ClinVar Miner

List of variants in gene DTNA studied for cardiomyopathy

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 436
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HGVS dbSNP gnomAD frequency
NM_001386795.1(DTNA):c.1743+14G>A rs1617318 0.37431
NM_001386795.1(DTNA):c.1903+17T>C rs541157 0.16470
NM_001386795.1(DTNA):c.1903+8G>A rs111817603 0.01438
NM_001386795.1(DTNA):c.1821G>A (p.Ala607=) rs9959365 0.00984
NM_001386795.1(DTNA):c.537G>T (p.Thr179=) rs11877640 0.00956
NM_001386795.1(DTNA):c.933C>T (p.Ser311=) rs114170541 0.00902
NM_001386795.1(DTNA):c.2162+14G>A rs76713874 0.00820
NM_001386795.1(DTNA):c.1438C>A (p.Pro480Thr) rs77320474 0.00593
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00459
NM_001386795.1(DTNA):c.1993+7T>C rs138590000 0.00403
NM_001386795.1(DTNA):c.1435-19T>C rs141620769 0.00328
NM_001386795.1(DTNA):c.243A>G (p.Leu81=) rs146923532 0.00285
NM_001386795.1(DTNA):c.999C>T (p.Ile333=) rs61737438 0.00258
NM_001386795.1(DTNA):c.1176-8T>C rs41274310 0.00216
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr) rs139872140 0.00207
NM_001386795.1(DTNA):c.604-14G>T rs397517447 0.00123
NM_001386795.1(DTNA):c.1088T>C (p.Leu363Ser) rs546236565 0.00121
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_001386795.1(DTNA):c.2178A>C (p.Ala726=) rs145486636 0.00063
NM_001386795.1(DTNA):c.92G>A (p.Arg31Gln) rs202046233 0.00063
NM_001386795.1(DTNA):c.955A>G (p.Met319Val) rs141981161 0.00047
NM_001386795.1(DTNA):c.1480G>A (p.Asp494Asn) rs144880521 0.00037
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln) rs138143719 0.00034
NM_001386795.1(DTNA):c.51G>A (p.Gln17=) rs368000651 0.00030
NM_001386795.1(DTNA):c.2108G>A (p.Arg703Gln) rs142009291 0.00028
NM_001386795.1(DTNA):c.1270A>G (p.Asn424Asp) rs150679265 0.00025
NM_001386795.1(DTNA):c.1404G>A (p.Ala468=) rs144776465 0.00025
NM_001386795.1(DTNA):c.316C>G (p.Gln106Glu) rs140768365 0.00025
NM_001386795.1(DTNA):c.1330C>T (p.Arg444Trp) rs199867593 0.00024
NM_001386795.1(DTNA):c.126G>A (p.Arg42=) rs376001633 0.00020
NM_001386795.1(DTNA):c.2283T>C (p.Asp761=) rs187028045 0.00020
NM_001386795.1(DTNA):c.*2600C>T rs794729006 0.00019
NM_001386795.1(DTNA):c.1918T>C (p.Leu640=) rs372620035 0.00019
NM_001386795.1(DTNA):c.1485G>A (p.Ala495=) rs397517443 0.00016
NM_001386795.1(DTNA):c.1847C>T (p.Thr616Met) rs199556035 0.00013
NM_001386795.1(DTNA):c.1936G>T (p.Val646Leu) rs191002814 0.00013
NM_001386795.1(DTNA):c.1652G>A (p.Arg551His) rs142108185 0.00011
NM_001386795.1(DTNA):c.614C>T (p.Thr205Met) rs201071018 0.00010
NM_001386795.1(DTNA):c.371A>G (p.His124Arg) rs150147476 0.00009
NM_001386795.1(DTNA):c.1002-2330A>G rs369005625 0.00008
NM_001386795.1(DTNA):c.1454G>C (p.Ser485Thr) rs190619495 0.00008
NM_001386795.1(DTNA):c.482T>C (p.Val161Ala) rs199960642 0.00008
NM_001386795.1(DTNA):c.1479C>T (p.Ile493=) rs145061501 0.00007
NM_001386795.1(DTNA):c.1939G>T (p.Ala647Ser) rs566869682 0.00007
