ARSA):c.429C>T (p.Phe143=) rs777372143 0.00001
NM_000487.6(ARSA):c.433C>T (p.Arg145Ter) rs199476373 0.00001
NM_000487.6(ARSA):c.442G>A (p.Gly148Ser) rs1188592346 0.00001
NM_000487.6(ARSA):c.450G>A (p.Pro150=) rs1199634827 0.00001
NM_000487.6(ARSA):c.460G>A (p.Asp154Asn) rs199476365 0.00001
NM_000487.6(ARSA):c.465+13C>T rs199767625 0.00001
NM_000487.6(ARSA):c.465+9C>T rs767722314 0.00001
NM_000487.6(ARSA):c.466-18G>A rs542689643 0.00001
NM_000487.6(ARSA):c.499G>T (p.Ala167Ser) rs578188411 0.00001
NM_000487.6(ARSA):c.526C>T (p.Gln176Ter) rs762284875 0.00001
NM_000487.6(ARSA):c.558C>T (p.Asn186=) rs574416131 0.00001
NM_000487.6(ARSA):c.56T>C (p.Val19Ala) rs1235007867 0.00001
NM_000487.6(ARSA):c.577C>A (p.Pro193Thr) rs199476374 0.00001
NM_000487.6(ARSA):c.57T>C (p.Val19=) rs1376355508 0.00001
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys) rs199476345 0.00001
NM_000487.6(ARSA):c.610A>G (p.Met204Val) rs1569080377 0.00001
NM_000487.6(ARSA):c.618C>T (p.Phe206=) rs370296376 0.00001
NM_000487.6(ARSA):c.639C>T (p.Asp213=) rs1266367694 0.00001
NM_000487.6(ARSA):c.640G>A (p.Ala214Thr) rs199476341 0.00001
NM_000487.6(ARSA):c.642C>T (p.Ala214=) rs372713506 0.00001
NM_000487.6(ARSA):c.657C>T (p.Arg219=) rs756533260 0.00001
NM_000487.6(ARSA):c.663C>T (p.Phe221=) rs754484249 0.00001
NM_000487.6(ARSA):c.66G>T (p.Pro22=) rs752921449 0.00001
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys) rs527640350 0.00001
NM_000487.6(ARSA):c.684+1G>A rs146371968 0.00001
NM_000487.6(ARSA):c.701A>G (p.Gln234Arg) rs748583298 0.00001
NM_000487.6(ARSA):c.705C>T (p.Phe235=) rs371985225 0.00001
NM_000487.6(ARSA):c.727C>T (p.Arg243Cys) rs369593442 0.00001
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) rs74315470 0.00001
NM_000487.6(ARSA):c.737G>A (p.Arg246His) rs199476366 0.00001
NM_000487.6(ARSA):c.741G>A (p.Gly247=) rs1174838208 0.00001
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser) rs199476384 0.00001
NM_000487.6(ARSA):c.769G>C (p.Asp257His) rs80338819 0.00001
NM_000487.6(ARSA):c.771T>A (p.Asp257Glu) rs563053401 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) rs199476386 0.00001
NM_000487.6(ARSA):c.855-1G>A rs754898479 0.00001
NM_000487.6(ARSA):c.858T>C (p.Pro286=) rs370962514 0.00001
NM_000487.6(ARSA):c.867G>A (p.Met289Ile) rs761919002 0.00001
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys) rs74315473 0.00001
NM_000487.6(ARSA):c.878G>A (p.Arg293Gln) rs373866455 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_000487.6(ARSA):c.891C>T (p.Ser297=) rs770536697 0.00001
NM_000487.6(ARSA):c.892G>A (p.Gly298Ser) rs748876604 0.00001
NM_000487.6(ARSA):c.901C>T (p.Arg301Trp) rs794727704 0.00001
NM_000487.6(ARSA):c.90C>T (p.Ala30=) rs1182299442 0.00001
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) rs199476382 0.00001
NM_000487.6(ARSA):c.963A>G (p.Pro321=) rs930585508 0.00001
NM_000487.6(ARSA):c.970A>G (p.Ile324Val) rs557527090 0.00001
NM_000487.6(ARSA):c.971T>C (p.Ile324Thr) rs1338627220 0.00001
NM_000487.6(ARSA):c.979+8C>T rs746862304 0.00001
NM_000487.6(ARSA):c.980-16A>G rs763589581 0.00001
NM_000487.6(ARSA):c.980-7C>T rs1401632855 0.00001
NM_000487.6(ARSA):c.990C>T (p.His330=) rs768366772 0.00001
NC_000022.10:g.(?_50167881)_(51066207_?)del
NC_000022.10:g.(?_51063563)_(51066217_?)del
NC_000022.10:g.(?_51063573)_(51064511_?)del
NC_000022.10:g.(?_51064344)_(51066227_?)del
NC_000022.10:g.(?_51065065)_(51065595_?)del
NC_000022.11:g.(?_50625125)_(50627799_?)del
NM_000487.5(ARSA):c.467del rs2082684340
NM_000487.6(ARSA):c.1005C>A (p.Ser335=)
NM_000487.6(ARSA):c.1005C>G (p.Ser335=)
NM_000487.6(ARSA):c.1005C>T (p.Ser335=) rs745783614
NM_000487.6(ARSA):c.1011C>T (p.Asp337=) rs1490520664
NM_000487.6(ARSA):c.1012C>G (p.Leu338Val) rs2146719624
NM_000487.6(ARSA):c.1015C>T (p.Leu339=)
NM_000487.6(ARSA):c.1024C>T (p.Leu342=) rs1220454918
NM_000487.6(ARSA):c.1030G>C (p.Ala344Pro)
NM_000487.6(ARSA):c.1033C>T (p.Leu345=)
