ClinVar Miner

List of variants reported as uncertain significance for adrenal gland disease by Invitae

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2247
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_160786670)_(161332233_?)dup
NC_000001.10:g.(?_161284186)_(161332233_?)dup
NC_000001.10:g.(?_161284190)_(161332229_?)dup
NC_000001.10:g.(?_161293394)_(161332233_?)dup
NC_000001.10:g.(?_161293398)_(161332229_?)dup
NC_000001.10:g.(?_161293404)_(161293460_?)del
NC_000001.10:g.(?_161310374)_(161332233_?)dup
NC_000001.10:g.(?_161310378)_(161332229_?)dup
NC_000001.10:g.(?_161326457)_(161332233_?)dup
NC_000001.10:g.(?_161326461)_(161332229_?)dup
NC_000001.10:g.(?_17345217)_(17345453_?)del
NC_000001.10:g.(?_17345217)_(17380665_?)dup
NC_000001.10:g.(?_17345366)_(17380524_?)dup
NC_000001.10:g.(?_17345370)_(17355237_?)dup
NC_000001.10:g.(?_17359545)_(17380524_?)dup
NC_000001.10:g.(?_17371246)_(17380524_?)dup
NC_000002.11:g.(?_96919536)_(96931129_?)dup
NC_000003.11:g.(?_10094061)_(10191659_?)dup
NC_000003.11:g.(?_10106403)_(10191659_?)dup
NC_000003.11:g.(?_10183526)_(10191655_?)dup
NC_000003.11:g.(?_10188188)_(10188330_?)dup
NC_000003.11:g.(?_10191461)_(10191659_?)dup
NC_000003.11:g.(?_10191471)_(10195354_?)dup
NC_000011.9:g.(?_111957622)_(111965704_?)dup
NC_000011.9:g.(?_61205087)_(61213553_?)dup
NC_000017.10:g.(?_7572917)_(7579922_?)dup
NC_000017.10:g.(?_7572921)_(7579918_?)dup
NC_000017.10:g.(?_7576843)_(7591611_?)dup
NC_000017.10:g.(?_7576847)_(7591611_?)dup
NC_000017.10:g.(?_7578171)_(7579918_?)dup
NC_000017.10:g.(?_7589449)_(7590046_?)dup
NC_000021.8:g.(?_45629566)_(46330717_?)dup
NC_000021.8:g.(?_45713652)_(45717630_?)dup
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys) rs781983308
NM_000033.4(ABCD1):c.1157C>G (p.Thr386Ser)
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val) rs1324874967
NM_000033.4(ABCD1):c.1183G>C (p.Ala395Pro) rs1557054176
NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val) rs1432758988
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) rs1569541035
NM_000033.4(ABCD1):c.1523C>A (p.Pro508His) rs1569541087
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser) rs782158792
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp) rs782370364
NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe) rs1159943880
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn) rs1569541092
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu)
NM_000033.4(ABCD1):c.1644G>A (p.Met548Ile) rs1569541112
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn) rs1569541122
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=) rs1557055319
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly)
NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu) rs1557055340
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile) rs1557055398
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile)
NM_000033.4(ABCD1):c.2131C>T (p.Arg711Trp)
NM_000033.4(ABCD1):c.2134C>T (p.Arg712Cys) rs1557055441
NM_000033.4(ABCD1):c.2188C>T (p.Pro730Ser)
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del) rs1569540680
NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup)
NM_000033.4(ABCD1):c.238C>T (p.Arg80Trp) rs868977355
NM_000033.4(ABCD1):c.298G>C (p.Ala100Pro)
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp)
NM_000033.4(ABCD1):c.412_414CTC[1] (p.Leu139del) rs1557052351
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942
NM_000033.4(ABCD1):c.433A>G (p.Thr145Ala) rs1292006620
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr) rs1569540692
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)
NM_000033.4(ABCD1):c.50G>A (p.Arg17His)
NM_000033.4(ABCD1):c.515G>A (p.Arg172His)
NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly)
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu) rs1569540703
NM_000033.4(ABCD1):c.638C>A (p.Ser213Tyr)
NM_000033.4(ABCD1):c.647C>T (p.Thr216Ile)
NM_000033.4(ABCD1):c.673A>G (p.Thr225Ala)
NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu) rs782723557
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)
NM_000033.4(ABCD1):c.773T>C (p.Leu258Pro) rs1569540731
NM_000033.4(ABCD1):c.794T>C (p.Phe265Ser)
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.4(ABCD1):c.876G>C (p.Glu292Asp) rs1557052573
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.988_1005del (p.Leu330_Met335del)
NM_000244.3(MEN1):c.-2C>T rs653534
NM_000244.3(MEN1):c.1003C>T (p.Arg335Cys) rs1565644005
NM_000244.3(MEN1):c.1004G>A (p.Arg335His) rs373135175
NM_000244.3(MEN1):c.1004G>C (p.Arg335Pro) rs373135175
NM_000244.3(MEN1):c.1004G>T (p.Arg335Leu) rs373135175
NM_000244.3(MEN1):c.100C>A (p.Leu34Met) rs771554497
NM_000244.3(MEN1):c.1018C>T (p.Arg340Trp) rs371364206
NM_000244.3(MEN1):c.1019G>A (p.Arg340Gln) rs764998893
NM_000244.3(MEN1):c.1024G>C (p.Ala342Pro) rs2071312
NM_000244.3(MEN1):c.1027C>G (p.Leu343Val) rs759337318
NM_000244.3(MEN1):c.1039G>C (p.Ala347Pro) rs776561706
NM_000244.3(MEN1):c.1040C>T (p.Ala347Val) rs377715802
NM_000244.3(MEN1):c.1044C>G (p.Asp348Glu) rs878855185
NM_000244.3(MEN1):c.1046C>T (p.Thr349Met) rs1259681826
NM_000244.3(MEN1):c.1055T>A (p.Val352Asp)
NM_000244.3(MEN1):c.1073A>C (p.Tyr358Ser)
NM_000244.3(MEN1):c.1075T>C (p.Cys359Arg) rs371503251
NM_000244.3(MEN1):c.1076G>A (p.Cys359Tyr) rs904261642
NM_000244.3(MEN1):c.1078C>A (p.Arg360=) rs863224807
NM_000244.3(MEN1):c.1078C>T (p.Arg360Trp) rs863224807
NM_000244.3(MEN1):c.1079G>A (p.Arg360Gln) rs1114167474
NM_000244.3(MEN1):c.1084G>A (p.Asp362Asn)
NM_000244.3(MEN1):c.1087_1089GAG[1] (p.Glu364del) rs1060499971
NM_000244.3(MEN1):c.108_122dup (p.Leu37_Leu41dup) rs1555166695
NM_000244.3(MEN1):c.1107C>A (p.Phe369Leu) rs863224808
NM_000244.3(MEN1):c.1108T>C (p.Phe370Leu)
NM_000244.3(MEN1):c.1113A>T (p.Glu371Asp) rs149383809
NM_000244.3(MEN1):c.1114G>A (p.Val372Ile) rs758404089
NM_000244.3(MEN1):c.1138C>G (p.Leu380Val) rs1211957325
NM_000244.3(MEN1):c.1145A>G (p.Lys382Arg) rs766075737
NM_000244.3(MEN1):c.1154C>G (p.Ala385Gly) rs1565642307
NM_000244.3(MEN1):c.1169C>T (p.Ala390Val) rs1298484645
NM_000244.3(MEN1):c.1172G>A (p.Gly391Asp) rs761360623
NM_000244.3(MEN1):c.1173C>T (p.Gly391=) rs794728653
NM_000244.3(MEN1):c.1174G>A (p.Glu392Lys) rs773978650
NM_000244.3(MEN1):c.1180C>T (p.Arg394Trp) rs566593066
NM_000244.3(MEN1):c.1181G>A (p.Arg394Gln) rs775267651
NM_000244.3(MEN1):c.1181G>C (p.Arg394Pro)
NM_000244.3(MEN1):c.1184C>G (p.Pro395Arg) rs761102084
NM_000244.3(MEN1):c.1184C>T (p.Pro395Leu) rs761102084
NM_000244.3(MEN1):c.1192C>G (p.Gln398Glu) rs1060499984
NM_000244.3(MEN1):c.1196G>C (p.Ser399Thr) rs934222398
NM_000244.3(MEN1):c.119_124del (p.Val40_Leu41del) rs386134248
NM_000244.3(MEN1):c.11A>C (p.Lys4Thr)
NM_000244.3(MEN1):c.1200+4A>G rs863224809
NM_000244.3(MEN1):c.1200+5A>G
NM_000244.3(MEN1):c.1209G>C (p.Gln403His)
NM_000244.3(MEN1):c.1217G>T (p.Gly406Val) rs878855186
NM_000244.3(MEN1):c.1222G>A (p.Ala408Thr) rs746135199
NM_000244.3(MEN1):c.1225C>T (p.Leu409Phe) rs1060499989
NM_000244.3(MEN1):c.1234C>G (p.Pro412Ala) rs1060499985
NM_000244.3(MEN1):c.1241G>A (p.Cys414Tyr) rs1060499988
NM_000244.3(MEN1):c.1246G>A (p.Ala416Thr) rs757179911
NM_000244.3(MEN1):c.1246G>T (p.Ala416Ser) rs757179911
NM_000244.3(MEN1):c.1259G>A (p.Arg420Gln) rs1446518998
NM_000244.3(MEN1):c.1259G>C (p.Arg420Pro) rs1446518998
NM_000244.3(MEN1):c.125G>C (p.Gly42Ala)
NM_000244.3(MEN1):c.1269C>G (p.Asp423Glu)
NM_000244.3(MEN1):c.1282T>C (p.Trp428Arg) rs1555164270
NM_000244.3(MEN1):c.1294A>C (p.Ser432Arg) rs1555164245
NM_000244.3(MEN1):c.129C>G (p.Phe43Leu)
NM_000244.3(MEN1):c.133G>A (p.Glu45Lys) rs1114167491
NM_000244.3(MEN1):c.1348G>T (p.Gly450Cys) rs1555164153
NM_000244.3(MEN1):c.1351C>T (p.Arg451Cys)
NM_000244.3(MEN1):c.1352G>A (p.Arg451His) rs1555164143
NM_000244.3(MEN1):c.135G>C (p.Glu45Asp) rs778670301
NM_000244.3(MEN1):c.1365+4_1365+6del rs1565639798
NM_000244.3(MEN1):c.1365+5G>A rs1565639811
NM_000244.3(MEN1):c.1365+6G>A
NM_000244.3(MEN1):c.1366-8T>G rs751932519
NM_000244.3(MEN1):c.1366-9C>G
NM_000244.3(MEN1):c.1369C>T (p.Arg457Trp) rs863224810
NM_000244.3(MEN1):c.1370G>A (p.Arg457Gln)
NM_000244.3(MEN1):c.1379T>A (p.Val460Glu) rs878855189
NM_000244.3(MEN1):c.1382G>A (p.Arg461His) rs372468697
NM_000244.3(MEN1):c.1394G>A (p.Arg465Gln) rs200035619
NM_000244.3(MEN1):c.1394G>C (p.Arg465Pro) rs200035619
NM_000244.3(MEN1):c.1404G>C (p.Glu468Asp) rs1555163863
NM_000244.3(MEN1):c.1406C>T (p.Ala469Val) rs778728934
NM_000244.3(MEN1):c.1406_1411dup (p.Ala469_Ala470dup) rs1555163821
NM_000244.3(MEN1):c.1406_1420del (p.Ala469_Glu473del)
NM_000244.3(MEN1):c.1408_1422del (p.Ala470_Glu474del) rs1064792907
NM_000244.3(MEN1):c.1409_1417dup (p.467_469AEA[3])
NM_000244.3(MEN1):c.1412A>T (p.Glu471Val) rs1352053477
NM_000244.3(MEN1):c.1413G>T (p.Glu471Asp) rs990566024
NM_000244.3(MEN1):c.1414G>A (p.Ala472Thr) rs779589005
NM_000244.3(MEN1):c.1422_1436del (p.Pro475_Glu479del) rs1033303123
NM_000244.3(MEN1):c.1431C>T (p.Gly477=) rs764509990
NM_000244.3(MEN1):c.1439_1447del (p.Ala480_Glu482del)
NM_000244.3(MEN1):c.1444G>C (p.Glu482Gln) rs863224526
NM_000244.3(MEN1):c.1446A>T (p.Glu482Asp) rs863224811
NM_000244.3(MEN1):c.1451G>C (p.Arg484Pro) rs1555163716
NM_000244.3(MEN1):c.1468C>T (p.Arg490Trp) rs1254459338
NM_000244.3(MEN1):c.146C>T (p.Ala49Val) rs1555166674
NM_000244.3(MEN1):c.1474T>C (p.Ser492Pro) rs1057427859
NM_000244.3(MEN1):c.1480C>T (p.Pro494Ser) rs587778440
NM_000244.3(MEN1):c.1493C>T (p.Pro498Leu) rs766604600
NM_000244.3(MEN1):c.1496C>T (p.Pro499Leu) rs1060499993
NM_000244.3(MEN1):c.1507C>G (p.Pro503Ala)
NM_000244.3(MEN1):c.1521G>C (p.Lys507Asn) rs774296730
NM_000244.3(MEN1):c.1531A>C (p.Thr511Pro) rs1060499994
NM_000244.3(MEN1):c.1532C>T (p.Thr511Ile) rs1347992299
NM_000244.3(MEN1):c.1534G>T (p.Gly512Cys) rs1423874145
NM_000244.3(MEN1):c.1537C>A (p.Gln513Lys) rs386833403
NM_000244.3(MEN1):c.1541G>T (p.Gly514Val) rs769355346
NM_000244.3(MEN1):c.1550C>T (p.Ser517Leu) rs141679530
NM_000244.3(MEN1):c.1555C>A (p.Pro519Thr) rs150202288
NM_000244.3(MEN1):c.1555C>T (p.Pro519Ser)
NM_000244.3(MEN1):c.1556C>G (p.Pro519Arg) rs753022747
NM_000244.3(MEN1):c.1556C>T (p.Pro519Leu) rs753022747
NM_000244.3(MEN1):c.1561C>G (p.Arg521Gly)
NM_000244.3(MEN1):c.1562G>A (p.Arg521Gln)
NM_000244.3(MEN1):c.1567C>T (p.Pro523Ser)
NM_000244.3(MEN1):c.1576A>T (p.Thr526Ser) rs1565636917
NM_000244.3(MEN1):c.1577C>G (p.Thr526Ser)
NM_000244.3(MEN1):c.1577C>T (p.Thr526Ile) rs1565636898
NM_000244.3(MEN1):c.1579G>C (p.Val527Leu) rs1060499983
NM_000244.3(MEN1):c.1582G>A (p.Ala528Thr) rs760683615
NM_000244.3(MEN1):c.1582G>C (p.Ala528Pro) rs760683615
NM_000244.3(MEN1):c.1598G>A (p.Gly533Asp) rs1555163392
NM_000244.3(MEN1):c.1609G>T (p.Gly537Cys) rs587780843
NM_000244.3(MEN1):c.1625T>G (p.Val542Gly)
NM_000244.3(MEN1):c.1633C>T (p.Pro545Ser) rs745404679
NM_000244.3(MEN1):c.1636G>C (p.Ala546Pro)
NM_000244.3(MEN1):c.1643C>T (p.Ser548Leu)
NM_000244.3(MEN1):c.1648_1650CCG[3] (p.Pro551dup) rs774350463
NM_000244.3(MEN1):c.1652C>T (p.Pro551Leu) rs779413959
NM_000244.3(MEN1):c.1655A>G (p.Glu552Gly) rs914488914
NM_000244.3(MEN1):c.1663G>C (p.Val555Leu)
NM_000244.3(MEN1):c.16G>T (p.Ala6Ser) rs966793401
NM_000244.3(MEN1):c.175C>G (p.Pro59Ala) rs1352823623
NM_000244.3(MEN1):c.1769T>G (p.Val590Gly)
NM_000244.3(MEN1):c.176C>G (p.Pro59Arg)
NM_000244.3(MEN1):c.1776G>A (p.Met592Ile) rs1555163058
NM_000244.3(MEN1):c.1777_1779AAG[1] (p.Lys594del) rs1303070443
NM_000244.3(MEN1):c.177C>T (p.Pro59=) rs749001511
NM_000244.3(MEN1):c.1792T>C (p.Ser598Pro) rs1411766225
NM_000244.3(MEN1):c.1811_1812CT[1] (p.Leu605fs) rs1555163017
NM_000244.3(MEN1):c.1841G>T (p.Gly614Val) rs1186858249
NM_000244.3(MEN1):c.184A>C (p.Thr62Pro) rs1555166619
NM_000244.3(MEN1):c.188T>A (p.Phe63Tyr)
NM_000244.3(MEN1):c.189C>G (p.Phe63Leu) rs137880635
NM_000244.3(MEN1):c.193C>A (p.Pro65Thr) rs1235900915
NM_000244.3(MEN1):c.202G>A (p.Ala68Thr) rs1343345477
NM_000244.3(MEN1):c.203C>T (p.Ala68Val) rs1319371332
NM_000244.3(MEN1):c.205C>T (p.Pro69Ser) rs1060499995