NM_001386795.1(DTNA):c.229A>G (p.Asn77Asp) rs147782267 0.00007
NM_001386795.1(DTNA):c.1183C>T (p.Pro395Ser) rs768198248 0.00006
NM_001386795.1(DTNA):c.1219G>T (p.Ala407Ser) rs760958673 0.00006
NM_001386795.1(DTNA):c.1532+16C>T rs562514105 0.00006
NM_001386795.1(DTNA):c.1592C>T (p.Thr531Met) rs199828427 0.00006
NM_001386795.1(DTNA):c.1593G>A (p.Thr531=) rs748063105 0.00006
NM_001386795.1(DTNA):c.1915A>G (p.Asn639Asp) rs779045040 0.00006
NM_001386795.1(DTNA):c.239G>A (p.Arg80His) rs774912781 0.00006
NM_001386795.1(DTNA):c.423A>G (p.Gly141=) rs376651004 0.00006
NM_001386795.1(DTNA):c.448+10T>G rs757645396 0.00006
NM_001386795.1(DTNA):c.603+15T>C rs367772080 0.00006
NM_001386795.1(DTNA):c.1002-6T>C rs200208281 0.00005
NM_001386795.1(DTNA):c.1813C>T (p.Arg605Trp) rs749405895 0.00005
NM_001386795.1(DTNA):c.1848G>A (p.Thr616=) rs373742103 0.00005
NM_001386795.1(DTNA):c.675G>A (p.Leu225=) rs376519672 0.00005
NM_001386795.1(DTNA):c.1346+5G>C rs397517448 0.00004
NM_001386795.1(DTNA):c.1366C>T (p.Arg456Trp) rs759435722 0.00004
NM_001386795.1(DTNA):c.1367G>A (p.Arg456Gln) rs777787083 0.00004
NM_001386795.1(DTNA):c.1431G>A (p.Ser477=) rs202088347 0.00004
NM_001386795.1(DTNA):c.1841C>T (p.Thr614Met) rs757959636 0.00004
NM_001386795.1(DTNA):c.1875G>A (p.Gly625=) rs542483546 0.00004
NM_001386795.1(DTNA):c.2153G>A (p.Arg718His) rs111587625 0.00004
NM_001386795.1(DTNA):c.2157C>T (p.Gly719=) rs754959223 0.00004
NM_001386795.1(DTNA):c.2168C>T (p.Thr723Met) rs200977103 0.00004
NM_001386795.1(DTNA):c.657G>A (p.Pro219=) rs140446215 0.00004
NM_001386795.1(DTNA):c.69G>A (p.Arg23=) rs751765838 0.00004
NM_001386795.1(DTNA):c.877-8C>G rs764675965 0.00004
NM_001386795.1(DTNA):c.904G>A (p.Ala302Thr) rs199983981 0.00004
NM_001386795.1(DTNA):c.938G>A (p.Arg313His) rs780636786 0.00004
NM_001386795.1(DTNA):c.978G>A (p.Lys326=) rs200830541 0.00004
NM_001386795.1(DTNA):c.1082G>A (p.Arg361Lys) rs776353848 0.00003
NM_001386795.1(DTNA):c.149-15C>G rs752608761 0.00003
NM_001386795.1(DTNA):c.1637G>A (p.Arg546Gln) rs773504046 0.00003
NM_001386795.1(DTNA):c.1748A>G (p.Gln583Arg) rs769821768 0.00003
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu) rs145425478 0.00003
NM_001386795.1(DTNA):c.1965G>A (p.Met655Ile) rs749109824 0.00003
NM_001386795.1(DTNA):c.2156G>A (p.Gly719Asp) rs928341511 0.00003
NM_001386795.1(DTNA):c.449-19T>G rs1469662484 0.00003
NM_001386795.1(DTNA):c.497G>A (p.Arg166Gln) rs376007740 0.00003
NM_001386795.1(DTNA):c.515G>A (p.Arg172Gln) rs774940705 0.00003
NM_001386795.1(DTNA):c.536C>T (p.Thr179Met) rs752144270 0.00003
NM_001386795.1(DTNA):c.604-13T>G rs761037945 0.00003
NM_001386795.1(DTNA):c.604-7T>A rs766599616 0.00003
NM_001386795.1(DTNA):c.68-7G>A rs372126412 0.00003
NM_001386795.1(DTNA):c.937C>T (p.Arg313Cys) rs536920784 0.00003
NM_001386795.1(DTNA):c.1002-2338C>T rs201631418 0.00002
NM_001386795.1(DTNA):c.1291G>A (p.Asp431Asn) rs777304620 0.00002