NM_000487.6(ARSA):c.1035G>C (p.Leu345=) rs2146719470
NM_000487.6(ARSA):c.1036del (p.Ala346fs) rs1555900463
NM_000487.6(ARSA):c.1044C>G (p.Ala348=)
NM_000487.6(ARSA):c.1046del (p.Pro349fs) rs1603444908
NM_000487.6(ARSA):c.1047A>C (p.Pro349=) rs2146719351
NM_000487.6(ARSA):c.1047A>G (p.Pro349=)
NM_000487.6(ARSA):c.104A>G (p.Tyr35Cys) rs74315268
NM_000487.6(ARSA):c.104A>T (p.Tyr35Phe)
NM_000487.6(ARSA):c.1050G>C (p.Leu350=)
NM_000487.6(ARSA):c.1052C>T (p.Pro351Leu)
NM_000487.6(ARSA):c.1053del (p.Asn352fs)
NM_000487.6(ARSA):c.1056T>C (p.Asn352=)
NM_000487.6(ARSA):c.105T>C (p.Tyr35=) rs2146728349
NM_000487.6(ARSA):c.1068T>C (p.Asp356=) rs1490242617
NM_000487.6(ARSA):c.1071C>T (p.Gly357=)
NM_000487.6(ARSA):c.1086C>T (p.Pro362=) rs2082657800
NM_000487.6(ARSA):c.1087C>T (p.Leu363=)
NM_000487.6(ARSA):c.1087dup (p.Leu363fs) rs2082657747
NM_000487.6(ARSA):c.1089G>A (p.Leu363=)
NM_000487.6(ARSA):c.1089G>C (p.Leu363=) rs1233796816
NM_000487.6(ARSA):c.109G>C (p.Asp37His) rs2146728318
NM_000487.6(ARSA):c.109_116del (p.Asp37fs) rs753415648
NM_000487.6(ARSA):c.10G>A (p.Gly4Arg)
NM_000487.6(ARSA):c.1107+10G>A rs1298177681
NM_000487.6(ARSA):c.1107+10G>C rs1298177681
NM_000487.6(ARSA):c.1107+10del rs777871462
NM_000487.6(ARSA):c.1107+12G>A
NM_000487.6(ARSA):c.1107+15C>T
NM_000487.6(ARSA):c.1107+16C>G
NM_000487.6(ARSA):c.1107+16C>T
NM_000487.6(ARSA):c.1107+19G>A
NM_000487.6(ARSA):c.1107+1G>A rs2146718906
NM_000487.6(ARSA):c.1107+1G>C
NM_000487.6(ARSA):c.1107+1G>T rs2146718906
NM_000487.6(ARSA):c.1107+1del rs1057517036
NM_000487.6(ARSA):c.1107+8C>G rs551131929
NM_000487.6(ARSA):c.1107+8C>T rs551131929
NM_000487.6(ARSA):c.1107G>C (p.Lys369Asn) rs199476369
NM_000487.6(ARSA):c.1108-12C>G rs757806374
NM_000487.6(ARSA):c.1108-16C>T
NM_000487.6(ARSA):c.1108-3C>G rs1001100248
NM_000487.6(ARSA):c.1108-8G>A
NM_000487.6(ARSA):c.110_111insACTGGGCTGCTATGGGCA (p.Asp37delinsGluLeuGlyCysTyrGlyHis)
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1118A>C (p.Gln373Pro)
NM_000487.6(ARSA):c.1128_1129dup (p.Phe377fs)
NM_000487.6(ARSA):c.1136C>A (p.Pro379Gln)
NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu) rs74315478
NM_000487.6(ARSA):c.1136del (p.Pro379fs) rs2146717905
NM_000487.6(ARSA):c.1143C>T (p.Tyr381=)
NM_000487.6(ARSA):c.1146A>G (p.Pro382=) rs2146717855
NM_000487.6(ARSA):c.1149C>A (p.Asp383Glu)
NM_000487.6(ARSA):c.1157G>C (p.Arg386Pro) rs747155690
NM_000487.6(ARSA):c.1158T>A (p.Arg386=)
NM_000487.6(ARSA):c.1162G>T (p.Val388Phe) rs1222719732
NM_000487.6(ARSA):c.116G>A (p.Gly39Asp)
NM_000487.6(ARSA):c.116dup (p.Cys40fs)
NM_000487.6(ARSA):c.1171G>C (p.Val391Leu)
NM_000487.6(ARSA):c.1173G>A (p.Val391=)
NM_000487.6(ARSA):c.1174C>G (p.Arg392Gly)
NM_000487.6(ARSA):c.1176G>A (p.Arg392=)
NM_000487.6(ARSA):c.1176G>T (p.Arg392=)
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly) rs2146717703
NM_000487.6(ARSA):c.1182A>C (p.Gly394=) rs2146717672
NM_000487.6(ARSA):c.1196A>G (p.His399Arg)
NM_000487.6(ARSA):c.1197C>T (p.His399=) rs752206330
NM_000487.6(ARSA):c.1199T>C (p.Phe400Ser)
NM_000487.6(ARSA):c.1206C>T (p.Thr402=)
NM_000487.6(ARSA):c.1210+13C>A rs6151426
NM_000487.6(ARSA):c.1210+13C>T rs6151426
NM_000487.6(ARSA):c.1210+13del rs2146717560
NM_000487.6(ARSA):c.1210+14G>C
NM_000487.6(ARSA):c.1210+18A>C
NM_000487.6(ARSA):c.1210+18A>G rs372705596
NM_000487.6(ARSA):c.1210+18A>T
NM_000487.6(ARSA):c.1210+7C>T
NM_000487.6(ARSA):c.1210+8C>T rs2146717568
NM_000487.6(ARSA):c.1211-10C>T rs398123413
NM_000487.6(ARSA):c.1211-15T>G
NM_000487.6(ARSA):c.1211-2A>G rs74925710
NM_000487.6(ARSA):c.1211-3C>T
NM_000487.6(ARSA):c.1211-5C>T rs778131215
NM_000487.6(ARSA):c.1211-7del rs2146717104
NM_000487.6(ARSA):c.1211-8C>T rs1203092056
NM_000487.6(ARSA):c.1211-8del rs1342017537
NM_000487.6(ARSA):c.1211-9C>T rs1007814225
NM_000487.6(ARSA):c.1218C>G (p.Ala406=)
NM_000487.6(ARSA):c.1223G>A (p.Ser408Asn)
NM_000487.6(ARSA):c.1223G>C (p.Ser408Thr)