NM_000244.3(MEN1):c.208G>T (p.Asp70Tyr)
NM_000244.3(MEN1):c.210C>A (p.Asp70Glu) rs150308912
NM_000244.3(MEN1):c.211C>T (p.Pro71Ser)
NM_000244.3(MEN1):c.215C>A (p.Pro72His)
NM_000244.3(MEN1):c.236C>G (p.Pro79Arg) rs1555166557
NM_000244.3(MEN1):c.236C>T (p.Pro79Leu)
NM_000244.3(MEN1):c.244G>C (p.Asp82His) rs1419086083
NM_000244.3(MEN1):c.246C>G (p.Asp82Glu) rs1238113583
NM_000244.3(MEN1):c.266_286del (p.Leu89_Ala95del) rs1064792906
NM_000244.3(MEN1):c.267C>G (p.Leu89=) rs1060499972
NM_000244.3(MEN1):c.269A>G (p.Tyr90Cys) rs1565651873
NM_000244.3(MEN1):c.281C>T (p.Thr94Ile) rs1565651820
NM_000244.3(MEN1):c.283G>T (p.Ala95Ser)
NM_000244.3(MEN1):c.293G>A (p.Arg98Gln)
NM_000244.3(MEN1):c.298G>T (p.Ala100Ser)
NM_000244.3(MEN1):c.299C>T (p.Ala100Val) rs998337367
NM_000244.3(MEN1):c.317A>G (p.Tyr106Cys) rs1555166469
NM_000244.3(MEN1):c.322C>G (p.Arg108Gly)
NM_000244.3(MEN1):c.326A>G (p.Glu109Gly) rs1555166447
NM_000244.3(MEN1):c.327A>C (p.Glu109Asp) rs773976527
NM_000244.3(MEN1):c.343C>G (p.Arg115Gly) rs1565651402
NM_000244.3(MEN1):c.344G>A (p.Arg115His) rs1114167507
NM_000244.3(MEN1):c.352G>A (p.Val118Met) rs1060499975
NM_000244.3(MEN1):c.361G>A (p.Val121Ile) rs863224812
NM_000244.3(MEN1):c.361G>T (p.Val121Phe)
NM_000244.3(MEN1):c.366C>T (p.Ser122=)
NM_000244.3(MEN1):c.38T>C (p.Leu13Pro)
NM_000244.3(MEN1):c.38T>G (p.Leu13Arg) rs1262285748
NM_000244.3(MEN1):c.398A>G (p.Tyr133Cys) rs1555166357
NM_000244.3(MEN1):c.403A>C (p.Lys135Gln) rs121913034
NM_000244.3(MEN1):c.40C>T (p.Arg14Cys)
NM_000244.3(MEN1):c.418A>T (p.Ile140Phe) rs376510601
NM_000244.3(MEN1):c.461-3C>A rs377461506
NM_000244.3(MEN1):c.473A>T (p.Asp158Val) rs1565648789
NM_000244.3(MEN1):c.481G>A (p.Gly161Ser)
NM_000244.3(MEN1):c.482G>A (p.Gly161Asp) rs794728648
NM_000244.3(MEN1):c.484G>A (p.Val162Met) rs1555165872
NM_000244.3(MEN1):c.488C>A (p.Ala163Asp) rs794728617
NM_000244.3(MEN1):c.488C>T (p.Ala163Val)
NM_000244.3(MEN1):c.49G>A (p.Asp17Asn) rs1399824473
NM_000244.3(MEN1):c.500T>C (p.Val167Ala) rs748648909
NM_000244.3(MEN1):c.505G>T (p.Ala169Ser)
NM_000244.3(MEN1):c.506C>T (p.Ala169Val) rs1565648547
NM_000244.3(MEN1):c.509G>A (p.Cys170Tyr) rs1057521111
NM_000244.3(MEN1):c.517C>G (p.Leu173Val) rs1555165846
NM_000244.3(MEN1):c.518T>C (p.Leu173Pro) rs386134256
NM_000244.3(MEN1):c.526C>T (p.Arg176Trp) rs143329068
NM_000244.3(MEN1):c.541G>T (p.Ala181Ser) rs376872829
NM_000244.3(MEN1):c.544C>G (p.Leu182Val)
NM_000244.3(MEN1):c.552_553delinsTT (p.Glu184_Asp185delinsAspTyr) rs1555165809
NM_000244.3(MEN1):c.569T>C (p.Val190Ala) rs764847812
NM_000244.3(MEN1):c.578C>T (p.Pro193Leu) rs199706698
NM_000244.3(MEN1):c.581A>G (p.Asn194Ser) rs587780844
NM_000244.3(MEN1):c.583G>A (p.Gly195Arg) rs1555165742
NM_000244.3(MEN1):c.584G>A (p.Gly195Glu) rs878855195
NM_000244.3(MEN1):c.593C>G (p.Thr198Arg)
NM_000244.3(MEN1):c.5G>A (p.Gly2Glu)
NM_000244.3(MEN1):c.605C>T (p.Thr202Ile)
NM_000244.3(MEN1):c.612C>A (p.His204Gln) rs150512958
NM_000244.3(MEN1):c.613G>A (p.Gly205Ser)
NM_000244.3(MEN1):c.61C>G (p.Arg21Gly) rs541476418
NM_000244.3(MEN1):c.632G>A (p.Arg211His) rs1565647825
NM_000244.3(MEN1):c.633C>T (p.Arg211=) rs1555165717
NM_000244.3(MEN1):c.642G>C (p.Gln214His) rs1565647751
NM_000244.3(MEN1):c.644C>G (p.Thr215Arg) rs756287855
NM_000244.3(MEN1):c.647T>G (p.Val216Gly) rs1565647698
NM_000244.3(MEN1):c.649A>G (p.Asn217Asp) rs1060499980
NM_000244.3(MEN1):c.650A>G (p.Asn217Ser) rs1438685841
NM_000244.3(MEN1):c.655G>A (p.Gly219Ser) rs781493730
NM_000244.3(MEN1):c.658G>A (p.Val220Met) rs794728621
NM_000244.3(MEN1):c.659_667delinsGCCCCT (p.Val220_Arg223delinsGlyProTrp) rs386134257
NM_000244.3(MEN1):c.661G>C (p.Ala221Pro)
NM_000244.3(MEN1):c.667C>T (p.Arg223Trp) rs794728620
NM_000244.3(MEN1):c.670-5C>G rs752563214
NM_000244.3(MEN1):c.670-6_670-4del rs1555165623
NM_000244.3(MEN1):c.670-7C>A rs771297371
NM_000244.3(MEN1):c.675G>T (p.Trp225Cys)
NM_000244.3(MEN1):c.680A>C (p.Tyr227Ser) rs1555165601
NM_000244.3(MEN1):c.697A>G (p.Met233Val) rs1060499982
NM_000244.3(MEN1):c.701G>A (p.Arg234His) rs878855197
NM_000244.3(MEN1):c.709C>T (p.Arg237Cys) rs1225847249
NM_000244.3(MEN1):c.711C>T (p.Arg237=)
NM_000244.3(MEN1):c.713A>C (p.Lys238Thr)
NM_000244.3(MEN1):c.717G>A (p.Met239Ile) rs1448041546
NM_000244.3(MEN1):c.71C>T (p.Ala24Val) rs1328062930
NM_000244.3(MEN1):c.725C>T (p.Ala242Val) rs760289964
NM_000244.3(MEN1):c.737G>A (p.Cys246Tyr) rs794728624
NM_000244.3(MEN1):c.74C>T (p.Ala25Val) rs1462138625
NM_000244.3(MEN1):c.751T>G (p.Ser251Ala) rs1175283759
NM_000244.3(MEN1):c.754A>G (p.Ile252Val) rs1555165508
NM_000244.3(MEN1):c.769G>C (p.Asp257His)
NM_000244.3(MEN1):c.769G>T (p.Asp257Tyr) rs770368608
NM_000244.3(MEN1):c.76G>A (p.Glu26Lys) rs28931612
NM_000244.3(MEN1):c.773C>G (p.Ser258Trp) rs386134259
NM_000244.3(MEN1):c.773C>T (p.Ser258Leu) rs386134259
NM_000244.3(MEN1):c.778G>C (p.Glu260Gln) rs104894268
NM_000244.3(MEN1):c.781C>T (p.Leu261Phe) rs878855198
NM_000244.3(MEN1):c.785_790TGCAGC[3] (p.262_263LQ[3]) rs1555165485
NM_000244.3(MEN1):c.787C>G (p.Gln263Glu)
NM_000244.3(MEN1):c.789G>C (p.Gln263His) rs374659656
NM_000244.3(MEN1):c.799-10C>A rs71526470
NM_000244.3(MEN1):c.800A>G (p.Lys267Arg) rs1555165373
NM_000244.3(MEN1):c.803T>C (p.Leu268Pro) rs1114167502
NM_000244.3(MEN1):c.816C>G (p.Leu272=)
NM_000244.3(MEN1):c.818A>G (p.Tyr273Cys) rs773500082
NM_000244.3(MEN1):c.820G>A (p.Asp274Asn) rs878855199
NM_000244.3(MEN1):c.826G>A (p.Gly276Arg) rs1565645918
NM_000244.3(MEN1):c.833T>C (p.Leu278Pro)
NM_000244.3(MEN1):c.838A>G (p.Arg280Gly)
NM_000244.3(MEN1):c.840-10C>G rs999121619
NM_000244.3(MEN1):c.842A>G (p.Tyr281Cys) rs1555165327
NM_000244.3(MEN1):c.845C>A (p.Pro282His) rs1060499973
NM_000244.3(MEN1):c.845C>T (p.Pro282Leu) rs1060499973
NM_000244.3(MEN1):c.848T>G (p.Met283Arg)
NM_000244.3(MEN1):c.854T>C (p.Leu285Ser)
NM_000244.3(MEN1):c.883G>A (p.Glu295Lys)
NM_000244.3(MEN1):c.884A>C (p.Glu295Ala) rs1213891703
NM_000244.3(MEN1):c.884A>T (p.Glu295Val)
NM_000244.3(MEN1):c.895G>A (p.Gly299Ser) rs1565645429
NM_000244.3(MEN1):c.898C>T (p.Arg300Trp) rs1046929915
NM_000244.3(MEN1):c.899G>A (p.Arg300Gln) rs1397110438
NM_000244.3(MEN1):c.907C>G (p.Pro303Ala) rs1555165268
NM_000244.3(MEN1):c.923A>G (p.His308Arg)
NM_000244.3(MEN1):c.927+5G>A
NM_000244.3(MEN1):c.928G>A (p.Gly310Ser) rs1555165146
NM_000244.3(MEN1):c.92A>G (p.Glu31Gly) rs1060499977
NM_000244.3(MEN1):c.92A>T (p.Glu31Val) rs1060499977
NM_000244.3(MEN1):c.947C>T (p.Thr316Ile) rs1565644342
NM_000244.3(MEN1):c.94C>T (p.Pro32Ser) rs773089218
NM_000244.3(MEN1):c.950A>T (p.Tyr317Phe)
NM_000244.3(MEN1):c.956G>A (p.Arg319Gln) rs771645621
NM_000244.3(MEN1):c.967A>G (p.Ile323Val) rs1565644220
NM_000244.3(MEN1):c.970T>G (p.Tyr324Asp) rs1555165101
NM_000244.3(MEN1):c.979A>G (p.Met327Val) rs1555165089
NM_000244.3(MEN1):c.979A>T (p.Met327Leu) rs1555165089
NM_000244.3(MEN1):c.981G>A (p.Met327Ile)
NM_000244.3(MEN1):c.987G>A (p.Leu329=)
NM_000244.3(MEN1):c.989C>A (p.Ala330Asp) rs370840265
NM_000244.3(MEN1):c.995A>G (p.Tyr332Cys)
NM_000244.3(MEN1):c.997C>A (p.His333Asn)
NM_000244.3(MEN1):c.997C>G (p.His333Asp) rs794727882
NM_000319.4(PEX5):c.1612C>T (p.Arg538Cys)
NM_000319.4(PEX5):c.164G>T (p.Gly55Val)
NM_000383.4(AIRE):c.1063C>A (p.Pro355Thr) rs1405678537
NM_000383.4(AIRE):c.1065_1079del (p.Arg356_Pro360del) rs1555872876
NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln)
NM_000383.4(AIRE):c.1084G>T (p.Val362Leu) rs763954225
NM_000383.4(AIRE):c.10G>A (p.Asp4Asn)
NM_000383.4(AIRE):c.1168A>G (p.Thr390Ala)
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met)
NM_000383.4(AIRE):c.1243C>T (p.His415Tyr)
NM_000383.4(AIRE):c.1244A>G (p.His415Arg)
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg) rs373993732
NM_000383.4(AIRE):c.1327G>A (p.Val443Met)
NM_000383.4(AIRE):c.1334G>A (p.Arg445Gln)
NM_000383.4(AIRE):c.1373A>G (p.His458Arg)
NM_000383.4(AIRE):c.137C>T (p.Thr46Met) rs758870962
NM_000383.4(AIRE):c.1399G>A (p.Gly467Arg)
NM_000383.4(AIRE):c.1403C>T (p.Thr468Met)
NM_000383.4(AIRE):c.143_145del (p.His48del)
NM_000383.4(AIRE):c.1454A>T (p.Glu485Val)
NM_000383.4(AIRE):c.1477G>A (p.Ala493Thr) rs561652010
NM_000383.4(AIRE):c.1480C>T (p.Arg494Cys) rs1465595959
NM_000383.4(AIRE):c.1505A>T (p.Asp502Val)
NM_000383.4(AIRE):c.1563C>T (p.Ser521=)
NM_000383.4(AIRE):c.1567-1G>A
NM_000383.4(AIRE):c.166C>T (p.Pro56Ser)
NM_000383.4(AIRE):c.226G>A (p.Asp76Asn) rs146810389
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) rs142788946
NM_000383.4(AIRE):c.347C>T (p.Pro116Leu)
NM_000383.4(AIRE):c.352G>A (p.Val118Ile)
NM_000383.4(AIRE):c.353T>A (p.Val118Asp)
NM_000383.4(AIRE):c.478G>A (p.Ala160Thr) rs1568926733
NM_000383.4(AIRE):c.485C>T (p.Pro162Leu)
NM_000383.4(AIRE):c.520C>T (p.Arg174Cys)
NM_000383.4(AIRE):c.538+3G>A
NM_000383.4(AIRE):c.538G>A (p.Gly180Arg)
NM_000383.4(AIRE):c.560C>T (p.Ser187Leu)
NM_000383.4(AIRE):c.581T>C (p.Met194Thr) rs1351412367
NM_000383.4(AIRE):c.590G>C (p.Gly197Ala) rs1185406745
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu)
NM_000383.4(AIRE):c.600G>A (p.Pro200=) rs754331960
NM_000383.4(AIRE):c.653-9T>A
NM_000383.4(AIRE):c.655G>A (p.Gly219Ser) rs139620961
NM_000383.4(AIRE):c.659C>T (p.Ser220Phe)
NM_000383.4(AIRE):c.766G>A (p.Val256Ile)
NM_000383.4(AIRE):c.794C>T (p.Ala265Val)
NM_000383.4(AIRE):c.798+5G>A rs1490186498
NM_000383.4(AIRE):c.816G>T (p.Arg272Ser) rs1568927979
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878
NM_000383.4(AIRE):c.860G>A (p.Ser287Asn)
NM_000383.4(AIRE):c.925A>G (p.Ile309Val) rs936714310
NM_000383.4(AIRE):c.947G>A (p.Arg316Gln)
NM_000383.4(AIRE):c.983G>A (p.Arg328Gln)
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000546.5(TP53):c.-202_-29+?dup174
NM_000546.5(TP53):c.1000G>C (p.Gly334Arg) rs730882028
NM_000546.5(TP53):c.1003C>T (p.Arg335Cys) rs375444154
NM_000546.5(TP53):c.1004G>A (p.Arg335His) rs771939956
NM_000546.5(TP53):c.1009C>G (p.Arg337Gly) rs587782529
NM_000546.5(TP53):c.100C>A (p.Pro34Thr) rs786201968
NM_000546.5(TP53):c.100C>G (p.Pro34Ala) rs786201968
NM_000546.5(TP53):c.1015G>A (p.Glu339Lys) rs17882252
NM_000546.5(TP53):c.1015G>C (p.Glu339Gln) rs17882252
NM_000546.5(TP53):c.1025G>A (p.Arg342Gln) rs375338359
NM_000546.5(TP53):c.1036G>A (p.Glu346Lys)
NM_000546.5(TP53):c.1039G>A (p.Ala347Thr)
NM_000546.5(TP53):c.103T>A (p.Leu35Met) rs1060501211
NM_000546.5(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.5(TP53):c.1042T>G (p.Leu348Val) rs1060501193
NM_000546.5(TP53):c.1045G>C (p.Glu349Gln)
NM_000546.5(TP53):c.1052A>G (p.Lys351Arg) rs1555524396
NM_000546.5(TP53):c.105G>C (p.Leu35Phe) rs121912661
NM_000546.5(TP53):c.1060C>A (p.Gln354Lys) rs755394212
NM_000546.5(TP53):c.1064C>T (p.Ala355Val) rs1555524382
NM_000546.5(TP53):c.1066G>C (p.Gly356Arg) rs766786605
NM_000546.5(TP53):c.1073A>T (p.Glu358Val) rs773553186
NM_000546.5(TP53):c.1079G>A (p.Gly360Glu) rs35993958
NM_000546.5(TP53):c.1079G>T (p.Gly360Val) rs35993958
NM_000546.5(TP53):c.107C>A (p.Pro36Gln) rs587781866
NM_000546.5(TP53):c.1081G>C (p.Gly361Arg) rs1555524361
NM_000546.5(TP53):c.1084A>T (p.Ser362Cys) rs1287887419
NM_000546.5(TP53):c.1085G>A (p.Ser362Asn) rs768803947
NM_000546.5(TP53):c.1087A>G (p.Arg363Gly) rs745751553
NM_000546.5(TP53):c.1091C>T (p.Ala364Val) rs1567541711
NM_000546.5(TP53):c.1093C>T (p.His365Tyr) rs267605075
NM_000546.5(TP53):c.1096T>C (p.Ser366Pro) rs17881470
NM_000546.5(TP53):c.1100+5G>A
NM_000546.5(TP53):c.1101-1G>A rs876658982
NM_000546.5(TP53):c.1102C>T (p.His368Tyr) rs786204227
NM_000546.5(TP53):c.1104C>A (p.His368Gln)
NM_000546.5(TP53):c.1104C>G (p.His368Gln) rs1289241865
NM_000546.5(TP53):c.110C>T (p.Ser37Phe) rs1567557177
NM_000546.5(TP53):c.1118A>G (p.Lys373Arg) rs1567540504
NM_000546.5(TP53):c.1120G>C (p.Gly374Arg) rs587781858
NM_000546.5(TP53):c.1120G>T (p.Gly374Cys)
NM_000546.5(TP53):c.1121del (p.Gly374fs) rs878854063
NM_000546.5(TP53):c.1123C>T (p.Gln375Ter) rs1555524156
NM_000546.5(TP53):c.1129A>G (p.Thr377Ala)
NM_000546.5(TP53):c.1135C>A (p.Arg379Ser) rs749061599
NM_000546.5(TP53):c.1135C>T (p.Arg379Cys) rs749061599
NM_000546.5(TP53):c.1136G>A (p.Arg379His) rs863224682