NM_001386795.1(DTNA):c.154C>G (p.Leu52Val) rs780815924 0.00002
NM_001386795.1(DTNA):c.1603G>T (p.Ala535Ser) rs746736894 0.00002
NM_001386795.1(DTNA):c.172G>T (p.Val58Phe) rs769176953 0.00002
NM_001386795.1(DTNA):c.1776C>T (p.Pro592=) rs113072494 0.00002
NM_001386795.1(DTNA):c.177A>G (p.Ile59Met) rs1057518968 0.00002
NM_001386795.1(DTNA):c.182C>G (p.Ala61Gly) rs767620520 0.00002
NM_001386795.1(DTNA):c.1851G>A (p.Pro617=) rs756382217 0.00002
NM_001386795.1(DTNA):c.188G>A (p.Arg63Gln) rs766420415 0.00002
NM_001386795.1(DTNA):c.1993+11G>T rs540652495 0.00002
NM_001386795.1(DTNA):c.1993+9C>T rs573243965 0.00002
NM_001386795.1(DTNA):c.1994-18T>A rs772589214 0.00002
NM_001386795.1(DTNA):c.2094G>A (p.Ala698=) rs369914309 0.00002
NM_001386795.1(DTNA):c.2181T>A (p.Asp727Glu) rs564742185 0.00002
NM_001386795.1(DTNA):c.2227C>T (p.Arg743Trp) rs774768713 0.00002
NM_001386795.1(DTNA):c.2276T>C (p.Leu759Pro) rs766539608 0.00002
NM_001386795.1(DTNA):c.298C>T (p.His100Tyr) rs959010180 0.00002
NM_001386795.1(DTNA):c.354G>A (p.Ala118=) rs748607011 0.00002
NM_001386795.1(DTNA):c.362+18G>A rs771172339 0.00002
NM_001386795.1(DTNA):c.362+9C>T rs778158771 0.00002
NM_001386795.1(DTNA):c.362C>T (p.Pro121Leu) rs104894654 0.00002
NM_001386795.1(DTNA):c.642G>A (p.Met214Ile) rs745752400 0.00002
NM_001386795.1(DTNA):c.85C>T (p.Arg29Cys) rs781374642 0.00002
NM_001386795.1(DTNA):c.869C>T (p.Thr290Met) rs747834756 0.00002
NM_001386795.1(DTNA):c.*2581G>A rs1316954336 0.00001
NM_001386795.1(DTNA):c.1002-2320T>A rs1268810426 0.00001
NM_001386795.1(DTNA):c.1002-2332C>A rs1212752013 0.00001
NM_001386795.1(DTNA):c.1030G>A (p.Asp344Asn) rs374347283 0.00001
NM_001386795.1(DTNA):c.1251A>G (p.Lys417=) rs752820082 0.00001
NM_001386795.1(DTNA):c.1259A>G (p.Gln420Arg) rs754697522 0.00001
NM_001386795.1(DTNA):c.1309G>A (p.Gly437Arg) rs373427602 0.00001
NM_001386795.1(DTNA):c.1324A>G (p.Met442Val) rs763206573 0.00001
NM_001386795.1(DTNA):c.1345T>C (p.Cys449Arg) rs377526715 0.00001
NM_001386795.1(DTNA):c.1347-1G>A rs772088612 0.00001
NM_001386795.1(DTNA):c.1352T>C (p.Leu451Pro) rs2096416305 0.00001
NM_001386795.1(DTNA):c.1397G>C (p.Arg466Thr) rs762579551 0.00001
NM_001386795.1(DTNA):c.1435-11A>G rs758607581 0.00001
NM_001386795.1(DTNA):c.1444C>G (p.Gln482Glu) rs775527586 0.00001
NM_001386795.1(DTNA):c.146A>G (p.Asn49Ser) rs775975702 0.00001
NM_001386795.1(DTNA):c.1484C>T (p.Ala495Val) rs760288717 0.00001
NM_001386795.1(DTNA):c.1491G>A (p.Lys497=) rs397517444 0.00001
NM_001386795.1(DTNA):c.1532+17G>A rs777993752 0.00001
NM_001386795.1(DTNA):c.1533-6C>G rs1238846335 0.00001
NM_001386795.1(DTNA):c.1562G>A (p.Arg521Gln) rs530066221 0.00001
NM_001386795.1(DTNA):c.1598A>G (p.Glu533Gly) rs546897344 0.00001
NM_001386795.1(DTNA):c.1636C>T (p.Arg546Trp) rs371363393 0.00001
NM_001386795.1(DTNA):c.1692G>C (p.Glu564Asp) rs1477078144 0.00001
NM_001386795.1(DTNA):c.1695C>T (p.Ser565=) rs774966330 0.00001