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del) rs765905826
NM_000487.6(ARSA):c.1227T>C (p.Asp409=)
NM_000487.6(ARSA):c.122A>G (p.Tyr41Cys)
NM_000487.6(ARSA):c.1230C>T (p.Thr410=) rs2146716964
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile) rs74315481
NM_000487.6(ARSA):c.1252G>A (p.Ala418Thr)
NM_000487.6(ARSA):c.1254C>T (p.Ala418=)
NM_000487.6(ARSA):c.1256C>A (p.Ser419Tyr) rs998702737
NM_000487.6(ARSA):c.1257C>T (p.Ser419=)
NM_000487.6(ARSA):c.1260C>T (p.Ser420=) rs1603444868
NM_000487.6(ARSA):c.1264_1265del (p.Leu422fs)
NM_000487.6(ARSA):c.1269del (p.Ala424fs) rs2082646919
NM_000487.6(ARSA):c.126G>A (p.Gly42=)
NM_000487.6(ARSA):c.1278G>A (p.Glu426=) rs2146716622
NM_000487.6(ARSA):c.1278del (p.Glu426fs)
NM_000487.6(ARSA):c.1279C>T (p.Pro427Ser)
NM_000487.6(ARSA):c.1280C>T (p.Pro427Leu)
NM_000487.6(ARSA):c.1282C>G (p.Pro428Ala) rs2146716603
NM_000487.6(ARSA):c.1282C>T (p.Pro428Ser)
NM_000487.6(ARSA):c.1282_1283dup (p.Leu429fs)
NM_000487.6(ARSA):c.1284G>C (p.Pro428=) rs143139801
NM_000487.6(ARSA):c.1288C>T (p.Leu430Phe)
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro) rs199476392
NM_000487.6(ARSA):c.1290C>T (p.Leu430=) rs2146716551
NM_000487.6(ARSA):c.1293T>A (p.Tyr431Ter) rs1209071029
NM_000487.6(ARSA):c.1294G>A (p.Asp432Asn)
NM_000487.6(ARSA):c.1297C>T (p.Leu433=)
NM_000487.6(ARSA):c.1298T>G (p.Leu433Arg) rs2146716505
NM_000487.6(ARSA):c.1299G>A (p.Leu433=)
NM_000487.6(ARSA):c.129_133del (p.His43fs)
NM_000487.6(ARSA):c.1305G>A (p.Lys435=) rs2146716483
NM_000487.6(ARSA):c.130C>A (p.Pro44Thr)
NM_000487.6(ARSA):c.1313G>A (p.Gly438Asp)
NM_000487.6(ARSA):c.1314_1315del (p.Asn440fs)
NM_000487.6(ARSA):c.1317G>A (p.Glu439=) rs2146716437
NM_000487.6(ARSA):c.1327C>T (p.Leu443=)
NM_000487.6(ARSA):c.1329G>A (p.Leu443=)
NM_000487.6(ARSA):c.1329G>T (p.Leu443=) rs758024178
NM_000487.6(ARSA):c.1330C>T (p.Leu444=)
NM_000487.6(ARSA):c.1330dup (p.Leu444fs)
NM_000487.6(ARSA):c.1335G>C (p.Gly445=)
NM_000487.6(ARSA):c.1335G>T (p.Gly445=)
NM_000487.6(ARSA):c.1337del (p.Gly446fs) rs750030142
NM_000487.6(ARSA):c.133A>G (p.Ser45Gly)
NM_000487.6(ARSA):c.1341G>A (p.Val447=)
NM_000487.6(ARSA):c.1344dup (p.Gly449fs) rs761555167
NM_000487.6(ARSA):c.1347G>A (p.Gly449=)
NM_000487.6(ARSA):c.1347G>T (p.Gly449=)
NM_000487.6(ARSA):c.1353C>A (p.Thr451=) rs2082644571
NM_000487.6(ARSA):c.135C>G (p.Ser45Arg)
NM_000487.6(ARSA):c.1363C>A (p.Leu455Met)
NM_000487.6(ARSA):c.1363C>T (p.Leu455=) rs1276493346
NM_000487.6(ARSA):c.136T>C (p.Ser46Pro)
NM_000487.6(ARSA):c.1370C>T (p.Ala457Val)
NM_000487.6(ARSA):c.1371C>T (p.Ala457=)
NM_000487.6(ARSA):c.1374G>C (p.Leu458=)
NM_000487.6(ARSA):c.1376A>G (p.Lys459Arg)
NM_000487.6(ARSA):c.1385A>G (p.Gln462Arg) rs2146716052
NM_000487.6(ARSA):c.1387C>T (p.Leu463=)
NM_000487.6(ARSA):c.1389G>T (p.Leu463=) rs2146716035
NM_000487.6(ARSA):c.1390C>T (p.Leu464Phe) rs2146716030
NM_000487.6(ARSA):c.1397C>T (p.Ala466Val) rs763065602
NM_000487.6(ARSA):c.1398C>T (p.Ala466=)
NM_000487.6(ARSA):c.1399C>T (p.Gln467Ter)
NM_000487.6(ARSA):c.13del (p.Ala5fs) rs919125796
NM_000487.6(ARSA):c.1408G>A (p.Ala470Thr)
NM_000487.6(ARSA):c.1408_1419del (p.Ala470_Thr473del) rs2082643081
NM_000487.6(ARSA):c.1417A>T (p.Thr473Ser) rs1603444852
NM_000487.6(ARSA):c.141C>G (p.Thr47=) rs2146728088
NM_000487.6(ARSA):c.1428dup (p.Ser477fs)
NM_000487.6(ARSA):c.1429A>T (p.Ser477Cys)
NM_000487.6(ARSA):c.1434G>C (p.Gln478His) rs769169905
NM_000487.6(ARSA):c.1435G>A (p.Val479Met)
NM_000487.6(ARSA):c.1436T>C (p.Val479Ala)
NM_000487.6(ARSA):c.1439C>T (p.Ala480Val) rs1490565534
NM_000487.6(ARSA):c.1441C>A (p.Arg481=)
NM_000487.6(ARSA):c.1443G>A (p.Arg481=) rs1487999885
NM_000487.6(ARSA):c.1446C>A (p.Gly482=) rs759357711
NM_000487.6(ARSA):c.1446C>G (p.Gly482=) rs759357711
NM_000487.6(ARSA):c.1446C>T (p.Gly482=) rs759357711
NM_000487.6(ARSA):c.1447G>T (p.Glu483Ter) rs148352371
NM_000487.6(ARSA):c.1451del (p.Asp484fs)
NM_000487.6(ARSA):c.1453C>T (p.Pro485Ser)