NM_000546.5(TP53):c.1136G>T (p.Arg379Leu) rs863224682
NM_000546.5(TP53):c.1140del (p.His380fs) rs1555524108
NM_000546.5(TP53):c.1146A>G (p.Lys382=) rs1567540280
NM_000546.5(TP53):c.1150A>G (p.Met384Val) rs730882009
NM_000546.5(TP53):c.1151T>C (p.Met384Thr) rs1060501196
NM_000546.5(TP53):c.1151T>G (p.Met384Arg) rs1060501196
NM_000546.5(TP53):c.1152G>A (p.Met384Ile)
NM_000546.5(TP53):c.1160del (p.Thr387fs)
NM_000546.5(TP53):c.1163A>C (p.Glu388Ala) rs587781736
NM_000546.5(TP53):c.1165G>A (p.Gly389Arg) rs587783064
NM_000546.5(TP53):c.116C>T (p.Ala39Val) rs1353016807
NM_000546.5(TP53):c.1177del (p.Asp393fs) rs1555524083
NM_000546.5(TP53):c.1180T>A (p.Ter394Arg)
NM_000546.5(TP53):c.1182A>T (p.Ter394Cys) rs1555524074
NM_000546.5(TP53):c.118A>G (p.Met40Val)
NM_000546.5(TP53):c.11C>G (p.Pro4Arg) rs878854064
NM_000546.5(TP53):c.11C>T (p.Pro4Leu) rs878854064
NM_000546.5(TP53):c.121G>A (p.Asp41Asn) rs1555526789
NM_000546.5(TP53):c.123T>C (p.Asp41=) rs369129220
NM_000546.5(TP53):c.127T>A (p.Leu43Met)
NM_000546.5(TP53):c.132G>A (p.Met44Ile) rs1060501190
NM_000546.5(TP53):c.133C>G (p.Leu45Val)
NM_000546.5(TP53):c.137C>A (p.Ser46Tyr)
NM_000546.5(TP53):c.139C>A (p.Pro47Thr) rs1800371
NM_000546.5(TP53):c.144C>A (p.Asp48Glu) rs587781460
NM_000546.5(TP53):c.145G>A (p.Asp49Asn) rs587780728
NM_000546.5(TP53):c.145G>C (p.Asp49His) rs587780728
NM_000546.5(TP53):c.146A>G (p.Asp49Gly) rs759728549
NM_000546.5(TP53):c.149T>A (p.Ile50Asn) rs370502517
NM_000546.5(TP53):c.149T>C (p.Ile50Thr) rs370502517
NM_000546.5(TP53):c.14A>G (p.Gln5Arg) rs781595324
NM_000546.5(TP53):c.152A>G (p.Glu51Gly) rs1567556923
NM_000546.5(TP53):c.155A>G (p.Gln52Arg) rs774656101
NM_000546.5(TP53):c.188C>G (p.Ala63Gly) rs372201428
NM_000546.5(TP53):c.188C>T (p.Ala63Val) rs372201428
NM_000546.5(TP53):c.194G>C (p.Arg65Thr) rs1060501210
NM_000546.5(TP53):c.200C>A (p.Pro67Gln) rs1555526709
NM_000546.5(TP53):c.205G>A (p.Ala69Thr) rs1567556618
NM_000546.5(TP53):c.206C>T (p.Ala69Val) rs756233241
NM_000546.5(TP53):c.211C>G (p.Pro71Ala) rs1567556576
NM_000546.5(TP53):c.211C>T (p.Pro71Ser) rs1567556576
NM_000546.5(TP53):c.212C>G (p.Pro71Arg) rs878854065
NM_000546.5(TP53):c.214C>G (p.Pro72Ala) rs587782769
NM_000546.5(TP53):c.214_215delinsTG (p.Pro72Cys) rs730882014
NM_000546.5(TP53):c.215C>A (p.Pro72His) rs1042522
NM_000546.5(TP53):c.217G>A (p.Val73Met) rs587782423
NM_000546.5(TP53):c.219G>A (p.Val73=) rs1567556473
NM_000546.5(TP53):c.21T>A (p.Asp7Glu) rs587781277
NM_000546.5(TP53):c.221C>T (p.Ala74Val) rs587781832
NM_000546.5(TP53):c.229C>A (p.Pro77Thr) rs753085009
NM_000546.5(TP53):c.229C>T (p.Pro77Ser) rs753085009
NM_000546.5(TP53):c.22C>A (p.Pro8Thr)
NM_000546.5(TP53):c.233C>G (p.Ala78Gly) rs876658527
NM_000546.5(TP53):c.234A>G (p.Ala78=) rs375099397
NM_000546.5(TP53):c.234_263del (p.Ala79_Ala88del) rs754312472
NM_000546.5(TP53):c.236C>G (p.Ala79Gly)
NM_000546.5(TP53):c.238C>T (p.Pro80Ser) rs1060501204
NM_000546.5(TP53):c.242C>T (p.Thr81Ile) rs1567556386
NM_000546.5(TP53):c.245C>G (p.Pro82Arg) rs534447939
NM_000546.5(TP53):c.245C>T (p.Pro82Leu) rs534447939
NM_000546.5(TP53):c.249G>A (p.Ala83=) rs55754907
NM_000546.5(TP53):c.250G>A (p.Ala84Thr) rs587781307
NM_000546.5(TP53):c.256G>A (p.Ala86Thr) rs587782148
NM_000546.5(TP53):c.257C>T (p.Ala86Val)
NM_000546.5(TP53):c.25A>C (p.Ser9Arg) rs1555527017
NM_000546.5(TP53):c.266C>T (p.Pro89Leu) rs730881994
NM_000546.5(TP53):c.269C>T (p.Ser90Phe) rs1555526625
NM_000546.5(TP53):c.26G>A (p.Ser9Asn) rs1555527015
NM_000546.5(TP53):c.275C>T (p.Pro92Leu) rs1210700121
NM_000546.5(TP53):c.283_285TCT[1] (p.Ser96del) rs878854068
NM_000546.5(TP53):c.289G>T (p.Val97Phe) rs730882023
NM_000546.5(TP53):c.28G>A (p.Val10Ile) rs535274413
NM_000546.5(TP53):c.28G>C (p.Val10Leu) rs535274413
NM_000546.5(TP53):c.293C>T (p.Pro98Leu) rs1245723119
NM_000546.5(TP53):c.296C>G (p.Ser99Cys) rs1567556019
NM_000546.5(TP53):c.296C>T (p.Ser99Phe) rs1567556019
NM_000546.5(TP53):c.301A>C (p.Lys101Gln)
NM_000546.5(TP53):c.303A>T (p.Lys101Asn) rs878854069
NM_000546.5(TP53):c.304A>T (p.Thr102Ser) rs1567555968
NM_000546.5(TP53):c.305C>T (p.Thr102Ile) rs786202717
NM_000546.5(TP53):c.307T>C (p.Tyr103His) rs1555526589
NM_000546.5(TP53):c.313G>C (p.Gly105Arg) rs1060501195
NM_000546.5(TP53):c.314G>A (p.Gly105Asp) rs587781504
NM_000546.5(TP53):c.319T>A (p.Tyr107Asn) rs368771578
NM_000546.5(TP53):c.319T>G (p.Tyr107Asp)
NM_000546.5(TP53):c.31G>A (p.Glu11Lys) rs201382018
NM_000546.5(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.5(TP53):c.322G>A (p.Gly108Ser) rs587782461
NM_000546.5(TP53):c.322G>C (p.Gly108Arg) rs587782461
NM_000546.5(TP53):c.324_326del (p.Phe109del) rs1567555808
NM_000546.5(TP53):c.328C>A (p.Arg110Ser) rs587781371
NM_000546.5(TP53):c.328C>T (p.Arg110Cys) rs587781371
NM_000546.5(TP53):c.329G>A (p.Arg110His) rs11540654
NM_000546.5(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_000546.5(TP53):c.337T>G (p.Phe113Val) rs587781642
NM_000546.5(TP53):c.341T>C (p.Leu114Ser) rs781724995
NM_000546.5(TP53):c.343C>A (p.His115Asn) rs1555526532
NM_000546.5(TP53):c.344A>G (p.His115Arg) rs730881996
NM_000546.5(TP53):c.346T>G (p.Ser116Ala)
NM_000546.5(TP53):c.353C>T (p.Thr118Ile) rs1064794141
NM_000546.5(TP53):c.358A>G (p.Lys120Glu) rs121912658
NM_000546.5(TP53):c.35C>A (p.Pro12His) rs1482497533
NM_000546.5(TP53):c.35C>G (p.Pro12Arg)
NM_000546.5(TP53):c.35C>T (p.Pro12Leu) rs1482497533
NM_000546.5(TP53):c.364G>A (p.Val122Met) rs587781495
NM_000546.5(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.5(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.5(TP53):c.375+1_375+5dup rs1555526468
NM_000546.5(TP53):c.375+4A>G rs1060501192
NM_000546.5(TP53):c.375+4_375+5dup rs1555526467
NM_000546.5(TP53):c.375+5G>C rs1555526466
NM_000546.5(TP53):c.375+6T>C rs730881998
NM_000546.5(TP53):c.376-2dupA rs751253294
NM_000546.5(TP53):c.376T>A (p.Tyr126Asn) rs886039483
NM_000546.5(TP53):c.376T>G (p.Tyr126Asp) rs886039483
NM_000546.5(TP53):c.377A>G (p.Tyr126Cys) rs1555526335
NM_000546.5(TP53):c.37C>T (p.Pro13Ser) rs1060501208
NM_000546.5(TP53):c.380C>A (p.Ser127Tyr)
NM_000546.5(TP53):c.380C>G (p.Ser127Cys) rs730881999
NM_000546.5(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.5(TP53):c.382C>A (p.Pro128Thr) rs1555526327
NM_000546.5(TP53):c.386C>G (p.Ala129Gly) rs137852792
NM_000546.5(TP53):c.388C>G (p.Leu130Val) rs863224683
NM_000546.5(TP53):c.388C>T (p.Leu130Phe) rs863224683
NM_000546.5(TP53):c.38C>T (p.Pro13Leu) rs878854070
NM_000546.5(TP53):c.392A>T (p.Asn131Ile) rs1131691037
NM_000546.5(TP53):c.393C>A (p.Asn131Lys) rs769270327
NM_000546.5(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.5(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_000546.5(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.5(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.5(TP53):c.396G>T (p.Lys132Asn) rs866775781
NM_000546.5(TP53):c.397A>G (p.Met133Val) rs1057280220
NM_000546.5(TP53):c.400T>C (p.Phe134Leu)
NM_000546.5(TP53):c.403T>A (p.Cys135Ser) rs1057519975
NM_000546.5(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.5(TP53):c.407A>C (p.Gln136Pro) rs1567554216
NM_000546.5(TP53):c.408A>C (p.Gln136His) rs758781593
NM_000546.5(TP53):c.40C>G (p.Leu14Val) rs1567558112
NM_000546.5(TP53):c.413C>A (p.Ala138Asp) rs750600586
NM_000546.5(TP53):c.413C>T (p.Ala138Val) rs750600586
NM_000546.5(TP53):c.415A>G (p.Lys139Glu)
NM_000546.5(TP53):c.418A>G (p.Thr140Ala)
NM_000546.5(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.5(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.5(TP53):c.439G>A (p.Val147Ile) rs1555526226
NM_000546.5(TP53):c.442G>A (p.Asp148Asn)
NM_000546.5(TP53):c.442G>T (p.Asp148Tyr) rs1131691007
NM_000546.5(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.5(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.5(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.5(TP53):c.457C>T (p.Pro153Ser) rs1064795860
NM_000546.5(TP53):c.458C>T (p.Pro153Leu)
NM_000546.5(TP53):c.460G>A (p.Gly154Ser) rs137852789
NM_000546.5(TP53):c.460G>C (p.Gly154Arg) rs137852789
NM_000546.5(TP53):c.461G>A (p.Gly154Asp) rs762846821
NM_000546.5(TP53):c.461G>T (p.Gly154Val)
NM_000546.5(TP53):c.463A>G (p.Thr155Ala) rs772683278
NM_000546.5(TP53):c.463_468del (p.Thr155_Arg156del) rs1555526166
NM_000546.5(TP53):c.464C>A (p.Thr155Asn) rs786202752
NM_000546.5(TP53):c.464C>G (p.Thr155Ser) rs786202752
NM_000546.5(TP53):c.466C>T (p.Arg156Cys) rs563378859
NM_000546.5(TP53):c.467G>A (p.Arg156His) rs371524413
NM_000546.5(TP53):c.469G>A (p.Val157Ile) rs121912654
NM_000546.5(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.5(TP53):c.470T>A (p.Val157Asp) rs1131691023
NM_000546.5(TP53):c.470_475dup (p.Val157_Arg158dup) rs1555526140
NM_000546.5(TP53):c.472C>T (p.Arg158Cys) rs587780068
NM_000546.5(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_000546.5(TP53):c.476C>T (p.Ala159Val) rs1555526131
NM_000546.5(TP53):c.480G>A (p.Met160Ile) rs772354334
NM_000546.5(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.5(TP53):c.482C>A (p.Ala161Asp) rs1064795691
NM_000546.5(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_000546.5(TP53):c.48G>C (p.Gln16His)
NM_000546.5(TP53):c.490A>G (p.Lys164Glu) rs879254249
NM_000546.5(TP53):c.495_497del (p.Ser166del)
NM_000546.5(TP53):c.497C>T (p.Ser166Leu) rs1555526101
NM_000546.5(TP53):c.4G>A (p.Glu2Lys) rs769884991
NM_000546.5(TP53):c.500A>G (p.Gln167Arg)
NM_000546.5(TP53):c.503A>G (p.His168Arg) rs867114783
NM_000546.5(TP53):c.506T>G (p.Met169Arg) rs1567553114
NM_000546.5(TP53):c.508A>G (p.Thr170Ala) rs587780729
NM_000546.5(TP53):c.509C>T (p.Thr170Met) rs779000871
NM_000546.5(TP53):c.511G>A (p.Glu171Lys) rs587781845
NM_000546.5(TP53):c.515T>C (p.Val172Ala) rs1131691021
NM_000546.5(TP53):c.516T>G (p.Val172=) rs749309577
NM_000546.5(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.5(TP53):c.519G>A (p.Val173=) rs1292303980
NM_000546.5(TP53):c.520A>G (p.Arg174Gly) rs864622115
NM_000546.5(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_000546.5(TP53):c.524G>T (p.Arg175Leu) rs28934578
NM_000546.5(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.5(TP53):c.529C>A (p.Pro177Thr) rs147002414
NM_000546.5(TP53):c.529C>T (p.Pro177Ser)
NM_000546.5(TP53):c.530C>G (p.Pro177Arg) rs751477326
NM_000546.5(TP53):c.530C>T (p.Pro177Leu) rs751477326
NM_000546.5(TP53):c.534C>A (p.His178Gln) rs1555526001
NM_000546.5(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.5(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_000546.5(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.5(TP53):c.541C>A (p.Arg181Ser) rs587782596
NM_000546.5(TP53):c.542G>T (p.Arg181Leu) rs397514495
NM_000546.5(TP53):c.551A>G (p.Asp184Gly) rs1060501209
NM_000546.5(TP53):c.554G>A (p.Ser185Asn) rs150607408
NM_000546.5(TP53):c.556G>A (p.Asp186Asn) rs1060501206
NM_000546.5(TP53):c.558T>A (p.Asp186Glu) rs375275361
NM_000546.5(TP53):c.559+4A>G rs1357840734
NM_000546.5(TP53):c.559+5G>A rs1555525956
NM_000546.5(TP53):c.559+5G>C
NM_000546.5(TP53):c.559+6C>A
NM_000546.5(TP53):c.559+9C>G rs1224204682
NM_000546.5(TP53):c.560-9T>G rs794727781
NM_000546.5(TP53):c.565G>T (p.Ala189Ser) rs1555525921
NM_000546.5(TP53):c.566C>T (p.Ala189Val) rs121912665
NM_000546.5(TP53):c.568C>T (p.Pro190Ser)
NM_000546.5(TP53):c.569C>T (p.Pro190Leu) rs876660825
NM_000546.5(TP53):c.569_571CTC[1] (p.Pro191del) rs1555525902
NM_000546.5(TP53):c.572C>G (p.Pro191Arg) rs587778718
NM_000546.5(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.5(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_000546.5(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.5(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.5(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.5(TP53):c.586C>G (p.Arg196Gly) rs397516435
NM_000546.5(TP53):c.587G>A (p.Arg196Gln) rs483352697
NM_000546.5(TP53):c.589G>A (p.Val197Met) rs786204041
NM_000546.5(TP53):c.589G>T (p.Val197Leu) rs786204041
NM_000546.5(TP53):c.590T>A (p.Val197Glu) rs1567551903
NM_000546.5(TP53):c.591G>A (p.Val197=) rs1567551885