NM_001386795.1(DTNA):c.1696C>T (p.Arg566Trp) rs1173408567 0.00001
NM_001386795.1(DTNA):c.174C>T (p.Val58=) rs145335092 0.00001
NM_001386795.1(DTNA):c.1753G>A (p.Ala585Thr) rs767501382 0.00001
NM_001386795.1(DTNA):c.1820C>T (p.Ala607Val) rs773170065 0.00001
NM_001386795.1(DTNA):c.1857C>T (p.Asp619=) rs1437954707 0.00001
NM_001386795.1(DTNA):c.1903+19T>C rs2096804951 0.00001
NM_001386795.1(DTNA):c.2101C>T (p.His701Tyr) rs772866088 0.00001
NM_001386795.1(DTNA):c.2186A>G (p.Tyr729Cys) rs756932426 0.00001
NM_001386795.1(DTNA):c.2195C>T (p.Pro732Leu) rs1456993704 0.00001
NM_001386795.1(DTNA):c.2200G>A (p.Asp734Asn) rs769251451 0.00001
NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe) rs533568822 0.00001
NM_001386795.1(DTNA):c.2228G>A (p.Arg743Gln) rs371303988 0.00001
NM_001386795.1(DTNA):c.2265G>A (p.Leu755=) rs1603352070 0.00001
NM_001386795.1(DTNA):c.2295+10T>A rs376012937 0.00001
NM_001386795.1(DTNA):c.2295+15G>A rs756945985 0.00001
NM_001386795.1(DTNA):c.264T>C (p.Ile88=) rs776672964 0.00001
NM_001386795.1(DTNA):c.282A>G (p.Lys94=) rs751436638 0.00001
NM_001386795.1(DTNA):c.295A>G (p.Thr99Ala) rs200736432 0.00001
NM_001386795.1(DTNA):c.322A>G (p.Ile108Val) rs1201061306 0.00001
NM_001386795.1(DTNA):c.476G>A (p.Ser159Asn) rs147115867 0.00001
NM_001386795.1(DTNA):c.481G>A (p.Val161Met) rs1302999147 0.00001
NM_001386795.1(DTNA):c.506A>G (p.Gln169Arg) rs201674479 0.00001
NM_001386795.1(DTNA):c.54G>A (p.Leu18=) rs754265551 0.00001
NM_001386795.1(DTNA):c.603+20A>G rs371565552 0.00001
NM_001386795.1(DTNA):c.615G>A (p.Thr205=) rs552069190 0.00001
NM_001386795.1(DTNA):c.633C>T (p.Asp211=) rs1425308391 0.00001
NM_001386795.1(DTNA):c.646G>T (p.Asp216Tyr) rs769662524 0.00001
NM_001386795.1(DTNA):c.660G>T (p.Gln220His) rs1031348434 0.00001
NM_001386795.1(DTNA):c.68-5A>G rs1243110074 0.00001
NM_001386795.1(DTNA):c.682C>T (p.Leu228=) rs2095588092 0.00001
NM_001386795.1(DTNA):c.695C>T (p.Ala232Val) rs771510372 0.00001
NM_001386795.1(DTNA):c.784C>T (p.His262Tyr) rs369043538 0.00001
NM_001386795.1(DTNA):c.824A>G (p.His275Arg) rs373047659 0.00001
NM_001386795.1(DTNA):c.829G>A (p.Gly277Ser) rs1196384917 0.00001
NM_001386795.1(DTNA):c.837T>A (p.Ser279=) rs560476760 0.00001
NM_001386795.1(DTNA):c.840T>C (p.His280=) rs933476610 0.00001
NM_001386795.1(DTNA):c.864G>A (p.Glu288=) rs778634462 0.00001
NM_001386795.1(DTNA):c.86G>A (p.Arg29His) rs1249921119 0.00001
NM_001386795.1(DTNA):c.876+16G>A rs913518501 0.00001
NM_001386795.1(DTNA):c.876+9A>G rs933087416 0.00001
NM_001386795.1(DTNA):c.93A>G (p.Arg31=) rs778817036 0.00001
NM_001386795.1(DTNA):c.944C>G (p.Pro315Arg) rs138085660 0.00001
NM_001386795.1(DTNA):c.969G>C (p.Gln323His) rs201472116 0.00001
NM_001386795.1(DTNA):c.96C>G (p.Leu32=) rs1162412939 0.00001
NC_000018.9:g.(?_32335941)_(32464709_?)dup
NC_000018.9:g.(?_32391903)_(32464709_?)dup
NM_001386795.1(DTNA):c.1001+10C>A rs2095698605