NM_000487.6(ARSA):c.1456G>A (p.Ala486Thr)
NM_000487.6(ARSA):c.1458C>T (p.Ala486=)
NM_000487.6(ARSA):c.1459C>T (p.Leu487=)
NM_000487.6(ARSA):c.1463A>G (p.Gln488Arg) rs2146715572
NM_000487.6(ARSA):c.1464G>A (p.Gln488=)
NM_000487.6(ARSA):c.1467C>A (p.Ile489=) rs2146715555
NM_000487.6(ARSA):c.1468T>C (p.Cys490Arg) rs755974448
NM_000487.6(ARSA):c.1472G>A (p.Cys491Tyr) rs1060499585
NM_000487.6(ARSA):c.1480G>A (p.Gly494Ser) rs144323513
NM_000487.6(ARSA):c.1488C>G (p.Thr496=)
NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.1492C>A (p.Arg498Ser)
NM_000487.6(ARSA):c.1492C>T (p.Arg498Cys)
NM_000487.6(ARSA):c.1492del (p.Arg498fs)
NM_000487.6(ARSA):c.1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu) rs6151428
NM_000487.6(ARSA):c.1500T>C (p.Ala500=) rs762056118
NM_000487.6(ARSA):c.1507C>T (p.His503Tyr)
NM_000487.6(ARSA):c.1512C>T (p.Cys504=) rs2146715350
NM_000487.6(ARSA):c.1516G>T (p.Asp506Tyr) rs764345345
NM_000487.6(ARSA):c.151C>G (p.Leu51Val) rs1348625953
NM_000487.6(ARSA):c.1523A>G (p.His508Arg) rs2082640761
NM_000487.6(ARSA):c.1527C>A (p.Ala509=)
NM_000487.6(ARSA):c.154G>A (p.Asp52Asn) rs2146728012
NM_000487.6(ARSA):c.156C>T (p.Asp52=) rs2082699054
NM_000487.6(ARSA):c.157C>T (p.Gln53Ter) rs1603445026
NM_000487.6(ARSA):c.157_164del (p.Gln53fs) rs2082698834
NM_000487.6(ARSA):c.159G>A (p.Gln53=)
NM_000487.6(ARSA):c.162G>A (p.Leu54=)
NM_000487.6(ARSA):c.168G>C (p.Ala56=) rs2146727921
NM_000487.6(ARSA):c.169G>A (p.Gly57Arg)
NM_000487.6(ARSA):c.173G>T (p.Gly58Val) rs2082698425
NM_000487.6(ARSA):c.176T>C (p.Leu59Pro)
NM_000487.6(ARSA):c.177G>A (p.Leu59=)
NM_000487.6(ARSA):c.178C>A (p.Arg60=)
NM_000487.6(ARSA):c.17C>T (p.Pro6Leu)
NM_000487.6(ARSA):c.185_186del (p.Thr62fs) rs1227301119
NM_000487.6(ARSA):c.186A>G (p.Thr62=) rs2082698171
NM_000487.6(ARSA):c.189C>T (p.Asp63=)
NM_000487.6(ARSA):c.18G>A (p.Pro6=)
NM_000487.6(ARSA):c.195C>G (p.Tyr65Ter)
NM_000487.6(ARSA):c.196G>A (p.Val66Met)
NM_000487.6(ARSA):c.198G>A (p.Val66=)
NM_000487.6(ARSA):c.198G>C (p.Val66=)
NM_000487.6(ARSA):c.200C>T (p.Pro67Leu) rs765558965
NM_000487.6(ARSA):c.200del (p.Pro67fs) rs2082697802
NM_000487.6(ARSA):c.205T>C (p.Ser69Pro) rs2146727641
NM_000487.6(ARSA):c.209T>C (p.Leu70Pro) rs199476351
NM_000487.6(ARSA):c.211_212del (p.Cys71fs) rs1057516288
NM_000487.6(ARSA):c.21G>T (p.Arg7=) rs1336556041
NM_000487.6(ARSA):c.221C>G (p.Ser74Cys) rs2146727534
NM_000487.6(ARSA):c.224+10G>A rs1603445022
NM_000487.6(ARSA):c.224+10G>C rs1603445022
NM_000487.6(ARSA):c.224+12del rs775260029
NM_000487.6(ARSA):c.224+13C>T
NM_000487.6(ARSA):c.224+14C>T
NM_000487.6(ARSA):c.224+16C>A rs2146727447
NM_000487.6(ARSA):c.224+17G>A
NM_000487.6(ARSA):c.224+19C>T
NM_000487.6(ARSA):c.224+1G>A rs1555901108
NM_000487.6(ARSA):c.224+1G>T rs1555901108
NM_000487.6(ARSA):c.224+20T>C
NM_000487.6(ARSA):c.224+2T>A rs2146727518
NM_000487.6(ARSA):c.224+9G>A
NM_000487.6(ARSA):c.224+9G>C
NM_000487.6(ARSA):c.225-12C>T
NM_000487.6(ARSA):c.225-13A>G
NM_000487.6(ARSA):c.225-15T>C
NM_000487.6(ARSA):c.225-15_225-14del
NM_000487.6(ARSA):c.225-17T>C rs1019791612
NM_000487.6(ARSA):c.225-1G>C
NM_000487.6(ARSA):c.225-2A>G rs1555901083
NM_000487.6(ARSA):c.225-3C>G rs756812838
NM_000487.6(ARSA):c.225-4G>T rs372937480
NM_000487.6(ARSA):c.225-9G>A rs914940978
NM_000487.6(ARSA):c.225-9G>C
NM_000487.6(ARSA):c.231C>G (p.Ala77=)
NM_000487.6(ARSA):c.231_232delinsTT (p.Leu78Phe) rs1603445011
NM_000487.6(ARSA):c.240dup (p.Gly81fs) rs786204599
NM_000487.6(ARSA):c.245G>T (p.Arg82Leu)
NM_000487.6(ARSA):c.247C>T (p.Leu83Phe) rs1603445008
NM_000487.6(ARSA):c.251C>G (p.Pro84Arg)
NM_000487.6(ARSA):c.252G>A (p.Pro84=)
NM_000487.6(ARSA):c.252G>C (p.Pro84=)
NM_000487.6(ARSA):c.256C>G (p.Arg86Gly)
NM_000487.6(ARSA):c.258G>T (p.Arg86=)
NM_000487.6(ARSA):c.25C>A (p.Leu9Ile)
NM_000487.6(ARSA):c.263del (p.Gly88fs)
NM_000487.6(ARSA):c.264C>G (p.Gly88=)
NM_000487.6(ARSA):c.264C>T (p.Gly88=)
NM_000487.6(ARSA):c.269_335del (p.Tyr90fs)