NM_000546.5(TP53):c.596G>A (p.Gly199Glu) rs1555525857
NM_000546.5(TP53):c.604C>T (p.Arg202Cys) rs587780072
NM_000546.5(TP53):c.605G>A (p.Arg202His) rs587778719
NM_000546.5(TP53):c.607G>A (p.Val203Met) rs730882003
NM_000546.5(TP53):c.607G>C (p.Val203Leu) rs730882003
NM_000546.5(TP53):c.607G>T (p.Val203Leu) rs730882003
NM_000546.5(TP53):c.608T>A (p.Val203Glu)
NM_000546.5(TP53):c.608_610del (p.Val203del) rs1567551730
NM_000546.5(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.5(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.5(TP53):c.628A>T (p.Asn210Tyr) rs1060501200
NM_000546.5(TP53):c.631A>C (p.Thr211Pro) rs1060501198
NM_000546.5(TP53):c.631A>G (p.Thr211Ala) rs1060501198
NM_000546.5(TP53):c.634T>A (p.Phe212Ile) rs1064795766
NM_000546.5(TP53):c.640C>A (p.His214Asn) rs876658466
NM_000546.5(TP53):c.641A>C (p.His214Pro)
NM_000546.5(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.5(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.5(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.5(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.5(TP53):c.646G>C (p.Val216Leu) rs730882025
NM_000546.5(TP53):c.649G>A (p.Val217Met) rs35163653
NM_000546.5(TP53):c.653T>G (p.Val218Gly) rs1555525743
NM_000546.5(TP53):c.661G>A (p.Glu221Lys) rs786201592
NM_000546.5(TP53):c.662A>C (p.Glu221Ala) rs1567551121
NM_000546.5(TP53):c.664C>T (p.Pro222Ser) rs1060501203
NM_000546.5(TP53):c.665C>T (p.Pro222Leu) rs146340390
NM_000546.5(TP53):c.668C>T (p.Pro223Leu) rs138983188
NM_000546.5(TP53):c.672+4T>C
NM_000546.5(TP53):c.673-4C>G rs1555525586
NM_000546.5(TP53):c.673-5C>G rs876658684
NM_000546.5(TP53):c.673-9del rs762540407
NM_000546.5(TP53):c.676G>A (p.Gly226Ser)
NM_000546.5(TP53):c.677G>T (p.Gly226Val) rs970212462
NM_000546.5(TP53):c.685T>C (p.Cys229Arg) rs1064794312
NM_000546.5(TP53):c.686G>C (p.Cys229Ser)
NM_000546.5(TP53):c.692C>T (p.Thr231Ile) rs1555525564
NM_000546.5(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_000546.5(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.5(TP53):c.703A>T (p.Asn235Tyr) rs786204145
NM_000546.5(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_000546.5(TP53):c.706T>C (p.Tyr236His) rs587782289
NM_000546.5(TP53):c.709A>G (p.Met237Val) rs730882004
NM_000546.5(TP53):c.710T>C (p.Met237Thr) rs765848205
NM_000546.5(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_000546.5(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.5(TP53):c.716A>C (p.Asn239Thr) rs1057519999
NM_000546.5(TP53):c.716_721del (p.Asn239_Ser241delinsThr)
NM_000546.5(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.5(TP53):c.720T>G (p.Ser240Arg) rs764342812
NM_000546.5(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_000546.5(TP53):c.724_726dup (p.Cys242dup)
NM_000546.5(TP53):c.725G>C (p.Cys242Ser)
NM_000546.5(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_000546.5(TP53):c.727A>G (p.Met243Val) rs786203117
NM_000546.5(TP53):c.728T>C (p.Met243Thr) rs730882006
NM_000546.5(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_000546.5(TP53):c.730_738del (p.Gly244_Met246del)
NM_000546.5(TP53):c.731G>C (p.Gly244Ala) rs985033810
NM_000546.5(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_000546.5(TP53):c.736A>T (p.Met246Leu) rs483352695
NM_000546.5(TP53):c.737T>C (p.Met246Thr) rs587780074
NM_000546.5(TP53):c.738G>A (p.Met246Ile) rs1019340046
NM_000546.5(TP53):c.740A>G (p.Asn247Ser) rs786201762
NM_000546.5(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.5(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.5(TP53):c.747G>C (p.Arg249Ser) rs28934571
NM_000546.5(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.5(TP53):c.749C>T (p.Pro250Leu) rs1064794311
NM_000546.5(TP53):c.752T>A (p.Ile251Asn) rs730882027
NM_000546.5(TP53):c.753C>G (p.Ile251Met) rs878854074
NM_000546.5(TP53):c.760A>G (p.Ile254Val) rs746601313
NM_000546.5(TP53):c.761T>G (p.Ile254Ser)
NM_000546.5(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_000546.5(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_000546.5(TP53):c.766A>C (p.Thr256Pro) rs587781433
NM_000546.5(TP53):c.766A>G (p.Thr256Ala) rs587781433
NM_000546.5(TP53):c.770T>A (p.Leu257Gln) rs28934577
NM_000546.5(TP53):c.770T>C (p.Leu257Pro) rs28934577
NM_000546.5(TP53):c.773A>C (p.Glu258Ala) rs1060501201
NM_000546.5(TP53):c.773A>G (p.Glu258Gly) rs1060501201
NM_000546.5(TP53):c.776A>G (p.Asp259Gly) rs745425759
NM_000546.5(TP53):c.779C>A (p.Ser260Tyr) rs876658916
NM_000546.5(TP53):c.782+3C>A rs1555525425
NM_000546.5(TP53):c.782+3C>T rs1555525425
NM_000546.5(TP53):c.782+6G>A rs1008479744
NM_000546.5(TP53):c.783-7T>G
NM_000546.5(TP53):c.783-8C>G rs1567548432
NM_000546.5(TP53):c.783T>C (p.Ser261=) rs863224684
NM_000546.5(TP53):c.784G>A (p.Gly262Ser) rs200579969
NM_000546.5(TP53):c.784_786delGGT rs1567548347
NM_000546.5(TP53):c.785G>T (p.Gly262Val) rs1131691025
NM_000546.5(TP53):c.787A>C (p.Asn263His) rs72661119
NM_000546.5(TP53):c.787A>G (p.Asn263Asp) rs72661119
NM_000546.5(TP53):c.790C>A (p.Leu264Ile)
NM_000546.5(TP53):c.791T>C (p.Leu264Pro) rs1555525353
NM_000546.5(TP53):c.796G>A (p.Gly266Arg) rs1057519990
NM_000546.5(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_000546.5(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.5(TP53):c.79C>A (p.Pro27Thr) rs922736614
NM_000546.5(TP53):c.79C>T (p.Pro27Ser) rs922736614
NM_000546.5(TP53):c.800G>A (p.Arg267Gln) rs587780075
NM_000546.5(TP53):c.800G>C (p.Arg267Pro) rs587780075
NM_000546.5(TP53):c.805A>C (p.Ser269Arg)
NM_000546.5(TP53):c.80C>G (p.Pro27Arg)
NM_000546.5(TP53):c.811G>A (p.Glu271Lys) rs1060501191
NM_000546.5(TP53):c.811_812delinsTT (p.Glu271Leu) rs1567548090
NM_000546.5(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.5(TP53):c.814G>C (p.Val272Leu)
NM_000546.5(TP53):c.815T>C (p.Val272Ala)
NM_000546.5(TP53):c.820G>C (p.Val274Leu) rs1057520005
NM_000546.5(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_000546.5(TP53):c.826G>C (p.Ala276Pro) rs1131691029
NM_000546.5(TP53):c.829T>C (p.Cys277Arg) rs1064795369
NM_000546.5(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.5(TP53):c.830G>C (p.Cys277Ser)
NM_000546.5(TP53):c.830G>T (p.Cys277Phe) rs763098116
NM_000546.5(TP53):c.831_848dup (p.Pro278_Arg283dup) rs786204061
NM_000546.5(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.5(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.5(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.5(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.5(TP53):c.835G>A (p.Gly279Arg) rs1555525248
NM_000546.5(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.5(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.5(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.5(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_000546.5(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_000546.5(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.5(TP53):c.845G>T (p.Arg282Leu) rs730882008
NM_000546.5(TP53):c.847C>G (p.Arg283Gly)
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000546.5(TP53):c.848G>A (p.Arg283His) rs371409680
NM_000546.5(TP53):c.850A>T (p.Thr284Ser) rs1204379654
NM_000546.5(TP53):c.851C>T (p.Thr284Ile) rs863224685
NM_000546.5(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_000546.5(TP53):c.859G>A (p.Glu287Lys) rs587782006
NM_000546.5(TP53):c.85_87AAC[1] (p.Asn30del) rs587782270
NM_000546.5(TP53):c.868C>T (p.Arg290Cys) rs770374782
NM_000546.5(TP53):c.869G>A (p.Arg290His) rs55819519
NM_000546.5(TP53):c.869G>C (p.Arg290Pro) rs55819519
NM_000546.5(TP53):c.870_871delinsAC (p.Lys291Gln) rs1060501205
NM_000546.5(TP53):c.871A>G (p.Lys291Glu) rs1555525126
NM_000546.5(TP53):c.873G>C (p.Lys291Asn) rs372613518
NM_000546.5(TP53):c.875A>G (p.Lys292Arg) rs121912663
NM_000546.5(TP53):c.877G>T (p.Gly293Trp) rs587780076
NM_000546.5(TP53):c.87C>G (p.Asn29Lys)
NM_000546.5(TP53):c.884C>T (p.Pro295Leu) rs751713111
NM_000546.5(TP53):c.886C>T (p.His296Tyr) rs672601296
NM_000546.5(TP53):c.891C>A (p.His297Gln)
NM_000546.5(TP53):c.892G>A (p.Glu298Lys) rs201744589
NM_000546.5(TP53):c.8A>G (p.Glu3Gly) rs786203938
NM_000546.5(TP53):c.904G>C (p.Gly302Arg) rs863224686
NM_000546.5(TP53):c.905G>A (p.Gly302Glu) rs1060501202
NM_000546.5(TP53):c.907A>G (p.Ser303Gly) rs587782391
NM_000546.5(TP53):c.908G>A (p.Ser303Asn) rs876658714
NM_000546.5(TP53):c.917G>A (p.Arg306Gln) rs1048095040
NM_000546.5(TP53):c.919+5G>C rs766127339
NM_000546.5(TP53):c.920C>T (p.Ala307Val)
NM_000546.5(TP53):c.925C>T (p.Pro309Ser) rs1555525012
NM_000546.5(TP53):c.928A>G (p.Asn310Asp)
NM_000546.5(TP53):c.930C>A (p.Asn310Lys) rs876660829
NM_000546.5(TP53):c.931A>C (p.Asn311His) rs1555525007
NM_000546.5(TP53):c.932A>C (p.Asn311Thr) rs56184981
NM_000546.5(TP53):c.932A>G (p.Asn311Ser) rs56184981
NM_000546.5(TP53):c.935C>G (p.Thr312Ser) rs145151284
NM_000546.5(TP53):c.941C>T (p.Ser314Phe) rs751440465
NM_000546.5(TP53):c.943T>A (p.Ser315Thr) rs762620193
NM_000546.5(TP53):c.946C>A (p.Pro316Thr) rs772773208
NM_000546.5(TP53):c.947C>T (p.Pro316Leu) rs1555524979
NM_000546.5(TP53):c.949C>A (p.Gln317Lys) rs764735889
NM_000546.5(TP53):c.950A>G (p.Gln317Arg) rs1159579789
NM_000546.5(TP53):c.951G>T (p.Gln317His) rs1060501199
NM_000546.5(TP53):c.957_959GAA[1] (p.Lys321del) rs1567546114
NM_000546.5(TP53):c.96+5G>A rs1567557622
NM_000546.5(TP53):c.964C>T (p.Pro322Ser) rs863224687
NM_000546.5(TP53):c.96G>A (p.Leu32=)
NM_000546.5(TP53):c.97-3C>T rs786203749
NM_000546.5(TP53):c.970G>C (p.Asp324His) rs1064794810
NM_000546.5(TP53):c.974G>T (p.Gly325Val) rs121912659
NM_000546.5(TP53):c.983T>C (p.Phe328Ser)
NM_000546.5(TP53):c.986C>T (p.Thr329Ile)
NM_000546.5(TP53):c.989T>C (p.Leu330Pro)
NM_000546.5(TP53):c.98C>A (p.Ser33Tyr) rs1555526832
NM_000546.5(TP53):c.98C>T (p.Ser33Phe)
NM_000546.5(TP53):c.993+5T>G
NM_000546.5(TP53):c.993+7A>G rs1023206153
NM_000546.5(TP53):c.996C>G (p.Ile332Met) rs1555524470
NM_000546.5(TP53):c.997C>T (p.Arg333Cys) rs769934890
NM_000546.5(TP53):c.998G>A (p.Arg333His) rs573154688
NM_000551.3(VHL):c.103_117dup (p.Ala35_Gly39dup) rs1553619337
NM_000551.3(VHL):c.104C>A (p.Ala35Asp) rs587780536
NM_000551.3(VHL):c.104C>T (p.Ala35Val) rs587780536
NM_000551.3(VHL):c.112_156dup (p.Ser38_Glu52dup)
NM_000551.3(VHL):c.113C>T (p.Ser38Phe)
NM_000551.3(VHL):c.115G>C (p.Gly39Arg) rs768650092
NM_000551.3(VHL):c.116G>A (p.Gly39Asp) rs368473853
NM_000551.3(VHL):c.117C>T (p.Gly39=) rs1057521552
NM_000551.3(VHL):c.123_137del (p.38_42SGPEE[1]) rs863224839
NM_000551.3(VHL):c.123_137dup (p.38_42SGPEE[3]) rs863224839
NM_000551.3(VHL):c.130G>A (p.Gly44Ser)
NM_000551.3(VHL):c.133C>G (p.Pro45Ala)
NM_000551.3(VHL):c.134C>T (p.Pro45Leu)
NM_000551.3(VHL):c.139G>A (p.Glu47Lys)
NM_000551.3(VHL):c.13G>C (p.Ala5Pro) rs1559425498
NM_000551.3(VHL):c.143T>G (p.Leu48Arg) rs199959170
NM_000551.3(VHL):c.14C>T (p.Ala5Val) rs755333116
NM_000551.3(VHL):c.151G>A (p.Glu51Lys)
NM_000551.3(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.3(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.3(VHL):c.164A>G (p.Glu55Gly) rs1328776664
NM_000551.3(VHL):c.167C>G (p.Ala56Gly) rs752980085
NM_000551.3(VHL):c.167C>T (p.Ala56Val) rs752980085
NM_000551.3(VHL):c.169G>C (p.Gly57Arg) rs1064795194
NM_000551.3(VHL):c.169G>T (p.Gly57Trp)
NM_000551.3(VHL):c.170G>C (p.Gly57Ala) rs764755691
NM_000551.3(VHL):c.172C>T (p.Arg58Trp) rs757781272
NM_000551.3(VHL):c.175C>T (p.Pro59Ser) rs876659041
NM_000551.3(VHL):c.178C>G (p.Arg60Gly) rs1035077469
NM_000551.3(VHL):c.181C>G (p.Pro61Ala) rs113612866
NM_000551.3(VHL):c.181C>T (p.Pro61Ser) rs113612866
NM_000551.3(VHL):c.182C>G (p.Pro61Arg)
NM_000551.3(VHL):c.182C>T (p.Pro61Leu) rs746582207
NM_000551.3(VHL):c.188T>C (p.Leu63Pro) rs104893827
NM_000551.3(VHL):c.18G>T (p.Glu6Asp) rs1004620245
NM_000551.3(VHL):c.191G>A (p.Arg64His) rs104893826
NM_000551.3(VHL):c.1A>T (p.Met1Leu) rs1060503557
NM_000551.3(VHL):c.205C>G (p.Arg69Gly) rs1428175816
NM_000551.3(VHL):c.207C>T (p.Arg69=) rs1060503550
NM_000551.3(VHL):c.209A>G (p.Glu70Gly) rs786202857
NM_000551.3(VHL):c.20A>C (p.Asn7Thr)