NM_001386795.1(DTNA):c.1001+12T>C
NM_001386795.1(DTNA):c.1001+7A>G rs2149448019
NM_001386795.1(DTNA):c.1002-19A>G
NM_001386795.1(DTNA):c.1002-2312T>C
NM_001386795.1(DTNA):c.1002-2319T>C
NM_001386795.1(DTNA):c.1002-2337G>A
NM_001386795.1(DTNA):c.1002-2340T>G
NM_001386795.1(DTNA):c.1002-7_1002-3del
NM_001386795.1(DTNA):c.1011A>C (p.Arg337Ser) rs2095889742
NM_001386795.1(DTNA):c.1028A>G (p.Asn343Ser) rs774372435
NM_001386795.1(DTNA):c.1028A>T (p.Asn343Ile) rs774372435
NM_001386795.1(DTNA):c.102C>T (p.Thr34=)
NM_001386795.1(DTNA):c.104A>G (p.Tyr35Cys)
NM_001386795.1(DTNA):c.1051G>A (p.Val351Ile)
NM_001386795.1(DTNA):c.1085+11A>G rs2149544048
NM_001386795.1(DTNA):c.1085+19A>T
NM_001386795.1(DTNA):c.114A>T (p.Ala38=) rs1005316955
NM_001386795.1(DTNA):c.1176-10T>C rs2149710302
NM_001386795.1(DTNA):c.1176-12C>T
NM_001386795.1(DTNA):c.1176-2A>G
NM_001386795.1(DTNA):c.1178C>G (p.Ser393Cys)
NM_001386795.1(DTNA):c.1179T>G (p.Ser393=)
NM_001386795.1(DTNA):c.117C>A (p.Cys39Ter)
NM_001386795.1(DTNA):c.1209C>T (p.Asn403=) rs1603062913
NM_001386795.1(DTNA):c.1219G>A (p.Ala407Thr)
NM_001386795.1(DTNA):c.1231C>G (p.Pro411Ala)
NM_001386795.1(DTNA):c.1248C>T (p.Gly416=)
NM_001386795.1(DTNA):c.1249A>G (p.Lys417Glu) rs2149711494
NM_001386795.1(DTNA):c.1253+18_1253+19delinsGT
NM_001386795.1(DTNA):c.1253+9C>T
NM_001386795.1(DTNA):c.1254-9C>T
NM_001386795.1(DTNA):c.1254-9_1254-8del rs1568718398
NM_001386795.1(DTNA):c.1260G>T (p.Gln420His) rs1603075327
NM_001386795.1(DTNA):c.1265del (p.Ser422fs)
NM_001386795.1(DTNA):c.1289C>T (p.Ala430Val) rs375890182
NM_001386795.1(DTNA):c.1317T>C (p.Tyr439=)
NM_001386795.1(DTNA):c.1331G>A (p.Arg444Gln)
NM_001386795.1(DTNA):c.1343C>A (p.Ser448Ter) rs2096209809
NM_001386795.1(DTNA):c.1343C>T (p.Ser448Leu)
NM_001386795.1(DTNA):c.1344A>C (p.Ser448=)
NM_001386795.1(DTNA):c.1347-19_1347-17del
NM_001386795.1(DTNA):c.1347-2A>T rs2149869841
NM_001386795.1(DTNA):c.1347-6T>C
NM_001386795.1(DTNA):c.1347C>T (p.Cys449=)
NM_001386795.1(DTNA):c.1349T>C (p.Met450Thr) rs956944215
NM_001386795.1(DTNA):c.1355A>G (p.Glu452Gly)
NM_001386795.1(DTNA):c.1414G>A (p.Ala472Thr) rs2096417016
NM_001386795.1(DTNA):c.1428T>C (p.Ser476=) rs2149870918
NM_001386795.1(DTNA):c.1435-3C>T
NM_001386795.1(DTNA):c.1442C>A (p.Pro481His) rs1354941224
NM_001386795.1(DTNA):c.148+1G>A
NM_001386795.1(DTNA):c.1483G>A (p.Ala495Thr)
NM_001386795.1(DTNA):c.148T>G (p.Leu50Val) rs1555778803
NM_001386795.1(DTNA):c.1498A>T (p.Arg500Trp)
NM_001386795.1(DTNA):c.1529A>G (p.Asn510Ser) rs1270254305
NM_001386795.1(DTNA):c.1532+18T>A
NM_001386795.1(DTNA):c.1532+18T>C rs115712655
NM_001386795.1(DTNA):c.1532+1G>T
NM_001386795.1(DTNA):c.1532+7C>T
NM_001386795.1(DTNA):c.153C>T (p.His51=) rs756884885
NM_001386795.1(DTNA):c.1560T>C (p.Leu520=)
NM_001386795.1(DTNA):c.1561C>T (p.Arg521Trp)
NM_001386795.1(DTNA):c.1566A>G (p.Leu522=)
NM_001386795.1(DTNA):c.1572T>C (p.His524=)