NM_000487.6(ARSA):c.270C>A (p.Tyr90Ter) rs780399417
NM_000487.6(ARSA):c.272del (p.Pro91fs) rs2082692417
NM_000487.6(ARSA):c.276C>A (p.Gly92=)
NM_000487.6(ARSA):c.276C>T (p.Gly92=) rs978006787
NM_000487.6(ARSA):c.278T>G (p.Val93Gly) rs2146726476
NM_000487.6(ARSA):c.28C>G (p.Leu10Val) rs911532602
NM_000487.6(ARSA):c.291C>T (p.Ser97=) rs2082691792
NM_000487.6(ARSA):c.294C>G (p.Ser98=) rs1217286631
NM_000487.6(ARSA):c.295C>T (p.Arg99Trp)
NM_000487.6(ARSA):c.295dup (p.Arg99fs) rs1555901056
NM_000487.6(ARSA):c.296G>A (p.Arg99Gln) rs759295985
NM_000487.6(ARSA):c.296G>C (p.Arg99Pro) rs759295985
NM_000487.6(ARSA):c.296G>T (p.Arg99Leu) rs759295985
NM_000487.6(ARSA):c.297G>A (p.Arg99=) rs1024546326
NM_000487.6(ARSA):c.300G>A (p.Gly100=)
NM_000487.6(ARSA):c.300G>C (p.Gly100=) rs1270135893
NM_000487.6(ARSA):c.300G>T (p.Gly100=) rs1270135893
NM_000487.6(ARSA):c.301G>T (p.Gly101Cys)
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.302G>T (p.Gly101Val) rs74315455
NM_000487.6(ARSA):c.302_303delinsTT (p.Gly101Val) rs2146726223
NM_000487.6(ARSA):c.302del (p.Gly101fs) rs761606317
NM_000487.6(ARSA):c.302dup (p.Leu102fs) rs761606317
NM_000487.6(ARSA):c.303C>G (p.Gly101=)
NM_000487.6(ARSA):c.304del (p.Leu102fs) rs786204673
NM_000487.6(ARSA):c.306G>T (p.Leu102=) rs768799536
NM_000487.6(ARSA):c.308C>G (p.Pro103Arg)
NM_000487.6(ARSA):c.309C>T (p.Pro103=) rs760915508
NM_000487.6(ARSA):c.310C>T (p.Leu104=) rs2146726140
NM_000487.6(ARSA):c.311del (p.Leu104fs)
NM_000487.6(ARSA):c.312G>A (p.Leu104=)
NM_000487.6(ARSA):c.323C>T (p.Thr108Ile)
NM_000487.6(ARSA):c.326T>C (p.Val109Ala)
NM_000487.6(ARSA):c.327G>A (p.Val109=) rs779471096
NM_000487.6(ARSA):c.329C>T (p.Ala110Val) rs1191014984
NM_000487.6(ARSA):c.336C>T (p.Val112=) rs2146726026
NM_000487.6(ARSA):c.337C>T (p.Leu113=)
NM_000487.6(ARSA):c.339G>A (p.Leu113=)
NM_000487.6(ARSA):c.339G>T (p.Leu113=) rs755790890
NM_000487.6(ARSA):c.33G>T (p.Leu11=) rs2146728998
NM_000487.6(ARSA):c.347G>A (p.Arg116Gln) rs754795152
NM_000487.6(ARSA):c.349G>A (p.Gly117Ser) rs2146725948
NM_000487.6(ARSA):c.349G>C (p.Gly117Arg)
NM_000487.6(ARSA):c.349_350dup (p.Tyr118fs)
NM_000487.6(ARSA):c.34del (p.Ala12fs) rs398123415
NM_000487.6(ARSA):c.355C>G (p.Leu119Val) rs1569081347
NM_000487.6(ARSA):c.36C>T (p.Ala12=)
NM_000487.6(ARSA):c.370G>T (p.Gly124Cys) rs74315461
NM_000487.6(ARSA):c.37C>T (p.Leu13=)
NM_000487.6(ARSA):c.386G>A (p.Gly129Glu)
NM_000487.6(ARSA):c.387G>C (p.Gly129=) rs764180051
NM_000487.6(ARSA):c.388G>A (p.Val130Met)
NM_000487.6(ARSA):c.38T>A (p.Leu13Gln)
NM_000487.6(ARSA):c.390G>A (p.Val130=)
NM_000487.6(ARSA):c.392G>A (p.Gly131Glu) rs1336260427
NM_000487.6(ARSA):c.393G>A (p.Gly131=) rs2146725697
NM_000487.6(ARSA):c.393_425del (p.Pro132_Gly142del) rs2146725299
NM_000487.6(ARSA):c.394C>T (p.Pro132Ser)
NM_000487.6(ARSA):c.409C>T (p.Leu137=) rs2146725581
NM_000487.6(ARSA):c.412C>A (p.Pro138Thr)
NM_000487.6(ARSA):c.412C>G (p.Pro138Ala)
NM_000487.6(ARSA):c.412C>T (p.Pro138Ser) rs60504011
NM_000487.6(ARSA):c.413C>A (p.Pro138His) rs74315462
NM_000487.6(ARSA):c.413C>G (p.Pro138Arg) rs74315462
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu) rs74315462
NM_000487.6(ARSA):c.414C>G (p.Pro138=) rs912206675
NM_000487.6(ARSA):c.414C>T (p.Pro138=) rs912206675
NM_000487.6(ARSA):c.417C>A (p.Pro139=) rs375898040
NM_000487.6(ARSA):c.417C>G (p.Pro139=) rs375898040
NM_000487.6(ARSA):c.417C>T (p.Pro139=) rs375898040
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.418del (p.His140fs) rs745884435
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000487.6(ARSA):c.419A>T (p.His140Leu) rs2082687894
NM_000487.6(ARSA):c.422del (p.Gln141fs)
NM_000487.6(ARSA):c.424G>A (p.Gly142Ser) rs2146725322
NM_000487.6(ARSA):c.427T>C (p.Phe143Leu)
NM_000487.6(ARSA):c.42T>C (p.Ala14=) rs2146728922
NM_000487.6(ARSA):c.433C>G (p.Arg145Gly) rs199476373
NM_000487.6(ARSA):c.436T>C (p.Phe146Leu)
NM_000487.6(ARSA):c.446T>C (p.Ile149Thr)