NM_000551.3(VHL):c.217C>G (p.Gln73Glu)
NM_000551.3(VHL):c.219G>C (p.Gln73His)
NM_000551.3(VHL):c.21C>A (p.Asn7Lys) rs1060503561
NM_000551.3(VHL):c.221T>C (p.Val74Ala) rs5030803
NM_000551.3(VHL):c.223A>C (p.Ile75Leu) rs1060503554
NM_000551.3(VHL):c.223A>G (p.Ile75Val)
NM_000551.3(VHL):c.225C>G (p.Ile75Met)
NM_000551.3(VHL):c.22T>C (p.Trp8Arg) rs1352171735
NM_000551.3(VHL):c.233A>C (p.Asn78Thr) rs5030804
NM_000551.3(VHL):c.235C>G (p.Arg79Gly) rs200885420
NM_000551.3(VHL):c.235C>T (p.Arg79Cys) rs200885420
NM_000551.3(VHL):c.23G>A (p.Trp8Ter) rs1060503551
NM_000551.3(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.3(VHL):c.251T>C (p.Val84Ala)
NM_000551.3(VHL):c.258C>G (p.Pro86=) rs781063331
NM_000551.3(VHL):c.25G>A (p.Asp9Asn) rs587780730
NM_000551.3(VHL):c.25G>C (p.Asp9His)
NM_000551.3(VHL):c.265C>T (p.Leu89Phe)
NM_000551.3(VHL):c.269A>C (p.Asn90Thr) rs143985153
NM_000551.3(VHL):c.269A>G (p.Asn90Ser) rs143985153
NM_000551.3(VHL):c.26A>C (p.Asp9Ala) rs1060503560
NM_000551.3(VHL):c.273C>A (p.Phe91Leu) rs1060503563
NM_000551.3(VHL):c.274G>T (p.Asp92Tyr) rs587780731
NM_000551.3(VHL):c.275A>T (p.Asp92Val) rs749091984
NM_000551.3(VHL):c.277_294del (p.Gly93_Tyr98del) rs1559426059
NM_000551.3(VHL):c.278_279delinsTT (p.Gly93Val) rs1559426072
NM_000551.3(VHL):c.27C>A (p.Asp9Glu) rs1017141110
NM_000551.3(VHL):c.280G>A (p.Glu94Lys) rs5030829
NM_000551.3(VHL):c.283C>T (p.Pro95Ser)
NM_000551.3(VHL):c.284C>T (p.Pro95Leu)
NM_000551.3(VHL):c.289C>A (p.Pro97Thr) rs863224688
NM_000551.3(VHL):c.289C>T (p.Pro97Ser) rs863224688
NM_000551.3(VHL):c.28G>A (p.Glu10Lys) rs1057519261
NM_000551.3(VHL):c.291_302del (p.Tyr98_Leu101del)
NM_000551.3(VHL):c.296C>G (p.Pro99Arg) rs1553619452
NM_000551.3(VHL):c.298A>G (p.Thr100Ala) rs745901803
NM_000551.3(VHL):c.299C>T (p.Thr100Met)
NM_000551.3(VHL):c.29A>T (p.Glu10Val) rs786204065
NM_000551.3(VHL):c.305C>T (p.Pro102Leu)
NM_000551.3(VHL):c.307C>G (p.Pro103Ala) rs864622267
NM_000551.3(VHL):c.30G>C (p.Glu10Asp)
NM_000551.3(VHL):c.30G>T (p.Glu10Asp) rs963501454
NM_000551.3(VHL):c.311G>C (p.Gly104Ala) rs869025630
NM_000551.3(VHL):c.312C>T (p.Gly104=) rs946898891
NM_000551.3(VHL):c.315G>A (p.Thr105=) rs769102979
NM_000551.3(VHL):c.319_321CGC[1] (p.Arg108del)
NM_000551.3(VHL):c.31G>C (p.Ala11Pro) rs1236604706
NM_000551.3(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.3(VHL):c.321C>T (p.Arg107=) rs864622334
NM_000551.3(VHL):c.323G>A (p.Arg108His) rs367594943
NM_000551.3(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000551.3(VHL):c.338G>C (p.Arg113Pro) rs767062290
NM_000551.3(VHL):c.340+3A>G
NM_000551.3(VHL):c.340+6G>A
NM_000551.3(VHL):c.341-25_370dup rs1553619923
NM_000551.3(VHL):c.341-5G>T
NM_000551.3(VHL):c.341-6C>G
NM_000551.3(VHL):c.341-8C>G rs1272767361
NM_000551.3(VHL):c.347T>G (p.Leu116Arg) rs879254230
NM_000551.3(VHL):c.34G>C (p.Glu12Gln) rs1064794788
NM_000551.3(VHL):c.36G>C (p.Glu12Asp) rs973493604
NM_000551.3(VHL):c.373C>T (p.His125Tyr) rs375401722
NM_000551.3(VHL):c.376G>A (p.Asp126Asn) rs104893831
NM_000551.3(VHL):c.376G>C (p.Asp126His) rs104893831
NM_000551.3(VHL):c.377A>G (p.Asp126Gly) rs1354593943
NM_000551.3(VHL):c.379_380insCAG (p.Gly127_Leu128insAla) rs1559428103
NM_000551.3(VHL):c.37G>A (p.Val13Ile) rs919338576
NM_000551.3(VHL):c.385C>G (p.Leu129Val) rs369018004
NM_000551.3(VHL):c.38T>G (p.Val13Gly) rs1553619289
NM_000551.3(VHL):c.398C>T (p.Thr133Ile) rs1060503565
NM_000551.3(VHL):c.3G>A (p.Met1Ile) rs578091032
NM_000551.3(VHL):c.3G>C (p.Met1Ile)
NM_000551.3(VHL):c.3G>T (p.Met1Ile) rs578091032
NM_000551.3(VHL):c.408T>G (p.Phe136Leu) rs878854125
NM_000551.3(VHL):c.40G>C (p.Gly14Arg) rs1060503559
NM_000551.3(VHL):c.416C>G (p.Ser139Cys) rs587780732
NM_000551.3(VHL):c.416C>T (p.Ser139Phe) rs587780732
NM_000551.3(VHL):c.418C>T (p.Leu140Phe) rs768637170
NM_000551.3(VHL):c.41G>A (p.Gly14Asp)
NM_000551.3(VHL):c.425T>C (p.Val142Ala) rs1553619979
NM_000551.3(VHL):c.427G>C (p.Asp143His) rs372757722
NM_000551.3(VHL):c.429C>T (p.Asp143=) rs773556807
NM_000551.3(VHL):c.430G>A (p.Gly144Arg)
NM_000551.3(VHL):c.430G>C (p.Gly144Arg) rs869025650
NM_000551.3(VHL):c.434A>T (p.Gln145Leu) rs864622313
NM_000551.3(VHL):c.435G>C (p.Gln145His) rs771727849
NM_000551.3(VHL):c.437C>T (p.Pro146Leu)
NM_000551.3(VHL):c.439A>G (p.Ile147Val) rs1057517560
NM_000551.3(VHL):c.43G>A (p.Ala15Thr) rs1060503568
NM_000551.3(VHL):c.440T>C (p.Ile147Thr) rs1060503555
NM_000551.3(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.3(VHL):c.460C>G (p.Pro154Ala) rs1553619993
NM_000551.3(VHL):c.461C>G (p.Pro154Arg) rs1399097617
NM_000551.3(VHL):c.462A>G (p.Pro154=) rs1060503562
NM_000551.3(VHL):c.463+4C>T rs879253989
NM_000551.3(VHL):c.464-3C>T
NM_000551.3(VHL):c.46G>C (p.Glu16Gln) rs1060503556
NM_000551.3(VHL):c.46G>T (p.Glu16Ter) rs1060503556
NM_000551.3(VHL):c.47A>C (p.Glu16Ala) rs864622379
NM_000551.3(VHL):c.488T>G (p.Leu163Arg) rs28940297
NM_000551.3(VHL):c.48G>C (p.Glu16Asp) rs1057522140
NM_000551.3(VHL):c.493G>T (p.Val165Phe)
NM_000551.3(VHL):c.494T>G (p.Val165Gly)
NM_000551.3(VHL):c.4C>T (p.Pro2Ser)
NM_000551.3(VHL):c.513G>T (p.Lys171Asn) rs1365445365
NM_000551.3(VHL):c.520A>T (p.Asn174Tyr) rs1060503566
NM_000551.3(VHL):c.521A>G (p.Asn174Ser)
NM_000551.3(VHL):c.526A>G (p.Arg176Gly)
NM_000551.3(VHL):c.532C>G (p.Leu178Val)
NM_000551.3(VHL):c.535G>A (p.Asp179Asn) rs767780451
NM_000551.3(VHL):c.538A>G (p.Ile180Val) rs377715747
NM_000551.3(VHL):c.53C>T (p.Ala18Val) rs1553619302
NM_000551.3(VHL):c.541G>A (p.Val181Ile) rs878854127
NM_000551.3(VHL):c.542T>C (p.Val181Ala) rs1553620340
NM_000551.3(VHL):c.544A>G (p.Arg182Gly) rs778205243
NM_000551.3(VHL):c.545G>A (p.Arg182Lys) rs749774529
NM_000551.3(VHL):c.548C>T (p.Ser183Leu) rs5030823
NM_000551.3(VHL):c.553T>C (p.Tyr185His) rs768390987
NM_000551.3(VHL):c.554A>G (p.Tyr185Cys) rs561874453
NM_000551.3(VHL):c.556G>A (p.Glu186Lys) rs367545984
NM_000551.3(VHL):c.568_570dup (p.Asp190dup) rs1559429840
NM_000551.3(VHL):c.572A>C (p.His191Pro) rs370050374
NM_000551.3(VHL):c.572A>G (p.His191Arg)
NM_000551.3(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.3(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.3(VHL):c.578A>G (p.Asn193Ser) rs879254225
NM_000551.3(VHL):c.579T>A (p.Asn193Lys) rs1060503558
NM_000551.3(VHL):c.57del (p.Val20fs) rs1553619308
NM_000551.3(VHL):c.581T>G (p.Val194Gly) rs1131690963
NM_000551.3(VHL):c.585G>C (p.Gln195His) rs878854128
NM_000551.3(VHL):c.586A>G (p.Lys196Glu) rs281860296
NM_000551.3(VHL):c.590A>C (p.Asp197Ala)
NM_000551.3(VHL):c.596A>C (p.Glu199Ala) rs760690217
NM_000551.3(VHL):c.599G>A (p.Arg200Gln) rs754016774
NM_000551.3(VHL):c.5C>G (p.Pro2Arg) rs111246617
NM_000551.3(VHL):c.5C>T (p.Pro2Leu) rs111246617
NM_000551.3(VHL):c.605C>T (p.Thr202Ile) rs779514074
NM_000551.3(VHL):c.610G>C (p.Glu204Gln)
NM_000551.3(VHL):c.610G>T (p.Glu204Ter) rs758853661
NM_000551.3(VHL):c.613C>G (p.Arg205Gly)
NM_000551.3(VHL):c.613C>T (p.Arg205Cys) rs199926195
NM_000551.3(VHL):c.614G>A (p.Arg205His) rs777130107
NM_000551.3(VHL):c.614G>T (p.Arg205Leu) rs777130107
NM_000551.3(VHL):c.617_618delinsAG (p.Ile206Lys) rs1060503567
NM_000551.3(VHL):c.620C>T (p.Ala207Val) rs1060503549
NM_000551.3(VHL):c.625C>G (p.Gln209Glu) rs1559429968
NM_000551.3(VHL):c.628C>T (p.Arg210Trp) rs774380450
NM_000551.3(VHL):c.629G>A (p.Arg210Gln) rs138780791
NM_000551.3(VHL):c.62A>C (p.Glu21Ala) rs1060503548
NM_000551.3(VHL):c.62A>T (p.Glu21Val)
NM_000551.3(VHL):c.631A>C (p.Met211Leu) rs200019083
NM_000551.3(VHL):c.632T>C (p.Met211Thr)
NM_000551.3(VHL):c.634G>T (p.Gly212Ter) rs1553620389
NM_000551.3(VHL):c.638A>G (p.Asp213Gly) rs1553620394
NM_000551.3(VHL):c.70G>A (p.Gly24Ser)
NM_000551.3(VHL):c.70G>T (p.Gly24Cys) rs1438223626
NM_000551.3(VHL):c.71G>A (p.Gly24Asp) rs878854129
NM_000551.3(VHL):c.73C>G (p.Pro25Ala) rs745338799
NM_000551.3(VHL):c.7C>T (p.Arg3Trp) rs878854130
NM_000551.3(VHL):c.82G>A (p.Asp28Asn) rs1553619319
NM_000551.3(VHL):c.83_100dup (p.Asp28_Ser33dup) rs1057517592
NM_000551.3(VHL):c.85G>C (p.Gly29Arg)
NM_000551.3(VHL):c.86G>C (p.Gly29Ala) rs1553619321
NM_000551.3(VHL):c.86_87delinsTT (p.Gly29Val) rs879254115
NM_000551.3(VHL):c.87C>T (p.Gly29=) rs987301475
NM_000551.3(VHL):c.88G>A (p.Gly30Arg)
NM_000551.3(VHL):c.89G>A (p.Gly30Glu) rs1064793290
NM_000551.3(VHL):c.89G>C (p.Gly30Ala)
NM_000551.3(VHL):c.8G>C (p.Arg3Pro) rs1178481595
NM_000551.3(VHL):c.91G>T (p.Glu31Ter) rs1214275235
NM_000551.3(VHL):c.95A>G (p.Glu32Gly) rs786203104
NM_000551.3(VHL):c.98C>A (p.Ser33Ter)
NM_000941.3(POR):c.1384G>C (p.Ala462Pro)
NM_000941.3(POR):c.214T>C (p.Phe72Leu) rs782107314
NM_000941.3(POR):c.513C>G (p.Phe171Leu)
NM_002382.5(MAX):c.133A>G (p.Ser45Gly) rs780865640
NM_002382.5(MAX):c.138G>C (p.Leu46Phe)
NM_002382.5(MAX):c.171+6T>C rs1060500098
NM_002382.5(MAX):c.21C>G (p.Ile7Met) rs760248675
NM_002382.5(MAX):c.25G>T (p.Val9Leu) rs201743423
NM_002382.5(MAX):c.268C>T (p.Arg90Trp) rs1060500099
NM_002382.5(MAX):c.277G>C (p.Ala93Pro) rs1555340540
NM_002382.5(MAX):c.284T>C (p.Leu95Pro) rs878854499
NM_002382.5(MAX):c.285G>A (p.Leu95=) rs878854500
NM_002382.5(MAX):c.295+6C>T rs146552320
NM_002382.5(MAX):c.296-1G>A rs1555340265
NM_002382.5(MAX):c.298C>T (p.Arg100Cys) rs762084527
NM_002382.5(MAX):c.299G>A (p.Arg100His)
NM_002382.5(MAX):c.308A>G (p.Glu103Gly)
NM_002382.5(MAX):c.314C>T (p.Ala105Val) rs769051095
NM_002382.5(MAX):c.329A>C (p.Gln110Pro) rs775808138
NM_002382.5(MAX):c.331C>G (p.Leu111Val) rs748675729
NM_002382.5(MAX):c.337A>T (p.Thr113Ser) rs1060500100
NM_002382.5(MAX):c.341A>C (p.Asn114Thr) rs772912674
NM_002382.5(MAX):c.346C>G (p.Pro116Ala)
NM_002382.5(MAX):c.359A>G (p.Asn120Ser) rs80206158
NM_002382.5(MAX):c.360C>A (p.Asn120Lys) rs1555340209
NM_002382.5(MAX):c.376G>A (p.Ala126Thr)
NM_002382.5(MAX):c.388A>G (p.Thr130Ala) rs1566598180
NM_002382.5(MAX):c.397G>A (p.Ala133Thr) rs750459929
NM_002382.5(MAX):c.403G>C (p.Asp135His)
NM_002382.5(MAX):c.406G>A (p.Gly136Arg) rs140490467
NM_002382.5(MAX):c.410G>A (p.Gly137Asp)
NM_002382.5(MAX):c.414G>A (p.Ser138=) rs559090673
NM_002382.5(MAX):c.415G>A (p.Asp139Asn) rs772397458
NM_002382.5(MAX):c.41A>G (p.Glu14Gly) rs876660888
NM_002382.5(MAX):c.425C>T (p.Ser142Leu) rs760147253
NM_002382.5(MAX):c.442dup (p.Glu148fs) rs1566597938
NM_002382.5(MAX):c.466C>T (p.Arg156Trp)
NM_002382.5(MAX):c.467G>A (p.Arg156Gln) rs876659544
NM_002382.5(MAX):c.56A>T (p.Gln19Leu) rs200547781
NM_002734.4(PRKAR1A):c.101C>G (p.Ser34Cys)
NM_002734.4(PRKAR1A):c.1024C>T (p.Arg342Cys) rs146383819
NM_002734.4(PRKAR1A):c.1025G>A (p.Arg342His) rs760033566
NM_002734.4(PRKAR1A):c.1031C>T (p.Pro344Leu)
NM_002734.4(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504
NM_002734.4(PRKAR1A):c.1042G>A (p.Val348Ile) rs772571340
NM_002734.4(PRKAR1A):c.1062A>G (p.Arg354=)
NM_002734.4(PRKAR1A):c.1079G>T (p.Gly360Val)
NM_002734.4(PRKAR1A):c.1081C>G (p.Pro361Ala)
NM_002734.4(PRKAR1A):c.1088C>T (p.Ser363Leu) rs1555815165
NM_002734.4(PRKAR1A):c.121G>A (p.Ala41Thr) rs1356757839
NM_002734.4(PRKAR1A):c.125G>A (p.Arg42Gln)
NM_002734.4(PRKAR1A):c.13A>C (p.Ser5Arg)
NM_002734.4(PRKAR1A):c.151A>G (p.Arg51Gly)
NM_002734.4(PRKAR1A):c.155A>G (p.Glu52Gly)
NM_002734.4(PRKAR1A):c.166A>G (p.Arg56Gly)
NM_002734.4(PRKAR1A):c.177+7A>G rs1555811756
NM_002734.4(PRKAR1A):c.178-3C>T
NM_002734.4(PRKAR1A):c.196C>A (p.Gln66Lys)
NM_002734.4(PRKAR1A):c.19G>A (p.Ala7Thr) rs369210646
NM_002734.4(PRKAR1A):c.218C>G (p.Thr73Ser)
NM_002734.4(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303
NM_002734.4(PRKAR1A):c.221G>C (p.Arg74Pro)
NM_002734.4(PRKAR1A):c.25A>G (p.Ser9Gly)
NM_002734.4(PRKAR1A):c.260C>T (p.Pro87Leu)
NM_002734.4(PRKAR1A):c.271G>A (p.Val91Ile) rs759197325
NM_002734.4(PRKAR1A):c.280_282AGG[1] (p.Arg97del)
NM_002734.4(PRKAR1A):c.287G>A (p.Arg96Gln) rs1555813215
NM_002734.4(PRKAR1A):c.296C>T (p.Ala99Val) rs1568695224
NM_002734.4(PRKAR1A):c.317C>T (p.Thr106Met)
NM_002734.4(PRKAR1A):c.320A>C (p.Glu107Ala)
NM_002734.4(PRKAR1A):c.329C>T (p.Ala110Val) rs1194755479
NM_002734.4(PRKAR1A):c.331G>A (p.Ala111Thr) rs1472324247
NM_002734.4(PRKAR1A):c.349-5T>C rs1456043929