NM_001386795.1(DTNA):c.1589C>A (p.Pro530His)
NM_001386795.1(DTNA):c.15T>A (p.Ser5Arg)
NM_001386795.1(DTNA):c.15T>C (p.Ser5=) rs964404879
NM_001386795.1(DTNA):c.1619C>T (p.Thr540Ile)
NM_001386795.1(DTNA):c.1637G>T (p.Arg546Leu) rs773504046
NM_001386795.1(DTNA):c.163A>G (p.Ile55Val) rs1487690122
NM_001386795.1(DTNA):c.1646+11G>C
NM_001386795.1(DTNA):c.1646+13A>G
NM_001386795.1(DTNA):c.1646+17A>T rs376948940
NM_001386795.1(DTNA):c.1646+18T>C
NM_001386795.1(DTNA):c.1647-16G>T rs2150150416
NM_001386795.1(DTNA):c.1651C>T (p.Arg551Cys) rs2150150752
NM_001386795.1(DTNA):c.1671G>A (p.Gln557=)
NM_001386795.1(DTNA):c.1671G>C (p.Gln557His)
NM_001386795.1(DTNA):c.1676T>C (p.Met559Thr)
NM_001386795.1(DTNA):c.16G>C (p.Gly6Arg)
NM_001386795.1(DTNA):c.1708A>G (p.Met570Val) rs1250288261
NM_001386795.1(DTNA):c.1729A>G (p.Met577Val) rs370629863
NM_001386795.1(DTNA):c.1740A>G (p.Leu580=)
NM_001386795.1(DTNA):c.1743+14_1743+15delinsAT rs2150151636
NM_001386795.1(DTNA):c.1743+17A>G
NM_001386795.1(DTNA):c.1743+2825dup rs778058745
NM_001386795.1(DTNA):c.1743G>A (p.Lys581=)
NM_001386795.1(DTNA):c.1744-10G>A rs192561043
NM_001386795.1(DTNA):c.1744-10G>T rs192561043
NM_001386795.1(DTNA):c.1744-11T>C
NM_001386795.1(DTNA):c.1744-19A>G
NM_001386795.1(DTNA):c.1746T>C (p.Thr582=)
NM_001386795.1(DTNA):c.1756G>A (p.Gly586Ser) rs2150323740
NM_001386795.1(DTNA):c.1760C>G (p.Ser587Cys) rs766127967
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His) rs200246467
NM_001386795.1(DTNA):c.1770C>A (p.Ser590=) rs570093404
NM_001386795.1(DTNA):c.1770C>T (p.Ser590=)
NM_001386795.1(DTNA):c.1776C>A (p.Pro592=)
NM_001386795.1(DTNA):c.1776C>G (p.Pro592=)
NM_001386795.1(DTNA):c.1784C>T (p.Thr595Ile)
NM_001386795.1(DTNA):c.1786A>G (p.Ile596Val)
NM_001386795.1(DTNA):c.1792A>G (p.Arg598Gly)
NM_001386795.1(DTNA):c.1801C>A (p.Pro601Thr)
NM_001386795.1(DTNA):c.1810A>G (p.Ile604Val)
NM_001386795.1(DTNA):c.1814G>A (p.Arg605Gln)
NM_001386795.1(DTNA):c.1821G>C (p.Ala607=) rs9959365
NM_001386795.1(DTNA):c.1821G>T (p.Ala607=) rs9959365
NM_001386795.1(DTNA):c.1836C>T (p.Thr612=)
NM_001386795.1(DTNA):c.1853A>G (p.Gln618Arg) rs2096804507
NM_001386795.1(DTNA):c.1873G>A (p.Gly625Arg) rs2150324967
NM_001386795.1(DTNA):c.187C>A (p.Arg63=) rs773407468
NM_001386795.1(DTNA):c.187C>G (p.Arg63Gly) rs773407468
NM_001386795.1(DTNA):c.1886A>G (p.Gln629Arg)
NM_001386795.1(DTNA):c.1894T>A (p.Phe632Ile)
NM_001386795.1(DTNA):c.1896T>A (p.Phe632Leu)
NM_001386795.1(DTNA):c.1904-17T>C
NM_001386795.1(DTNA):c.1904-8C>G
NM_001386795.1(DTNA):c.1968C>T (p.Ser656=)
NM_001386795.1(DTNA):c.196G>T (p.Ala66Ser)
NM_001386795.1(DTNA):c.1971T>A (p.Ser657=)
NM_001386795.1(DTNA):c.1993+5G>A
NM_001386795.1(DTNA):c.1994-5G>A
NM_001386795.1(DTNA):c.1995G>A (p.Glu665=)
NM_001386795.1(DTNA):c.2001G>A (p.Gly667=)
NM_001386795.1(DTNA):c.2020G>A (p.Val674Met)
NM_001386795.1(DTNA):c.204del (p.Asn68fs)
NM_001386795.1(DTNA):c.2068C>T (p.Pro690Ser)