NM_000487.6(ARSA):c.448C>T (p.Pro150Ser) rs1569081077
NM_000487.6(ARSA):c.449C>G (p.Pro150Arg) rs199476375
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000487.6(ARSA):c.451dup (p.Tyr151fs) rs2082687168
NM_000487.6(ARSA):c.454T>A (p.Ser152Thr)
NM_000487.6(ARSA):c.455C>G (p.Ser152Cys)
NM_000487.6(ARSA):c.460G>C (p.Asp154His)
NM_000487.6(ARSA):c.460G>T (p.Asp154Tyr) rs199476365
NM_000487.6(ARSA):c.465+10A>C
NM_000487.6(ARSA):c.465+12C>T
NM_000487.6(ARSA):c.465+13C>A
NM_000487.6(ARSA):c.465+15G>A
NM_000487.6(ARSA):c.465+16G>A
NM_000487.6(ARSA):c.465+16G>T
NM_000487.6(ARSA):c.465+17C>T
NM_000487.6(ARSA):c.465+17_465+18insT
NM_000487.6(ARSA):c.465+19C>T
NM_000487.6(ARSA):c.465+20del
NM_000487.6(ARSA):c.465+3A>G rs2082686619
NM_000487.6(ARSA):c.465+5G>A rs752777806
NM_000487.6(ARSA):c.465+8C>A rs2146724934
NM_000487.6(ARSA):c.465+8C>T rs2146724934
NM_000487.6(ARSA):c.465G>A (p.Gln155=) rs199476377
NM_000487.6(ARSA):c.466-11G>C
NM_000487.6(ARSA):c.466-19C>A
NM_000487.6(ARSA):c.466-2A>G rs1057517044
NM_000487.6(ARSA):c.466-4_482del
NM_000487.6(ARSA):c.466-5C>T rs2146724391
NM_000487.6(ARSA):c.466-7G>A rs6151414
NM_000487.6(ARSA):c.466-8C>G rs765768453
NM_000487.6(ARSA):c.467G>A (p.Gly156Asp) rs74315463
NM_000487.6(ARSA):c.473G>C (p.Cys158Ser) rs1226689808
NM_000487.6(ARSA):c.475C>T (p.Gln159Ter)
NM_000487.6(ARSA):c.477G>A (p.Gln159=)
NM_000487.6(ARSA):c.484A>G (p.Thr162Ala)
NM_000487.6(ARSA):c.485C>G (p.Thr162Ser)
NM_000487.6(ARSA):c.486C>T (p.Thr162=)
NM_000487.6(ARSA):c.488G>A (p.Cys163Tyr) rs1430695346
NM_000487.6(ARSA):c.48C>T (p.Gly16=)
NM_000487.6(ARSA):c.492C>T (p.Phe164=) rs745605987
NM_000487.6(ARSA):c.495G>A (p.Pro165=) rs145299072
NM_000487.6(ARSA):c.495G>T (p.Pro165=) rs145299072
NM_000487.6(ARSA):c.495_501del (p.Pro166fs) rs1057517429
NM_000487.6(ARSA):c.498G>A (p.Pro166=)
NM_000487.6(ARSA):c.49C>T (p.Leu17=) rs2146728877
NM_000487.6(ARSA):c.501C>T (p.Ala167=)
NM_000487.6(ARSA):c.511G>T (p.Asp171Tyr) rs74315466
NM_000487.6(ARSA):c.514G>T (p.Gly172Cys)
NM_000487.6(ARSA):c.518G>A (p.Gly173Asp)
NM_000487.6(ARSA):c.530G>A (p.Gly177Asp) rs556812341
NM_000487.6(ARSA):c.531C>A (p.Gly177=)
NM_000487.6(ARSA):c.535G>A (p.Val179Ile)
NM_000487.6(ARSA):c.536del (p.Val179fs)
NM_000487.6(ARSA):c.537C>T (p.Val179=) rs2146723980
NM_000487.6(ARSA):c.540C>A (p.Pro180=) rs2146723960
NM_000487.6(ARSA):c.543C>T (p.Ile181=) rs2146723907
NM_000487.6(ARSA):c.545del (p.Pro182fs) rs1057516907
NM_000487.6(ARSA):c.54C>T (p.Ala18=) rs2146728830
NM_000487.6(ARSA):c.550T>C (p.Leu184=) rs760091071
NM_000487.6(ARSA):c.555C>T (p.Ala185=)
NM_000487.6(ARSA):c.558C>A (p.Asn186Lys)
NM_000487.6(ARSA):c.561G>A (p.Leu187=) rs2082681709
NM_000487.6(ARSA):c.562T>G (p.Ser188Ala) rs1428555439
NM_000487.6(ARSA):c.565G>A (p.Val189Met)
NM_000487.6(ARSA):c.568G>C (p.Glu190Gln)
NM_000487.6(ARSA):c.570G>A (p.Glu190=)
NM_000487.6(ARSA):c.571G>A (p.Ala191Thr) rs2146723680
NM_000487.6(ARSA):c.574C>T (p.Gln192Ter)
NM_000487.6(ARSA):c.577C>T (p.Pro193Ser)
NM_000487.6(ARSA):c.579C>T (p.Pro193=)
NM_000487.6(ARSA):c.580C>T (p.Pro194Ser)
NM_000487.6(ARSA):c.581C>A (p.Pro194His) rs769492279
NM_000487.6(ARSA):c.581C>G (p.Pro194Arg) rs769492279
NM_000487.6(ARSA):c.582del (p.Trp195fs) rs2082680996
NM_000487.6(ARSA):c.583del (p.Trp195fs) rs398123416
NM_000487.6(ARSA):c.584G>A (p.Trp195Ter)
NM_000487.6(ARSA):c.586C>T (p.Leu196=)
NM_000487.6(ARSA):c.588G>T (p.Leu196=) rs758643108
NM_000487.6(ARSA):c.595C>T (p.Leu199=)
NM_000487.6(ARSA):c.603C>A (p.Ala201=) rs2082680250
NM_000487.6(ARSA):c.607T>C (p.Tyr203His) rs2082680103
NM_000487.6(ARSA):c.617dup (p.Ala207fs) rs2146723372
NM_000487.6(ARSA):c.619G>A (p.Ala207Thr)
NM_000487.6(ARSA):c.61del (p.Arg21fs)
NM_000487.6(ARSA):c.620C>T (p.Ala207Val) rs759098239
NM_000487.6(ARSA):c.621C>T (p.Ala207=) rs2146723331
NM_000487.6(ARSA):c.622del (p.His208fs) rs1555900900
NM_000487.6(ARSA):c.629T>C (p.Leu210Pro)