NM_002734.4(PRKAR1A):c.355C>A (p.Pro119Thr)
NM_002734.4(PRKAR1A):c.35C>G (p.Ala12Gly)
NM_002734.4(PRKAR1A):c.424_426GAT[1] (p.Asp143del)
NM_002734.4(PRKAR1A):c.441-5T>G rs771949207
NM_002734.4(PRKAR1A):c.464C>T (p.Ser155Leu) rs1568696484
NM_002734.4(PRKAR1A):c.470C>T (p.Ser157Phe) rs776071358
NM_002734.4(PRKAR1A):c.478G>A (p.Ala160Thr) rs765675434
NM_002734.4(PRKAR1A):c.489T>G (p.Thr163=) rs143672551
NM_002734.4(PRKAR1A):c.4G>C (p.Glu2Gln)
NM_002734.4(PRKAR1A):c.502+2dup rs1555813585
NM_002734.4(PRKAR1A):c.506A>G (p.Asp169Gly)
NM_002734.4(PRKAR1A):c.535C>G (p.Gln179Glu)
NM_002734.4(PRKAR1A):c.545C>T (p.Thr182Met) rs199801675
NM_002734.4(PRKAR1A):c.552C>G (p.Val184=) rs751501857
NM_002734.4(PRKAR1A):c.567A>C (p.Glu189Asp) rs767405408
NM_002734.4(PRKAR1A):c.567A>T (p.Glu189Asp)
NM_002734.4(PRKAR1A):c.571G>A (p.Ala191Thr) rs1555814054
NM_002734.4(PRKAR1A):c.577A>G (p.Ser193Gly)
NM_002734.4(PRKAR1A):c.596G>A (p.Ser199Asn) rs755798109
NM_002734.4(PRKAR1A):c.60C>G (p.Leu20=) rs372451862
NM_002734.4(PRKAR1A):c.626C>T (p.Thr209Ile)
NM_002734.4(PRKAR1A):c.64G>T (p.Val22Phe) rs878854561
NM_002734.4(PRKAR1A):c.71A>G (p.Lys24Arg) rs763158372
NM_002734.4(PRKAR1A):c.733A>G (p.Met245Val)
NM_002734.4(PRKAR1A):c.73C>T (p.His25Tyr)
NM_002734.4(PRKAR1A):c.761C>G (p.Ser254Cys) rs1555814475
NM_002734.4(PRKAR1A):c.769+3G>A rs1555814484
NM_002734.4(PRKAR1A):c.778G>C (p.Asp260His) rs1255519868
NM_002734.4(PRKAR1A):c.782A>G (p.Lys261Arg) rs1568701297
NM_002734.4(PRKAR1A):c.838C>G (p.Gln280Glu) rs1568701408
NM_002734.4(PRKAR1A):c.850G>A (p.Val284Met)
NM_002734.4(PRKAR1A):c.85G>T (p.Ala29Ser) rs760726941
NM_002734.4(PRKAR1A):c.86C>T (p.Ala29Val)
NM_002734.4(PRKAR1A):c.891+6G>A rs1222751049
NM_002734.4(PRKAR1A):c.891+6G>T
NM_002734.4(PRKAR1A):c.914G>A (p.Arg305His) rs768253469
NM_002734.4(PRKAR1A):c.94A>G (p.Lys32Glu) rs756985434
NM_002734.4(PRKAR1A):c.959C>T (p.Pro320Leu)
NM_002734.4(PRKAR1A):c.972T>C (p.Phe324=)
NM_002734.4(PRKAR1A):c.973+3A>T
NM_002734.4(PRKAR1A):c.973+4T>G rs1555815055
NM_002734.4(PRKAR1A):c.974-6C>A rs745570426
NM_003000.2(SDHB):c.106G>T (p.Ala36Ser) rs1204932232
NM_003000.2(SDHB):c.112C>T (p.Arg38Cys) rs202119350
NM_003000.2(SDHB):c.113G>C (p.Arg38Pro)
NM_003000.2(SDHB):c.120G>C (p.Lys40Asn)
NM_003000.2(SDHB):c.130A>G (p.Ile44Val) rs200418115
NM_003000.2(SDHB):c.138A>G (p.Arg46=)
NM_003000.2(SDHB):c.13G>C (p.Val5Leu) rs962717797
NM_003000.2(SDHB):c.13G>T (p.Val5Phe)
NM_003000.2(SDHB):c.148G>C (p.Asp50His) rs1060503765
NM_003000.2(SDHB):c.14T>C (p.Val5Ala)
NM_003000.2(SDHB):c.14T>G (p.Val5Gly) rs760565241
NM_003000.2(SDHB):c.150C>A (p.Asp50Glu)
NM_003000.2(SDHB):c.155C>A (p.Ala52Asp) rs878854573
NM_003000.2(SDHB):c.161A>T (p.Asp54Val) rs1553178735
NM_003000.2(SDHB):c.164A>G (p.Lys55Arg)
NM_003000.2(SDHB):c.172A>G (p.Met58Val) rs1201188410
NM_003000.2(SDHB):c.177G>C (p.Gln59His) rs1277374324
NM_003000.2(SDHB):c.178A>G (p.Thr60Ala) rs34599281
NM_003000.2(SDHB):c.179C>T (p.Thr60Ile)
NM_003000.2(SDHB):c.188T>C (p.Val63Ala) rs1230335211
NM_003000.2(SDHB):c.192C>A (p.Asp64Glu)
NM_003000.2(SDHB):c.193C>T (p.Leu65Phe) rs786202185
NM_003000.2(SDHB):c.194T>C (p.Leu65Pro) rs876659329
NM_003000.2(SDHB):c.19C>T (p.Leu7Phe) rs745664191
NM_003000.2(SDHB):c.200+4A>G
NM_003000.2(SDHB):c.201-10T>A
NM_003000.2(SDHB):c.203G>A (p.Cys68Tyr) rs587782904
NM_003000.2(SDHB):c.208C>A (p.Pro70Thr) rs200890320
NM_003000.2(SDHB):c.214G>A (p.Val72Ile) rs1060503766
NM_003000.2(SDHB):c.220G>A (p.Asp74Asn)
NM_003000.2(SDHB):c.231C>G (p.Ile77Met)
NM_003000.2(SDHB):c.233A>G (p.Lys78Arg) rs774960237
NM_003000.2(SDHB):c.234G>T (p.Lys78Asn)
NM_003000.2(SDHB):c.23C>T (p.Ser8Phe)
NM_003000.2(SDHB):c.248T>C (p.Val83Ala) rs763547482
NM_003000.2(SDHB):c.256A>G (p.Thr86Ala)
NM_003000.2(SDHB):c.25T>G (p.Leu9Val) rs1060503768
NM_003000.2(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.2(SDHB):c.263C>G (p.Thr88Ser) rs915794675
NM_003000.2(SDHB):c.267C>G (p.Phe89Leu) rs1553178042
NM_003000.2(SDHB):c.269G>A (p.Arg90Gln) rs570278423
NM_003000.2(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.2(SDHB):c.287G>A (p.Gly96Asp) rs778952116
NM_003000.2(SDHB):c.289A>T (p.Ile97Phe) rs1553177769
NM_003000.2(SDHB):c.293G>A (p.Cys98Tyr) rs1553177768
NM_003000.2(SDHB):c.299C>G (p.Ser100Cys) rs121917755
NM_003000.2(SDHB):c.307A>G (p.Met103Val) rs140178341
NM_003000.2(SDHB):c.308T>C (p.Met103Thr) rs1553177765
NM_003000.2(SDHB):c.309G>A (p.Met103Ile)
NM_003000.2(SDHB):c.316A>G (p.Asn106Asp) rs1557741510
NM_003000.2(SDHB):c.317A>G (p.Asn106Ser) rs934514080
NM_003000.2(SDHB):c.31C>T (p.Arg11Cys) rs200868378
NM_003000.2(SDHB):c.323G>A (p.Gly108Asp)
NM_003000.2(SDHB):c.326A>G (p.Asn109Ser)
NM_003000.2(SDHB):c.335C>G (p.Ala112Gly) rs1553177762
NM_003000.2(SDHB):c.34C>T (p.Arg12Trp) rs761996626
NM_003000.2(SDHB):c.350T>C (p.Ile117Thr) rs1553177755
NM_003000.2(SDHB):c.352G>A (p.Asp118Asn) rs200021702
NM_003000.2(SDHB):c.356C>A (p.Thr119Asn)
NM_003000.2(SDHB):c.359A>G (p.Asn120Ser) rs1553177746
NM_003000.2(SDHB):c.35G>C (p.Arg12Pro) rs1293365726
NM_003000.2(SDHB):c.361C>T (p.Leu121Phe) rs1194401420
NM_003000.2(SDHB):c.368A>C (p.Lys123Thr) rs1557741464
NM_003000.2(SDHB):c.371T>C (p.Val124Ala) rs1557741456
NM_003000.2(SDHB):c.376A>G (p.Lys126Glu)
NM_003000.2(SDHB):c.379A>C (p.Ile127Leu) rs201372280
NM_003000.2(SDHB):c.383A>G (p.Tyr128Cys) rs772158627
NM_003000.2(SDHB):c.385C>G (p.Pro129Ala) rs1553177740
NM_003000.2(SDHB):c.395A>G (p.His132Arg) rs74315372
NM_003000.2(SDHB):c.397A>G (p.Met133Val)
NM_003000.2(SDHB):c.398T>C (p.Met133Thr)
NM_003000.2(SDHB):c.39G>C (p.Leu13Phe)
NM_003000.2(SDHB):c.39G>T (p.Leu13Phe) rs201745731
NM_003000.2(SDHB):c.403G>A (p.Val135Met) rs201585157
NM_003000.2(SDHB):c.413A>G (p.Asp138Gly)
NM_003000.2(SDHB):c.41C>T (p.Pro14Leu) rs764089231
NM_003000.2(SDHB):c.422C>G (p.Pro141Arg) rs1553177734
NM_003000.2(SDHB):c.423C>T (p.Pro141=) rs150542357
NM_003000.2(SDHB):c.424-3C>G rs1557741166
NM_003000.2(SDHB):c.424-5C>G rs1553177690
NM_003000.2(SDHB):c.425A>T (p.Asp142Val)
NM_003000.2(SDHB):c.436T>G (p.Phe146Val) rs1553177689
NM_003000.2(SDHB):c.440A>G (p.Tyr147Cys) rs774568101
NM_003000.2(SDHB):c.446A>G (p.Gln149Arg)
NM_003000.2(SDHB):c.455C>T (p.Ser152Phe) rs200414835
NM_003000.2(SDHB):c.457A>T (p.Ile153Phe) rs1450956956
NM_003000.2(SDHB):c.463C>T (p.Pro155Ser) rs763008243
NM_003000.2(SDHB):c.464C>T (p.Pro155Leu) rs1553177686
NM_003000.2(SDHB):c.46A>C (p.Thr16Pro) rs1433760506
NM_003000.2(SDHB):c.46A>G (p.Thr16Ala)
NM_003000.2(SDHB):c.472_474AAG[2] (p.Lys160del) rs1173714647
NM_003000.2(SDHB):c.47C>G (p.Thr16Arg) rs775350144
NM_003000.2(SDHB):c.47C>T (p.Thr16Ile)
NM_003000.2(SDHB):c.481G>A (p.Asp161Asn) rs1553177682
NM_003000.2(SDHB):c.482A>G (p.Asp161Gly) rs1049317868
NM_003000.2(SDHB):c.482A>T (p.Asp161Val)
NM_003000.2(SDHB):c.488C>T (p.Ser163Phe) rs769687734
NM_003000.2(SDHB):c.497G>A (p.Gly166Asp) rs1060503760
NM_003000.2(SDHB):c.49A>G (p.Thr17Ala) rs1060503756
NM_003000.2(SDHB):c.50C>A (p.Thr17Asn) rs138979875
NM_003000.2(SDHB):c.50C>T (p.Thr17Ile) rs138979875
NM_003000.2(SDHB):c.520A>G (p.Ile174Val)
NM_003000.2(SDHB):c.521T>C (p.Ile174Thr) rs200301019
NM_003000.2(SDHB):c.523G>A (p.Glu175Lys)
NM_003000.2(SDHB):c.523G>C (p.Glu175Gln) rs202203339
NM_003000.2(SDHB):c.527A>G (p.Glu176Gly) rs201082445
NM_003000.2(SDHB):c.529C>A (p.Arg177Ser) rs149091125
NM_003000.2(SDHB):c.529C>T (p.Arg177Cys) rs149091125
NM_003000.2(SDHB):c.530G>A (p.Arg177His) rs150437793
NM_003000.2(SDHB):c.536A>T (p.Lys179Ile) rs1553177670
NM_003000.2(SDHB):c.540+4A>G rs1557741074
NM_003000.2(SDHB):c.540+5T>C rs1557741072
NM_003000.2(SDHB):c.541-3C>T rs751920183
NM_003000.2(SDHB):c.541-8C>G
NM_003000.2(SDHB):c.541G>A (p.Asp181Asn) rs201385062
NM_003000.2(SDHB):c.544G>A (p.Gly182Arg) rs201928318
NM_003000.2(SDHB):c.544G>T (p.Gly182Trp)
NM_003000.2(SDHB):c.547C>T (p.Leu183Phe) rs1557740003
NM_003000.2(SDHB):c.553G>A (p.Glu185Lys) rs1045881797
NM_003000.2(SDHB):c.557G>C (p.Cys186Ser) rs1553177440
NM_003000.2(SDHB):c.559A>G (p.Ile187Val) rs1557739989
NM_003000.2(SDHB):c.562C>G (p.Leu188Val) rs1392463987
NM_003000.2(SDHB):c.581C>G (p.Thr194Ser) rs200535030
NM_003000.2(SDHB):c.584G>C (p.Ser195Thr)
NM_003000.2(SDHB):c.593G>C (p.Ser198Thr)
NM_003000.2(SDHB):c.5C>T (p.Ala2Val) rs199948437
NM_003000.2(SDHB):c.607G>A (p.Gly203Arg) rs201517260
NM_003000.2(SDHB):c.608G>C (p.Gly203Ala) rs1553177435
NM_003000.2(SDHB):c.612C>G (p.Asp204Glu) rs1553177433
NM_003000.2(SDHB):c.614A>G (p.Lys205Arg) rs774090318
NM_003000.2(SDHB):c.634C>T (p.Leu212Phe) rs1228560456
NM_003000.2(SDHB):c.637A>G (p.Met213Val) rs770622939
NM_003000.2(SDHB):c.638T>C (p.Met213Thr) rs202014362
NM_003000.2(SDHB):c.641A>G (p.Gln214Arg) rs781590955
NM_003000.2(SDHB):c.642+3G>A rs878854577
NM_003000.2(SDHB):c.642+4A>G rs1225871505
NM_003000.2(SDHB):c.642+5G>A
NM_003000.2(SDHB):c.642G>C (p.Gln214His) rs1278834014
NM_003000.2(SDHB):c.644C>T (p.Ala215Val) rs1060503761
NM_003000.2(SDHB):c.647A>G (p.Tyr216Cys) rs1553177291
NM_003000.2(SDHB):c.649C>G (p.Arg217Gly) rs200245469
NM_003000.2(SDHB):c.650G>A (p.Arg217His) rs747518441
NM_003000.2(SDHB):c.658A>G (p.Ile220Val) rs1188548211
NM_003000.2(SDHB):c.659T>C (p.Ile220Thr) rs878854578
NM_003000.2(SDHB):c.65G>A (p.Cys22Tyr) rs141230910
NM_003000.2(SDHB):c.65G>C (p.Cys22Ser) rs141230910
NM_003000.2(SDHB):c.65G>T (p.Cys22Phe) rs141230910
NM_003000.2(SDHB):c.661G>A (p.Asp221Asn) rs1553177288
NM_003000.2(SDHB):c.673G>A (p.Asp225Asn)
NM_003000.2(SDHB):c.676T>C (p.Phe226Leu)
NM_003000.2(SDHB):c.679A>G (p.Thr227Ala)
NM_003000.2(SDHB):c.67C>G (p.Leu23Val) rs1553179319
NM_003000.2(SDHB):c.687G>C (p.Glu229Asp) rs1060503754
NM_003000.2(SDHB):c.695C>T (p.Ala232Val) rs746224555
NM_003000.2(SDHB):c.704A>G (p.Gln235Arg)
NM_003000.2(SDHB):c.709C>T (p.Pro237Ser) rs186768244
NM_003000.2(SDHB):c.710C>G (p.Pro237Arg) rs878854579
NM_003000.2(SDHB):c.714C>A (p.Phe238Leu) rs1553177278
NM_003000.2(SDHB):c.716C>A (p.Ser239Tyr)
NM_003000.2(SDHB):c.716C>G (p.Ser239Cys) rs201098090
NM_003000.2(SDHB):c.716C>T (p.Ser239Phe) rs201098090
NM_003000.2(SDHB):c.71A>C (p.Gln24Pro) rs878854580
NM_003000.2(SDHB):c.72+3G>A rs569245129
NM_003000.2(SDHB):c.72+5G>A rs878854581
NM_003000.2(SDHB):c.721T>G (p.Tyr241Asp) rs1060503758
NM_003000.2(SDHB):c.722A>G (p.Tyr241Cys) rs878854582
NM_003000.2(SDHB):c.72G>A (p.Gln24=) rs1553179312
NM_003000.2(SDHB):c.73-6T>A
NM_003000.2(SDHB):c.73-?_*159+?dup
NM_003000.2(SDHB):c.736A>G (p.Ile246Val) rs146800605
NM_003000.2(SDHB):c.739A>G (p.Met247Val) rs200896502
NM_003000.2(SDHB):c.73G>A (p.Ala25Thr)
NM_003000.2(SDHB):c.73G>C (p.Ala25Pro) rs768101924
NM_003000.2(SDHB):c.749C>T (p.Thr250Ile) rs1057517537
NM_003000.2(SDHB):c.756_765+4delCTGTCCTAAGGTAC rs1553177267
NM_003000.2(SDHB):c.761C>T (p.Pro254Leu) rs948484408
NM_003000.2(SDHB):c.763A>G (p.Lys255Glu)
NM_003000.2(SDHB):c.765+4C>A
NM_003000.2(SDHB):c.765+4C>T
NM_003000.2(SDHB):c.765+5G>A rs199945904
NM_003000.2(SDHB):c.765G>C (p.Lys255Asn)
NM_003000.2(SDHB):c.769C>G (p.Leu257Val)
NM_003000.2(SDHB):c.770T>G (p.Leu257Arg)
NM_003000.2(SDHB):c.773A>C (p.Asn258Thr)
NM_003000.2(SDHB):c.782A>C (p.Lys261Thr) rs1553176980
NM_003000.2(SDHB):c.791C>A (p.Ala264Glu) rs1557738283
NM_003000.2(SDHB):c.79C>G (p.Arg27Gly) rs74315369
NM_003000.2(SDHB):c.801G>C (p.Lys267Asn)
NM_003000.2(SDHB):c.802A>T (p.Lys268Ter) rs1060503755
NM_003000.2(SDHB):c.805A>G (p.Met269Val)
NM_003000.2(SDHB):c.808A>G (p.Met270Val) rs878854584
NM_003000.2(SDHB):c.80G>A (p.Arg27Gln) rs373976827
NM_003000.2(SDHB):c.814A>G (p.Thr272Ala) rs545681543
NM_003000.2(SDHB):c.819T>A (p.Tyr273Ter) rs1553176966
NM_003000.2(SDHB):c.820A>G (p.Lys274Glu) rs1273897502
NM_003000.2(SDHB):c.835T>A (p.Ser279Thr)
NM_003000.2(SDHB):c.8C>T (p.Ala3Val) rs11203289
NM_003000.2(SDHB):c.92C>T (p.Thr31Ile) rs1553178750
NM_003000.2(SDHB):c.95C>T (p.Ala32Val)
NM_003001.3(SDHC):c.10C>G (p.Leu4Val) rs770796603
NM_003001.3(SDHC):c.114G>C (p.Met38Ile) rs868556406
NM_003001.3(SDHC):c.116A>C (p.Glu39Ala) rs1060501388
NM_003001.3(SDHC):c.118C>G (p.Arg40Gly)