NM_001386795.1(DTNA):c.206A>C (p.Asn69Thr)
NM_001386795.1(DTNA):c.2086_2088dup (p.Phe696_Leu697insPhe)
NM_001386795.1(DTNA):c.2093C>T (p.Ala698Val) rs747872788
NM_001386795.1(DTNA):c.209T>C (p.Leu70Pro) rs1060503523
NM_001386795.1(DTNA):c.2114C>G (p.Pro705Arg)
NM_001386795.1(DTNA):c.2115del (p.Tyr707fs)
NM_001386795.1(DTNA):c.2118G>A (p.Gly706=) rs2150373256
NM_001386795.1(DTNA):c.2130T>A (p.Ser710Arg)
NM_001386795.1(DTNA):c.2131G>A (p.Gly711Arg) rs1320504182
NM_001386795.1(DTNA):c.2140A>G (p.Thr714Ala)
NM_001386795.1(DTNA):c.2150T>C (p.Met717Thr)
NM_001386795.1(DTNA):c.2152C>T (p.Arg718Cys)
NM_001386795.1(DTNA):c.2153G>T (p.Arg718Leu)
NM_001386795.1(DTNA):c.2158G>A (p.Asp720Asn)
NM_001386795.1(DTNA):c.2163-17C>T rs2150404797
NM_001386795.1(DTNA):c.2172G>C (p.Glu724Asp) rs1297383915
NM_001386795.1(DTNA):c.2173G>A (p.Asp725Asn)
NM_001386795.1(DTNA):c.2191C>T (p.Gln731Ter)
NM_001386795.1(DTNA):c.2194C>G (p.Pro732Ala)
NM_001386795.1(DTNA):c.2207A>G (p.Asn736Ser)
NM_001386795.1(DTNA):c.220A>G (p.Thr74Ala)
NM_001386795.1(DTNA):c.2216A>T (p.Asn739Ile)
NM_001386795.1(DTNA):c.2251A>T (p.Met751Leu)
NM_001386795.1(DTNA):c.2262C>T (p.Tyr754=)
NM_001386795.1(DTNA):c.2280A>G (p.Gln760=)
NM_001386795.1(DTNA):c.2295+10T>C rs376012937
NM_001386795.1(DTNA):c.2310T>C (p.Gly770=)
NM_001386795.1(DTNA):c.231C>T (p.Asn77=) rs147759402
NM_001386795.1(DTNA):c.232G>A (p.Val78Met) rs1175132407
NM_001386795.1(DTNA):c.236C>T (p.Ser79Phe) rs779579352
NM_001386795.1(DTNA):c.238C>T (p.Arg80Cys)
NM_001386795.1(DTNA):c.255C>A (p.Leu85=)
NM_001386795.1(DTNA):c.25G>C (p.Gly9Arg)
NM_001386795.1(DTNA):c.261T>C (p.Thr87=)
NM_001386795.1(DTNA):c.262A>G (p.Ile88Val)
NM_001386795.1(DTNA):c.267T>C (p.Phe89=) rs2149041135
NM_001386795.1(DTNA):c.271C>G (p.Gln91Glu)
NM_001386795.1(DTNA):c.284G>A (p.Arg95Gln) rs2094870463
NM_001386795.1(DTNA):c.293C>T (p.Thr98Ile)
NM_001386795.1(DTNA):c.317A>T (p.Gln106Leu)
NM_001386795.1(DTNA):c.31A>G (p.Thr11Ala)
NM_001386795.1(DTNA):c.320C>A (p.Ser107Tyr)
NM_001386795.1(DTNA):c.325A>G (p.Ser109Gly) rs730880094
NM_001386795.1(DTNA):c.333C>T (p.Leu111=) rs2149041765
NM_001386795.1(DTNA):c.353C>T (p.Ala118Val)
NM_001386795.1(DTNA):c.362+14del rs2149042288
NM_001386795.1(DTNA):c.362+7A>G
NM_001386795.1(DTNA):c.363-12_363-8del rs2149252560
NM_001386795.1(DTNA):c.363-17C>A rs578249361
NM_001386795.1(DTNA):c.363-9A>G rs886053771
NM_001386795.1(DTNA):c.364G>A (p.Glu122Lys)
NM_001386795.1(DTNA):c.368G>A (p.Gly123Asp) rs1435037181
NM_001386795.1(DTNA):c.372T>C (p.His124=)
NM_001386795.1(DTNA):c.381T>A (p.Ile127=) rs958850248
NM_001386795.1(DTNA):c.381T>G (p.Ile127Met) rs958850248
NM_001386795.1(DTNA):c.403G>T (p.Ala135Ser) rs2149253090
NM_001386795.1(DTNA):c.433A>T (p.Met145Leu) rs982526159
NM_001386795.1(DTNA):c.436G>C (p.Asp146His)
NM_001386795.1(DTNA):c.442T>A (p.Leu148Ile)
NM_001386795.1(DTNA):c.443T>C (p.Leu148Ser)
NM_001386795.1(DTNA):c.448+17del rs754687179