NM_000487.6(ARSA):c.633G>A (p.Met211Ile) rs773059458
NM_000487.6(ARSA):c.635C>G (p.Ala212Gly)
NM_000487.6(ARSA):c.636C>G (p.Ala212=) rs200182983
NM_000487.6(ARSA):c.640G>C (p.Ala214Pro) rs199476341
NM_000487.6(ARSA):c.645G>A (p.Gln215=) rs757515500
NM_000487.6(ARSA):c.645_660dup (p.Phe221fs)
NM_000487.6(ARSA):c.646C>T (p.Arg216Cys)
NM_000487.6(ARSA):c.658C>A (p.Pro220Thr)
NM_000487.6(ARSA):c.662T>C (p.Phe221Ser) rs2146723107
NM_000487.6(ARSA):c.66G>A (p.Pro22=) rs752921449
NM_000487.6(ARSA):c.66G>C (p.Pro22=) rs752921449
NM_000487.6(ARSA):c.676G>T (p.Ala226Ser)
NM_000487.6(ARSA):c.678C>T (p.Ala226=) rs1205000954
NM_000487.6(ARSA):c.679T>C (p.Ser227Pro) rs1555900849
NM_000487.6(ARSA):c.680C>T (p.Ser227Phe)
NM_000487.6(ARSA):c.681T>C (p.Ser227=)
NM_000487.6(ARSA):c.684+10C>T
NM_000487.6(ARSA):c.684+14G>A
NM_000487.6(ARSA):c.684+15C>T
NM_000487.6(ARSA):c.684+16C>A
NM_000487.6(ARSA):c.684+18A>G
NM_000487.6(ARSA):c.684+20C>T
NM_000487.6(ARSA):c.684+9T>A
NM_000487.6(ARSA):c.685-12C>G
NM_000487.6(ARSA):c.685-14G>C
NM_000487.6(ARSA):c.685-18T>G
NM_000487.6(ARSA):c.685-2A>G rs1490196552
NM_000487.6(ARSA):c.685-4C>T rs2082676664
NM_000487.6(ARSA):c.685-5C>G
NM_000487.6(ARSA):c.685-5C>T rs2146722799
NM_000487.6(ARSA):c.685-6C>T
NM_000487.6(ARSA):c.685-9del
NM_000487.6(ARSA):c.687C>T (p.His229=) rs2146722747
NM_000487.6(ARSA):c.693C>T (p.His231=)
NM_000487.6(ARSA):c.696C>T (p.Tyr232=) rs1603444965
NM_000487.6(ARSA):c.698C>G (p.Pro233Arg)
NM_000487.6(ARSA):c.699T>C (p.Pro233=) rs2082676297
NM_000487.6(ARSA):c.69C>G (p.Pro23=)
NM_000487.6(ARSA):c.6C>T (p.Ser2=) rs1373055038
NM_000487.6(ARSA):c.700C>G (p.Gln234Glu) rs2082676249
NM_000487.6(ARSA):c.708T>C (p.Ser236=) rs2146722657
NM_000487.6(ARSA):c.712C>T (p.Gln238Ter) rs751026400
NM_000487.6(ARSA):c.717C>T (p.Ser239=) rs2146722590
NM_000487.6(ARSA):c.723A>G (p.Ala241=) rs765934724
NM_000487.6(ARSA):c.724G>A (p.Glu242Lys) rs757891932
NM_000487.6(ARSA):c.724G>T (p.Glu242Ter) rs757891932
NM_000487.6(ARSA):c.725A>G (p.Glu242Gly) rs1403824251
NM_000487.6(ARSA):c.729T>C (p.Arg243=) rs1407610322
NM_000487.6(ARSA):c.731C>A (p.Ser244Ter) rs1394861740
NM_000487.6(ARSA):c.735C>T (p.Gly245=) rs2146722479
NM_000487.6(ARSA):c.737G>T (p.Arg246Leu)
NM_000487.6(ARSA):c.737_744dup (p.Phe249fs)
NM_000487.6(ARSA):c.738C>G (p.Arg246=)
NM_000487.6(ARSA):c.738C>T (p.Arg246=) rs1477964459
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.750G>A (p.Gly250=) rs2146722402
NM_000487.6(ARSA):c.756C>T (p.Ser252=) rs2146722384
NM_000487.6(ARSA):c.758dup (p.Met254fs) rs74315270
NM_000487.6(ARSA):c.759G>A (p.Leu253=) rs1249616269
NM_000487.6(ARSA):c.761T>C (p.Met254Thr) rs1200786946
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.6(ARSA):c.764A>C (p.Glu255Ala)
NM_000487.6(ARSA):c.765G>C (p.Glu255Asp)
NM_000487.6(ARSA):c.768G>A (p.Leu256=) rs2146722333
NM_000487.6(ARSA):c.769G>A (p.Asp257Asn)
NM_000487.6(ARSA):c.770A>T (p.Asp257Val)
NM_000487.6(ARSA):c.771T>G (p.Asp257Glu)
NM_000487.6(ARSA):c.780G>A (p.Val260=)
NM_000487.6(ARSA):c.781G>A (p.Gly261Arg) rs138850940
NM_000487.6(ARSA):c.782G>A (p.Gly261Glu)
NM_000487.6(ARSA):c.786C>G (p.Thr262=)
NM_000487.6(ARSA):c.786C>T (p.Thr262=)
NM_000487.6(ARSA):c.789G>C (p.Leu263=)
NM_000487.6(ARSA):c.800T>C (p.Ile267Thr)
NM_000487.6(ARSA):c.802G>A (p.Gly268Arg) rs1404723529
NM_000487.6(ARSA):c.804G>A (p.Gly268=) rs2146722165
NM_000487.6(ARSA):c.813G>A (p.Gly271=)
NM_000487.6(ARSA):c.814C>T (p.Leu272=) rs780463755
NM_000487.6(ARSA):c.818T>C (p.Leu273Pro)
NM_000487.6(ARSA):c.820G>A (p.Glu274Lys)
NM_000487.6(ARSA):c.823G>A (p.Glu275Lys)
NM_000487.6(ARSA):c.823G>C (p.Glu275Gln)
NM_000487.6(ARSA):c.829C>T (p.Leu277=) rs2082673382
NM_000487.6(ARSA):c.837C>T (p.Ile279=)
NM_000487.6(ARSA):c.842C>T (p.Thr281Ile) rs966673017
NM_000487.6(ARSA):c.849C>T (p.Asp283=) rs2146722002
NM_000487.6(ARSA):c.851A>G (p.Asn284Ser) rs199476342
NM_000487.6(ARSA):c.854+13_854+65del
NM_000487.6(ARSA):c.854+14G>A