NM_003001.3(SDHC):c.118C>T (p.Arg40Trp) rs978019587
NM_003001.3(SDHC):c.119G>A (p.Arg40Gln) rs772450693
NM_003001.3(SDHC):c.11T>C (p.Leu4Pro) rs774299337
NM_003001.3(SDHC):c.127A>C (p.Asn43His) rs1553262439
NM_003001.3(SDHC):c.128A>G (p.Asn43Ser) rs747349777
NM_003001.3(SDHC):c.136A>G (p.Ile46Val) rs1558167321
NM_003001.3(SDHC):c.13T>A (p.Leu5Met)
NM_003001.3(SDHC):c.140G>C (p.Gly47Ala)
NM_003001.3(SDHC):c.146A>G (p.Asn49Ser)
NM_003001.3(SDHC):c.149G>A (p.Arg50His)
NM_003001.3(SDHC):c.149G>T (p.Arg50Leu) rs769177037
NM_003001.3(SDHC):c.14T>C (p.Leu5Ser) rs1277411736
NM_003001.3(SDHC):c.15G>T (p.Leu5Phe) rs771746264
NM_003001.3(SDHC):c.160C>A (p.Pro54Thr) rs1553262444
NM_003001.3(SDHC):c.164A>G (p.His55Arg) rs878854585
NM_003001.3(SDHC):c.166A>C (p.Ile56Leu) rs1363555121
NM_003001.3(SDHC):c.178A>G (p.Ser60Gly)
NM_003001.3(SDHC):c.179+3A>C
NM_003001.3(SDHC):c.185C>G (p.Ser62Cys) rs1558174466
NM_003001.3(SDHC):c.190C>T (p.Pro64Ser)
NM_003001.3(SDHC):c.193A>G (p.Met65Val) rs1060501392
NM_003001.3(SDHC):c.197C>G (p.Ala66Gly)
NM_003001.3(SDHC):c.197C>T (p.Ala66Val) rs760572684
NM_003001.3(SDHC):c.20+3G>A rs377566366
NM_003001.3(SDHC):c.200T>C (p.Met67Thr) rs1287584713
NM_003001.3(SDHC):c.205A>G (p.Ile69Val) rs753561812
NM_003001.3(SDHC):c.215G>A (p.Arg72His) rs778582853
NM_003001.3(SDHC):c.220A>G (p.Thr74Ala) rs1060501391
NM_003001.3(SDHC):c.221C>T (p.Thr74Ile) rs1332910409
NM_003001.3(SDHC):c.224G>A (p.Gly75Asp) rs786205147
NM_003001.3(SDHC):c.226A>G (p.Ile76Val) rs1060501389
NM_003001.3(SDHC):c.22C>T (p.His8Tyr) rs746666691
NM_003001.3(SDHC):c.230C>A (p.Ala77Asp) rs1060501393
NM_003001.3(SDHC):c.238G>A (p.Ala80Thr) rs149375851
NM_003001.3(SDHC):c.241+3A>G rs1413662099
NM_003001.3(SDHC):c.241+5G>A rs1167538377
NM_003001.3(SDHC):c.243G>T (p.Gly81=)
NM_003001.3(SDHC):c.244G>T (p.Val82Phe) rs570325845
NM_003001.3(SDHC):c.247T>C (p.Ser83Pro) rs1558182753
NM_003001.3(SDHC):c.247T>G (p.Ser83Ala)
NM_003001.3(SDHC):c.24C>A (p.His8Gln) rs761381438
NM_003001.3(SDHC):c.250C>G (p.Leu84Val)
NM_003001.3(SDHC):c.259A>C (p.Met87Leu)
NM_003001.3(SDHC):c.259A>G (p.Met87Val)
NM_003001.3(SDHC):c.25G>A (p.Val9Ile) rs774768866
NM_003001.3(SDHC):c.261G>T (p.Met87Ile) rs1558182772
NM_003001.3(SDHC):c.263C>T (p.Ser88Leu) rs778212096
NM_003001.3(SDHC):c.264G>A (p.Ser88=) rs1277488324
NM_003001.3(SDHC):c.271T>G (p.Leu91Val)
NM_003001.3(SDHC):c.282G>T (p.Gly94=) rs536197277
NM_003001.3(SDHC):c.292T>G (p.Ser98Ala) rs371462564
NM_003001.3(SDHC):c.295T>C (p.Tyr99His) rs760678574
NM_003001.3(SDHC):c.296A>G (p.Tyr99Cys) rs1060501390
NM_003001.3(SDHC):c.301G>A (p.Glu101Lys)
NM_003001.3(SDHC):c.304C>T (p.Leu102Phe)
NM_003001.3(SDHC):c.31C>T (p.Arg11Cys)
NM_003001.3(SDHC):c.326G>C (p.Gly109Ala)
NM_003001.3(SDHC):c.329C>T (p.Pro110Leu)
NM_003001.3(SDHC):c.32G>A (p.Arg11His) rs767802663
NM_003001.3(SDHC):c.32G>T (p.Arg11Leu) rs767802663
NM_003001.3(SDHC):c.334C>G (p.Leu112Val)
NM_003001.3(SDHC):c.337A>G (p.Ile113Val) rs1558182863
NM_003001.3(SDHC):c.358C>T (p.Leu120Phe) rs1161002093
NM_003001.3(SDHC):c.364T>C (p.Phe122Leu) rs1553265808
NM_003001.3(SDHC):c.368C>T (p.Pro123Leu)
NM_003001.3(SDHC):c.370C>G (p.Leu124Val)
NM_003001.3(SDHC):c.374T>C (p.Met125Thr) rs1060501387
NM_003001.3(SDHC):c.374T>G (p.Met125Arg) rs1060501387
NM_003001.3(SDHC):c.377A>G (p.Tyr126Cys) rs898854295
NM_003001.3(SDHC):c.380A>G (p.His127Arg) rs786203457
NM_003001.3(SDHC):c.387G>C (p.Trp129Cys) rs981049067
NM_003001.3(SDHC):c.38G>T (p.Cys13Phe) rs1558164528
NM_003001.3(SDHC):c.398G>A (p.Arg133Gln) rs386833414
NM_003001.3(SDHC):c.403T>A (p.Leu135Met) rs1455783076
NM_003001.3(SDHC):c.406-3C>T rs372490900
NM_003001.3(SDHC):c.406-6C>G rs1337338303
NM_003001.3(SDHC):c.40C>T (p.Leu14Phe) rs760986608
NM_003001.3(SDHC):c.410G>T (p.Trp137Leu) rs1060501385
NM_003001.3(SDHC):c.422A>G (p.Lys141Arg) rs1558185879
NM_003001.3(SDHC):c.432G>T (p.Lys144Asn) rs1366410028
NM_003001.3(SDHC):c.434T>C (p.Ile145Thr) rs1553266487
NM_003001.3(SDHC):c.436C>A (p.Pro146Thr) rs541660851
NM_003001.3(SDHC):c.44G>A (p.Arg15Gln)
NM_003001.3(SDHC):c.451T>C (p.Ser151Pro) rs1558185927
NM_003001.3(SDHC):c.454G>A (p.Gly152Arg) rs1558185932
NM_003001.3(SDHC):c.455G>T (p.Gly152Val) rs1060501386
NM_003001.3(SDHC):c.461T>C (p.Val154Ala) rs1378160712
NM_003001.3(SDHC):c.46G>A (p.Ala16Thr)
NM_003001.3(SDHC):c.476C>T (p.Thr159Ile)
NM_003001.3(SDHC):c.478G>A (p.Val160Met) rs1553266502
NM_003001.3(SDHC):c.47C>A (p.Ala16Asp) rs1558164567
NM_003001.3(SDHC):c.47C>T (p.Ala16Val) rs1558164567
NM_003001.3(SDHC):c.490A>G (p.Met164Val)
NM_003001.3(SDHC):c.497T>G (p.Leu166Arg)
NM_003001.3(SDHC):c.4G>A (p.Ala2Thr) rs1198315342
NM_003001.3(SDHC):c.505_507delinsTTT (p.Met169Phe)
NM_003001.3(SDHC):c.54T>G (p.Phe18Leu) rs200761743
NM_003001.3(SDHC):c.5C>G (p.Ala2Gly)
NM_003001.3(SDHC):c.61C>G (p.Gln21Glu) rs1553261768
NM_003001.3(SDHC):c.64C>T (p.Leu22Phe) rs1473438869
NM_003001.3(SDHC):c.73A>G (p.Arg25Gly) rs878854587
NM_003001.3(SDHC):c.7G>A (p.Ala3Thr) rs748243732
NM_003001.3(SDHC):c.7G>T (p.Ala3Ser) rs748243732
NM_003001.3(SDHC):c.82G>A (p.Val28Ile)
NM_003001.3(SDHC):c.82G>T (p.Val28Phe)
NM_003001.3(SDHC):c.85C>G (p.Pro29Ala) rs878854588
NM_003001.3(SDHC):c.8C>T (p.Ala3Val) rs142139022
NM_003001.3(SDHC):c.94A>G (p.Thr32Ala) rs1457574786
NM_003001.3(SDHC):c.98C>T (p.Thr33Met) rs148566767
NM_003001.3(SDHC):c.99G>A (p.Thr33=) rs145535502
NM_003002.4(SDHD):c.101T>G (p.Phe34Cys) rs141802836
NM_003002.4(SDHD):c.107A>G (p.Gln36Arg) rs759143732
NM_003002.4(SDHD):c.113G>C (p.Arg38Pro) rs199901239
NM_003002.4(SDHD):c.116C>T (p.Pro39Leu)
NM_003002.4(SDHD):c.118A>C (p.Ile40Leu) rs146276662
NM_003002.4(SDHD):c.118A>G (p.Ile40Val) rs146276662
NM_003002.4(SDHD):c.119T>C (p.Ile40Thr)
NM_003002.4(SDHD):c.121C>G (p.Pro41Ala) rs764006625
NM_003002.4(SDHD):c.122C>T (p.Pro41Leu)
NM_003002.4(SDHD):c.131G>A (p.Cys44Tyr) rs1566692479
NM_003002.4(SDHD):c.136G>A (p.Val46Met) rs886047699
NM_003002.4(SDHD):c.13T>C (p.Trp5Arg) rs778202647
NM_003002.4(SDHD):c.140A>G (p.Gln47Arg) rs899706404
NM_003002.4(SDHD):c.146T>C (p.Ile49Thr) rs1555186808
NM_003002.4(SDHD):c.147A>G (p.Ile49Met) rs1566692534
NM_003002.4(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.4(SDHD):c.148C>T (p.His50Tyr) rs779249550
NM_003002.4(SDHD):c.158C>T (p.Pro53Leu) rs149516118
NM_003002.4(SDHD):c.167A>C (p.His56Pro) rs1555186817
NM_003002.4(SDHD):c.16A>G (p.Arg6Gly)
NM_003002.4(SDHD):c.176C>T (p.Ser59Phe)
NM_003002.4(SDHD):c.18G>T (p.Arg6Ser)
NM_003002.4(SDHD):c.194A>G (p.His65Arg) rs780226013
NM_003002.4(SDHD):c.199_201delinsGCC (p.Thr67Ala) rs1555186981
NM_003002.4(SDHD):c.200C>A (p.Thr67Asn)
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys) rs202198133
NM_003002.4(SDHD):c.209G>A (p.Arg70Lys) rs755047928
NM_003002.4(SDHD):c.211G>A (p.Val71Ile) rs1428042303
NM_003002.4(SDHD):c.217A>G (p.Ser73Gly) rs748545223
NM_003002.4(SDHD):c.224T>C (p.Leu75Ser) rs1060503777
NM_003002.4(SDHD):c.232G>C (p.Gly78Arg)
NM_003002.4(SDHD):c.238C>T (p.Leu80Phe)
NM_003002.4(SDHD):c.243G>A (p.Pro81=)
NM_003002.4(SDHD):c.244G>C (p.Ala82Pro) rs745559875
NM_003002.4(SDHD):c.248C>T (p.Ala83Val) rs370165653
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe) rs199517389
NM_003002.4(SDHD):c.255G>T (p.Leu85Phe) rs199517389
NM_003002.4(SDHD):c.25G>A (p.Ala9Thr)
NM_003002.4(SDHD):c.25G>T (p.Ala9Ser)
NM_003002.4(SDHD):c.263G>T (p.Cys88Phe)
NM_003002.4(SDHD):c.268G>A (p.Ala90Thr)
NM_003002.4(SDHD):c.268_269delinsTT (p.Ala90Leu) rs1555187033
NM_003002.4(SDHD):c.269C>A (p.Ala90Glu) rs200255724
NM_003002.4(SDHD):c.269C>T (p.Ala90Val) rs200255724
NM_003002.4(SDHD):c.26C>G (p.Ala9Gly)
NM_003002.4(SDHD):c.272T>A (p.Met91Lys)
NM_003002.4(SDHD):c.275A>T (p.Asp92Val) rs786205436
NM_003002.4(SDHD):c.277T>C (p.Tyr93His)
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys) rs142135772
NM_003002.4(SDHD):c.281C>G (p.Ser94Cys) rs199754684
NM_003002.4(SDHD):c.281C>T (p.Ser94Phe)
NM_003002.4(SDHD):c.288_290del (p.Ala98del) rs1566694825
NM_003002.4(SDHD):c.28G>A (p.Val10Ile) rs1555186671
NM_003002.4(SDHD):c.290C>T (p.Ala97Val) rs756533450
NM_003002.4(SDHD):c.293C>T (p.Ala98Val) rs200980609
NM_003002.4(SDHD):c.298A>G (p.Thr100Ala) rs1555187065
NM_003002.4(SDHD):c.304C>A (p.His102Asn) rs786202403
NM_003002.4(SDHD):c.305A>G (p.His102Arg)
NM_003002.4(SDHD):c.314+3A>C rs1555187084
NM_003002.4(SDHD):c.314+4A>G
NM_003002.4(SDHD):c.314+5G>A rs1566695035
NM_003002.4(SDHD):c.314+6T>C rs1555187085
NM_003002.4(SDHD):c.315-3T>C rs1555187565
NM_003002.4(SDHD):c.315-3del rs1566702297
NM_003002.4(SDHD):c.315-7_315-5delinsAAA rs1060503775
NM_003002.4(SDHD):c.317G>T (p.Gly106Val) rs1555187574
NM_003002.4(SDHD):c.319C>T (p.Leu107Phe) rs1209781530
NM_003002.4(SDHD):c.327A>G (p.Gln109=) rs1566702383
NM_003002.4(SDHD):c.328G>A (p.Val110Ile) rs1060503771
NM_003002.4(SDHD):c.331G>A (p.Val111Ile) rs201869798
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) rs199869408
NM_003002.4(SDHD):c.351G>T (p.Gly117=) rs1566702512
NM_003002.4(SDHD):c.356C>A (p.Ala119Asp)
NM_003002.4(SDHD):c.356C>T (p.Ala119Val) rs758784300
NM_003002.4(SDHD):c.35G>A (p.Gly12Asp) rs764384503
NM_003002.4(SDHD):c.374A>G (p.Lys125Arg)
NM_003002.4(SDHD):c.375G>T (p.Lys125Asn) rs878854595
NM_003002.4(SDHD):c.37G>A (p.Ala13Thr) rs940936212
NM_003002.4(SDHD):c.37G>T (p.Ala13Ser) rs940936212
NM_003002.4(SDHD):c.386T>C (p.Leu129Ser)
NM_003002.4(SDHD):c.388G>C (p.Ala130Pro) rs1312671864
NM_003002.4(SDHD):c.38C>T (p.Ala13Val)
NM_003002.4(SDHD):c.397G>A (p.Ala133Thr) rs1060503774
NM_003002.4(SDHD):c.397G>C (p.Ala133Pro) rs1060503774
NM_003002.4(SDHD):c.398C>A (p.Ala133Asp) rs755584530
NM_003002.4(SDHD):c.400T>G (p.Leu134Val) rs200851392
NM_003002.4(SDHD):c.409G>C (p.Ala137Pro) rs1555187611
NM_003002.4(SDHD):c.40C>T (p.Leu14=) rs1060503772
NM_003002.4(SDHD):c.413G>T (p.Gly138Val) rs1401695686
NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)
NM_003002.4(SDHD):c.421T>C (p.Tyr141His) rs1394514096
NM_003002.4(SDHD):c.428A>G (p.Asn143Ser) rs770909248
NM_003002.4(SDHD):c.433C>A (p.His145Asn) rs121908984
NM_003002.4(SDHD):c.436G>A (p.Asp146Asn)
NM_003002.4(SDHD):c.43G>C (p.Gly15Arg)
NM_003002.4(SDHD):c.453A>C (p.Lys151Asn) rs761953172
NM_003002.4(SDHD):c.455_463del (p.Ala152_Met155delinsVal)
NM_003002.4(SDHD):c.458T>C (p.Val153Ala) rs1555187644
NM_003002.4(SDHD):c.464T>A (p.Met155Lys) rs1060503776
NM_003002.4(SDHD):c.46G>C (p.Gly16Arg) rs1555186687
NM_003002.4(SDHD):c.46G>T (p.Gly16Cys) rs1555186687
NM_003002.4(SDHD):c.473_*3dup (p.Lys158_Ter160=) rs878854596
NM_003002.4(SDHD):c.478T>A (p.Ter160Arg) rs1555187655
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601
NM_003002.4(SDHD):c.4G>A (p.Ala2Thr)
NM_003002.4(SDHD):c.51A>C (p.Arg17=) rs199890548
NM_003002.4(SDHD):c.52+5G>C
NM_003002.4(SDHD):c.52+6G>A rs1416678757
NM_003002.4(SDHD):c.53-9_53-6del
NM_003002.4(SDHD):c.53C>T (p.Ala18Val) rs192332761
NM_003002.4(SDHD):c.5C>G (p.Ala2Gly) rs1440670464
NM_003002.4(SDHD):c.73G>T (p.Val25Leu) rs878854597
NM_003002.4(SDHD):c.7G>T (p.Val3Phe) rs1555186656
NM_003002.4(SDHD):c.80G>A (p.Arg27Lys) rs200671534
NM_003002.4(SDHD):c.82C>A (p.Pro28Thr) rs541477171
NM_003002.4(SDHD):c.82C>G (p.Pro28Ala) rs541477171
NM_003002.4(SDHD):c.85G>C (p.Ala29Pro) rs776930864
NM_003002.4(SDHD):c.86C>T (p.Ala29Val) rs1555186774
NM_003002.4(SDHD):c.89A>C (p.His30Pro)
NM_004168.3(SDHA):c.-115-?_*280+?dup2390
NM_004168.3(SDHA):c.-115-?_1432+?dup1547
NM_004168.4(SDHA):c.1000G>A (p.Ala334Thr) rs1401459296
NM_004168.4(SDHA):c.1001C>T (p.Ala334Val) rs765180271
NM_004168.4(SDHA):c.1004A>C (p.Lys335Thr) rs1560994846
NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr) rs1553999038
NM_004168.4(SDHA):c.1007A>C (p.Asp336Ala)
NM_004168.4(SDHA):c.1013C>T (p.Ala338Val) rs1560994866
NM_004168.4(SDHA):c.1016C>T (p.Ser339Phe) rs1553999043
NM_004168.4(SDHA):c.1019G>T (p.Arg340Ile)
NM_004168.4(SDHA):c.1022A>C (p.Asp341Ala)
NM_004168.4(SDHA):c.1034G>A (p.Arg345Gln) rs1483236652
NM_004168.4(SDHA):c.1037_1038inv (p.Ser346Trp)
NM_004168.4(SDHA):c.1040T>C (p.Met347Thr) rs1553999054