NM_001386795.1(DTNA):c.472T>G (p.Ser158Ala) rs2149331739
NM_001386795.1(DTNA):c.48A>G (p.Arg16=) rs2148227417
NM_001386795.1(DTNA):c.4A>G (p.Ile2Val)
NM_001386795.1(DTNA):c.4A>T (p.Ile2Phe) rs984784834
NM_001386795.1(DTNA):c.504C>T (p.Asp168=) rs1602476332
NM_001386795.1(DTNA):c.507A>G (p.Gln169=)
NM_001386795.1(DTNA):c.514C>T (p.Arg172Trp)
NM_001386795.1(DTNA):c.529C>T (p.Leu177=)
NM_001386795.1(DTNA):c.535A>G (p.Thr179Ala)
NM_001386795.1(DTNA):c.537G>A (p.Thr179=) rs11877640
NM_001386795.1(DTNA):c.552T>G (p.Gly184=)
NM_001386795.1(DTNA):c.558A>T (p.Ser186=)
NM_001386795.1(DTNA):c.560T>G (p.Phe187Cys)
NM_001386795.1(DTNA):c.590G>C (p.Cys197Ser)
NM_001386795.1(DTNA):c.602A>G (p.Gln201Arg)
NM_001386795.1(DTNA):c.603+3A>G rs2095496828
NM_001386795.1(DTNA):c.603+3dup
NM_001386795.1(DTNA):c.603+7G>C rs1602477433
NM_001386795.1(DTNA):c.604-10T>C rs2095586366
NM_001386795.1(DTNA):c.604-16G>A
NM_001386795.1(DTNA):c.605A>G (p.Lys202Arg)
NM_001386795.1(DTNA):c.647A>T (p.Asp216Val)
NM_001386795.1(DTNA):c.654C>A (p.Pro218=) rs1478981280
NM_001386795.1(DTNA):c.667G>T (p.Val223Phe)
NM_001386795.1(DTNA):c.67+7A>G
NM_001386795.1(DTNA):c.67+8T>C rs979990151
NM_001386795.1(DTNA):c.675G>C (p.Leu225Phe) rs376519672
NM_001386795.1(DTNA):c.68-10C>T
NM_001386795.1(DTNA):c.68-6C>T
NM_001386795.1(DTNA):c.684G>T (p.Leu228=)
NM_001386795.1(DTNA):c.709+20C>T
NM_001386795.1(DTNA):c.709+8G>C
NM_001386795.1(DTNA):c.710-11T>G
NM_001386795.1(DTNA):c.710-4T>G rs2149411883
NM_001386795.1(DTNA):c.710-5dup
NM_001386795.1(DTNA):c.750T>C (p.Ser250=) rs758308153
NM_001386795.1(DTNA):c.754A>G (p.Met252Val)
NM_001386795.1(DTNA):c.754A>T (p.Met252Leu)
NM_001386795.1(DTNA):c.770G>A (p.Arg257Gln)
NM_001386795.1(DTNA):c.780G>A (p.Gln260=)
NM_001386795.1(DTNA):c.78T>C (p.Asp26=)
NM_001386795.1(DTNA):c.79C>T (p.Leu27=)
NM_001386795.1(DTNA):c.813C>T (p.Phe271=)
NM_001386795.1(DTNA):c.821G>A (p.Gly274Glu)
NM_001386795.1(DTNA):c.823C>T (p.His275Tyr) rs1555826918
NM_001386795.1(DTNA):c.828C>T (p.Ala276=) rs756146461
NM_001386795.1(DTNA):c.842G>A (p.Ser281Asn) rs2095638594
NM_001386795.1(DTNA):c.872_875dup (p.Trp292fs) rs2095638924
NM_001386795.1(DTNA):c.877-16T>G rs2095695411
NM_001386795.1(DTNA):c.877-6T>C rs1555830507
NM_001386795.1(DTNA):c.879A>G (p.Lys293=) rs2095695910
NM_001386795.1(DTNA):c.883C>T (p.Pro295Ser)
NM_001386795.1(DTNA):c.88A>T (p.Ile30Phe) rs1480526218
NM_001386795.1(DTNA):c.894G>T (p.Lys298Asn) rs2095696064
NM_001386795.1(DTNA):c.906A>C (p.Ala302=) rs1060504938
NM_001386795.1(DTNA):c.921G>A (p.Leu307=)
NM_001386795.1(DTNA):c.953C>A (p.Pro318His) rs727505085
NM_001386795.1(DTNA):c.961C>G (p.Pro321Ala)
NM_001386795.1(DTNA):c.977A>G (p.Lys326Arg)
NM_001386795.1(DTNA):c.98C>T (p.Ser33Phe)
NM_001386795.1(DTNA):c.991G>A (p.Ala331Thr)
NM_001386795.1(DTNA):c.998T>G (p.Ile333Ser)
NM_001386795.1(DTNA):c.9A>T (p.Glu3Asp)

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