NM_000487.6(ARSA):c.854+17G>C
NM_000487.6(ARSA):c.854+18C>T
NM_000487.6(ARSA):c.854+1G>A rs886041911
NM_000487.6(ARSA):c.854+1G>T rs886041911
NM_000487.6(ARSA):c.854+9G>A rs1349278805
NM_000487.6(ARSA):c.854G>A (p.Gly285Glu)
NM_000487.6(ARSA):c.855-12C>A
NM_000487.6(ARSA):c.855-12C>T
NM_000487.6(ARSA):c.855-17C>A
NM_000487.6(ARSA):c.855-17C>T
NM_000487.6(ARSA):c.855-18G>A
NM_000487.6(ARSA):c.855-19A>G
NM_000487.6(ARSA):c.855-20dup
NM_000487.6(ARSA):c.855-24_907del
NM_000487.6(ARSA):c.855-4C>T rs767436029
NM_000487.6(ARSA):c.861G>A (p.Glu287=) rs2146720925
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro) rs28940894
NM_000487.6(ARSA):c.863C>A (p.Thr288Asn)
NM_000487.6(ARSA):c.864C>G (p.Thr288=) rs1184775418
NM_000487.6(ARSA):c.868C>G (p.Arg290Gly)
NM_000487.6(ARSA):c.868_873del (p.Arg290_Met291del)
NM_000487.6(ARSA):c.869G>C (p.Arg290Pro)
NM_000487.6(ARSA):c.870T>C (p.Arg290=)
NM_000487.6(ARSA):c.877C>T (p.Arg293Ter) rs1555900678
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp) rs199476387
NM_000487.6(ARSA):c.891C>A (p.Ser297=)
NM_000487.6(ARSA):c.892G>T (p.Gly298Cys) rs748876604
NM_000487.6(ARSA):c.898T>C (p.Leu300=)
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser) rs199476389
NM_000487.6(ARSA):c.899T>G (p.Leu300Trp)
NM_000487.6(ARSA):c.900G>A (p.Leu300=) rs540600192
NM_000487.6(ARSA):c.901C>G (p.Arg301Gly) rs794727704
NM_000487.6(ARSA):c.905G>A (p.Cys302Tyr) rs74315484
NM_000487.6(ARSA):c.907G>A (p.Gly303Arg)
NM_000487.6(ARSA):c.908G>T (p.Gly303Val)
NM_000487.6(ARSA):c.909A>G (p.Gly303=) rs2146720606
NM_000487.6(ARSA):c.912G>A (p.Lys304=)
NM_000487.6(ARSA):c.913G>A (p.Gly305Arg) rs2146720596
NM_000487.6(ARSA):c.916A>G (p.Thr306Ala)
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.922T>C (p.Tyr308His) rs199476379
NM_000487.6(ARSA):c.925G>T (p.Glu309Ter) rs199476360
NM_000487.6(ARSA):c.926A>G (p.Glu309Gly)
NM_000487.6(ARSA):c.926A>T (p.Glu309Val) rs1085308016
NM_000487.6(ARSA):c.927G>A (p.Glu309=) rs775875051
NM_000487.6(ARSA):c.928G>A (p.Gly310Ser)
NM_000487.6(ARSA):c.928G>T (p.Gly310Cys)
NM_000487.6(ARSA):c.929G>A (p.Gly310Asp) rs199476356
NM_000487.6(ARSA):c.929del (p.Gly310fs) rs1057516638
NM_000487.6(ARSA):c.931G>T (p.Gly311Cys)
NM_000487.6(ARSA):c.936C>A (p.Val312=)
NM_000487.6(ARSA):c.937C>A (p.Arg313=) rs551472773
NM_000487.6(ARSA):c.937C>G (p.Arg313Gly) rs551472773
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000487.6(ARSA):c.93C>G (p.Asp31Glu)
NM_000487.6(ARSA):c.942G>A (p.Glu314=)
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp) rs199476390
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr) rs199476368
NM_000487.6(ARSA):c.949T>C (p.Leu317=)
NM_000487.6(ARSA):c.951G>A (p.Leu317=)
NM_000487.6(ARSA):c.953C>T (p.Ala318Val) rs997702399
NM_000487.6(ARSA):c.955_956insGCCTTGAT (p.Phe319fs)
NM_000487.6(ARSA):c.958T>G (p.Trp320Gly)
NM_000487.6(ARSA):c.967C>T (p.His323Tyr) rs920501988
NM_000487.6(ARSA):c.970A>T (p.Ile324Phe)
NM_000487.6(ARSA):c.973G>A (p.Ala325Thr)
NM_000487.6(ARSA):c.978C>T (p.Pro326=)
NM_000487.6(ARSA):c.979+10C>T
NM_000487.6(ARSA):c.979+13G>C
NM_000487.6(ARSA):c.979+18C>T
NM_000487.6(ARSA):c.979+1G>A rs754722529
NM_000487.6(ARSA):c.979+20C>A
NM_000487.6(ARSA):c.979+20C>T
NM_000487.6(ARSA):c.979_979+3del rs1057516887
NM_000487.6(ARSA):c.980-10C>T rs1486892120
NM_000487.6(ARSA):c.980-13C>T
NM_000487.6(ARSA):c.980-17C>T
NM_000487.6(ARSA):c.980-20G>A
NM_000487.6(ARSA):c.980-21_980-20delinsCT
NM_000487.6(ARSA):c.980-8G>A rs1259035524
NM_000487.6(ARSA):c.981C>T (p.Gly327=)
NM_000487.6(ARSA):c.986C>G (p.Thr329Ser)
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile) rs398123418
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) rs398123419
NM_000487.6(ARSA):c.992A>G (p.Glu331Gly)
NM_000487.6(ARSA):c.999C>T (p.Ala333=) rs374063562
NM_000487.6(ARSA):c.99C>T (p.Leu33=) rs2082700588

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