NM_004168.4(SDHA):c.1041G>A (p.Met347Ile) rs1560994934
NM_004168.4(SDHA):c.1042A>G (p.Thr348Ala) rs371484111
NM_004168.4(SDHA):c.1042A>T (p.Thr348Ser) rs371484111
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384
NM_004168.4(SDHA):c.1064+4C>A rs768276870
NM_004168.4(SDHA):c.1064+4C>T rs768276870
NM_004168.4(SDHA):c.1064+5G>A rs200021115
NM_004168.4(SDHA):c.1064+5G>C rs200021115
NM_004168.4(SDHA):c.106A>G (p.Thr36Ala) rs750500173
NM_004168.4(SDHA):c.106A>T (p.Thr36Ser)
NM_004168.4(SDHA):c.1070G>A (p.Cys357Tyr) rs1560996433
NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys) rs766779919
NM_004168.4(SDHA):c.1087C>G (p.His363Asp) rs1553999417
NM_004168.4(SDHA):c.1090G>A (p.Val364Ile) rs372738835
NM_004168.4(SDHA):c.1090G>C (p.Val364Leu) rs372738835
NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu)
NM_004168.4(SDHA):c.109G>A (p.Val37Ile) rs758426529
NM_004168.4(SDHA):c.1107C>A (p.His369Gln) rs1268877544
NM_004168.4(SDHA):c.1108C>A (p.His370Asn) rs1060503704
NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg) rs141493530
NM_004168.4(SDHA):c.1122G>T (p.Glu374Asp)
NM_004168.4(SDHA):c.1127T>C (p.Leu376Pro)
NM_004168.4(SDHA):c.112G>C (p.Asp38His) rs1553997174
NM_004168.4(SDHA):c.1130C>A (p.Ala377Asp) rs1553999443
NM_004168.4(SDHA):c.1132A>G (p.Thr378Ala)
NM_004168.4(SDHA):c.1133C>T (p.Thr378Met) rs777420907
NM_004168.4(SDHA):c.1135C>T (p.Arg379Cys) rs749309213
NM_004168.4(SDHA):c.1136G>A (p.Arg379His) rs770719847
NM_004168.4(SDHA):c.1144G>A (p.Gly382Ser) rs1272640628
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala) rs776888362
NM_004168.4(SDHA):c.1156A>G (p.Thr386Ala) rs1553999461
NM_004168.4(SDHA):c.1157C>T (p.Thr386Ile) rs773218958
NM_004168.4(SDHA):c.1171G>A (p.Ala391Thr) rs376597185
NM_004168.4(SDHA):c.1171G>T (p.Ala391Ser) rs376597185
NM_004168.4(SDHA):c.1176C>T (p.Gly392=) rs1041950
NM_004168.4(SDHA):c.1177G>T (p.Val393Leu) rs372989971
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile) rs748683825
NM_004168.4(SDHA):c.1183G>T (p.Val395Phe) rs748683825
NM_004168.4(SDHA):c.1187C>T (p.Thr396Met) rs757251714
NM_004168.4(SDHA):c.1191G>C (p.Lys397Asn)
NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu) rs878854625
NM_004168.4(SDHA):c.1214C>A (p.Thr405Asn) rs1553999491
NM_004168.4(SDHA):c.1216G>A (p.Val406Met) rs1258201485
NM_004168.4(SDHA):c.1225A>C (p.Asn409His) rs1404377989
NM_004168.4(SDHA):c.1229T>C (p.Met410Thr) rs1553999505
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser) rs768055345
NM_004168.4(SDHA):c.1234G>T (p.Gly412Cys) rs768055345
NM_004168.4(SDHA):c.1246A>G (p.Asn416Asp)
NM_004168.4(SDHA):c.1250A>G (p.Tyr417Cys) rs528628545
NM_004168.4(SDHA):c.125G>A (p.Arg42Lys) rs747557411
NM_004168.4(SDHA):c.1260+4A>G rs1060503702
NM_004168.4(SDHA):c.1261-3C>T rs1553999705
NM_004168.4(SDHA):c.1261-5delinsGAAA rs1553999701
NM_004168.4(SDHA):c.1261-9T>A rs1553999698
NM_004168.4(SDHA):c.1272C>G (p.His424Gln) rs754805626
NM_004168.4(SDHA):c.1273G>A (p.Val425Met) rs201822097
NM_004168.4(SDHA):c.1273G>T (p.Val425Leu) rs201822097
NM_004168.4(SDHA):c.1277A>G (p.Asn426Ser) rs1060503725
NM_004168.4(SDHA):c.127G>A (p.Ala43Thr)
NM_004168.4(SDHA):c.1281C>T (p.Gly427=) rs561918468
NM_004168.4(SDHA):c.1291A>G (p.Ile431Val)
NM_004168.4(SDHA):c.1292T>C (p.Ile431Thr) rs776188923
NM_004168.4(SDHA):c.1297C>T (p.Pro433Ser) rs1560998056
NM_004168.4(SDHA):c.1298C>T (p.Pro433Leu) rs747488969
NM_004168.4(SDHA):c.1300G>A (p.Gly434Ser) rs529198317
NM_004168.4(SDHA):c.1309G>A (p.Ala437Thr) rs1553999731
NM_004168.4(SDHA):c.1313G>T (p.Cys438Phe) rs1424809160
NM_004168.4(SDHA):c.1324G>A (p.Ala442Thr) rs754893758
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu) rs1296066077
NM_004168.4(SDHA):c.1335G>A (p.Ser445=)
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646
NM_004168.4(SDHA):c.1340A>G (p.His447Arg) rs779151375
NM_004168.4(SDHA):c.1346C>G (p.Ala449Gly) rs201139275
NM_004168.4(SDHA):c.1349A>G (p.Asn450Ser)
NM_004168.4(SDHA):c.134C>T (p.Ala45Val) rs1553997190
NM_004168.4(SDHA):c.1352G>A (p.Arg451His)
NM_004168.4(SDHA):c.1354C>T (p.Leu452Phe) rs1064796477
NM_004168.4(SDHA):c.1357G>A (p.Gly453Arg) rs770028533
NM_004168.4(SDHA):c.1358G>A (p.Gly453Glu)
NM_004168.4(SDHA):c.1360G>T (p.Ala454Ser)
NM_004168.4(SDHA):c.1361C>A (p.Ala454Glu) rs1553999766
NM_004168.4(SDHA):c.1382T>C (p.Val461Ala) rs767452676
NM_004168.4(SDHA):c.1393C>T (p.Arg465Trp) rs752461029
NM_004168.4(SDHA):c.1396G>T (p.Ala466Ser) rs111387770
NM_004168.4(SDHA):c.13C>T (p.Arg5Trp) rs770866830
NM_004168.4(SDHA):c.1409G>A (p.Ser470Asn)
NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys) rs143798161
NM_004168.4(SDHA):c.1418A>C (p.Glu473Ala) rs1560998495
NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg) rs781747137
NM_004168.4(SDHA):c.1424G>C (p.Cys475Ser) rs748567636
NM_004168.4(SDHA):c.1428G>T (p.Arg476Ser) rs377415114
NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser) rs770506764
NM_004168.4(SDHA):c.1430C>A (p.Pro477His) rs146990772
NM_004168.4(SDHA):c.1430C>T (p.Pro477Leu)
NM_004168.4(SDHA):c.1432+4A>G rs1553999798
NM_004168.4(SDHA):c.1450A>G (p.Ile484Val) rs1224049828
NM_004168.4(SDHA):c.1456C>A (p.Pro486Thr) rs1060503706
NM_004168.4(SDHA):c.1456C>T (p.Pro486Ser) rs1060503706
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr) rs369100772
NM_004168.4(SDHA):c.1472A>C (p.Glu491Ala) rs754324916
NM_004168.4(SDHA):c.1472A>G (p.Glu491Gly)
NM_004168.4(SDHA):c.1477G>T (p.Val493Phe)
NM_004168.4(SDHA):c.1480A>G (p.Met494Val)
NM_004168.4(SDHA):c.1481T>C (p.Met494Thr) rs1561001630
NM_004168.4(SDHA):c.148T>G (p.Ser50Ala) rs1560985310
NM_004168.4(SDHA):c.1491C>G (p.Asp497Glu)
NM_004168.4(SDHA):c.1493A>G (p.Lys498Arg) rs745592653
NM_004168.4(SDHA):c.14G>A (p.Arg5Gln)
NM_004168.4(SDHA):c.150+2dup rs1560985349
NM_004168.4(SDHA):c.150+5G>T
NM_004168.4(SDHA):c.150+6T>G rs1060503699
NM_004168.4(SDHA):c.1502T>G (p.Phe501Cys)
NM_004168.4(SDHA):c.150C>T (p.Ser50=) rs140264486
NM_004168.4(SDHA):c.1510G>A (p.Gly504Arg)
NM_004168.4(SDHA):c.1514G>A (p.Ser505Asn) rs1060503722
NM_004168.4(SDHA):c.1516A>G (p.Ile506Val)
NM_004168.4(SDHA):c.1518A>G (p.Ile506Met)
NM_004168.4(SDHA):c.1522A>G (p.Thr508Ala) rs1060503718
NM_004168.4(SDHA):c.1522A>T (p.Thr508Ser) rs1060503718
NM_004168.4(SDHA):c.1525T>C (p.Ser509Pro)
NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu) rs397514541
NM_004168.4(SDHA):c.1532T>C (p.Leu511Pro) rs375194444
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln) rs192818312
NM_004168.4(SDHA):c.1541G>C (p.Ser514Thr) rs587781729
NM_004168.4(SDHA):c.1546C>G (p.Gln516Glu) rs1251348764
NM_004168.4(SDHA):c.1547A>G (p.Gln516Arg)
NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu) rs786205210
NM_004168.4(SDHA):c.154T>A (p.Ser52Thr) rs150326789
NM_004168.4(SDHA):c.1551+4A>G rs928294715
NM_004168.4(SDHA):c.1551+6A>G rs369507726
NM_004168.4(SDHA):c.1552-3C>T rs1222778933
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe) rs377470390
NM_004168.4(SDHA):c.1567G>T (p.Ala523Ser) rs1554001820
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val) rs137852767
NM_004168.4(SDHA):c.1573G>A (p.Val525Met) rs979815942
NM_004168.4(SDHA):c.1579C>T (p.Arg527Cys) rs138723511
NM_004168.4(SDHA):c.1580G>A (p.Arg527His) rs766352407
NM_004168.4(SDHA):c.1585G>C (p.Gly529Arg) rs370291114
NM_004168.4(SDHA):c.1590C>T (p.Ser530=) rs1060503701
NM_004168.4(SDHA):c.1591G>A (p.Val531Met) rs371056571
NM_004168.4(SDHA):c.1597C>G (p.Gln533Glu) rs149367009
NM_004168.4(SDHA):c.1603G>T (p.Gly535Cys) rs777622021
NM_004168.4(SDHA):c.1616T>G (p.Ile539Ser) rs749219128
NM_004168.4(SDHA):c.1627T>C (p.Tyr543His) rs1339009840
NM_004168.4(SDHA):c.1640A>G (p.Lys547Arg) rs1561010407
NM_004168.4(SDHA):c.1646T>C (p.Leu549Pro)
NM_004168.4(SDHA):c.1648A>C (p.Lys550Gln) rs1400219619
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met) rs181238392
NM_004168.4(SDHA):c.1657G>A (p.Asp553Asn) rs769882609
NM_004168.4(SDHA):c.1658A>C (p.Asp553Ala) rs1060503723
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219
NM_004168.4(SDHA):c.1662G>T (p.Arg554=)
NM_004168.4(SDHA):c.1663+3G>C
NM_004168.4(SDHA):c.1663G>C (p.Gly555Arg) rs1392860800
NM_004168.4(SDHA):c.1666A>G (p.Met556Val) rs980397872
NM_004168.4(SDHA):c.1674G>T (p.Trp558Cys) rs1561010726
NM_004168.4(SDHA):c.1679C>T (p.Thr560Met) rs775350508
NM_004168.4(SDHA):c.1684C>A (p.Leu562Met)
NM_004168.4(SDHA):c.1694C>A (p.Thr565Asn)
NM_004168.4(SDHA):c.1696C>G (p.Leu566Val) rs142936520
NM_004168.4(SDHA):c.1697T>G (p.Leu566Arg)
NM_004168.4(SDHA):c.169G>T (p.Val57Leu) rs1060503724
NM_004168.4(SDHA):c.1702C>G (p.Leu568Val) rs1554001912
NM_004168.4(SDHA):c.1708A>T (p.Asn570Tyr) rs1561010778
NM_004168.4(SDHA):c.1715T>G (p.Met572Arg) rs1554001925
NM_004168.4(SDHA):c.1717C>G (p.Leu573Val) rs1445945083
NM_004168.4(SDHA):c.1723G>A (p.Ala575Thr) rs1301370839
NM_004168.4(SDHA):c.1724C>T (p.Ala575Val) rs750327309
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro) rs1318046349
NM_004168.4(SDHA):c.1736T>C (p.Ile579Thr)
NM_004168.4(SDHA):c.1738T>C (p.Tyr580His) rs1042056
NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg)
NM_004168.4(SDHA):c.1750G>A (p.Ala584Thr) rs878854629
NM_004168.4(SDHA):c.1751C>T (p.Ala584Val) rs201068049
NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln) rs752360961
NM_004168.4(SDHA):c.1759G>A (p.Glu587Lys) rs1554001954
NM_004168.4(SDHA):c.1763C>T (p.Ser588Leu)
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln) rs763766162
NM_004168.4(SDHA):c.1769_1770GC[4] (p.His592fs) rs1561010948
NM_004168.4(SDHA):c.1769del (p.Gly590fs) rs1554001958
NM_004168.4(SDHA):c.1770C>T (p.Gly590=) rs142457602
NM_004168.4(SDHA):c.1771G>A (p.Ala591Thr) rs1042170
NM_004168.4(SDHA):c.1772C>T (p.Ala591Val) rs367621815
NM_004168.4(SDHA):c.1774C>A (p.His592Asn)
NM_004168.4(SDHA):c.1774C>T (p.His592Tyr)
NM_004168.4(SDHA):c.1775A>G (p.His592Arg) rs1554001966
NM_004168.4(SDHA):c.1776T>G (p.His592Gln)
NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys)
NM_004168.4(SDHA):c.1786G>C (p.Asp596His) rs371304688
NM_004168.4(SDHA):c.1787A>G (p.Asp596Gly) rs1126557
NM_004168.4(SDHA):c.1789T>C (p.Tyr597His) rs1060503721
NM_004168.4(SDHA):c.1793A>G (p.Lys598Arg)
NM_004168.4(SDHA):c.1794+3G>A rs375883981
NM_004168.4(SDHA):c.1794+3G>C rs375883981
NM_004168.4(SDHA):c.1794G>A (p.Lys598=) rs1554001975
NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp) rs878854630
NM_004168.4(SDHA):c.1813G>A (p.Asp605Asn) rs771593214
NM_004168.4(SDHA):c.1813G>C (p.Asp605His) rs771593214
NM_004168.4(SDHA):c.1828A>G (p.Ile610Val) rs1554002446
NM_004168.4(SDHA):c.1830C>G (p.Ile610Met)
NM_004168.4(SDHA):c.1835G>A (p.Gly612Glu) rs1057523336
NM_004168.4(SDHA):c.1849C>T (p.Pro617Ser) rs1199988395
NM_004168.4(SDHA):c.1861C>G (p.His621Asp)
NM_004168.4(SDHA):c.1863C>G (p.His621Gln) rs1554002478
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter)
NM_004168.4(SDHA):c.1871A>G (p.Lys624Arg)
NM_004168.4(SDHA):c.1873C>T (p.His625Tyr) rs1554002483
NM_004168.4(SDHA):c.1880dup (p.Ser628fs)
NM_004168.4(SDHA):c.1885T>A (p.Tyr629Asn)
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs) rs750865703
NM_004168.4(SDHA):c.1886A>C (p.Tyr629Ser) rs6960
NM_004168.4(SDHA):c.1889T>C (p.Val630Ala) rs1392791825
NM_004168.4(SDHA):c.188A>G (p.Asp63Gly) rs1553997327
NM_004168.4(SDHA):c.188A>T (p.Asp63Val) rs1553997327
NM_004168.4(SDHA):c.1894G>A (p.Val632Ile) rs369639811
NM_004168.4(SDHA):c.1894G>T (p.Val632Phe) rs369639811
NM_004168.4(SDHA):c.1895T>C (p.Val632Ala)
NM_004168.4(SDHA):c.18C>T (p.Gly6=)
NM_004168.4(SDHA):c.1900A>G (p.Thr634Ala) rs1017441235
NM_004168.4(SDHA):c.1908+6T>C rs1359050908
NM_004168.4(SDHA):c.1909-2A>G rs747939816
NM_004168.4(SDHA):c.1909G>A (p.Val637Ile)
NM_004168.4(SDHA):c.1913C>T (p.Thr638Ile)
NM_004168.4(SDHA):c.1913del (p.Thr638fs) rs1554002857
NM_004168.4(SDHA):c.1915C>G (p.Leu639Val) rs1126697
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly) rs372480044
NM_004168.4(SDHA):c.1927C>T (p.Pro643Ser)
NM_004168.4(SDHA):c.1928C>G (p.Pro643Arg) rs1060503717
NM_004168.4(SDHA):c.1930G>A (p.Val644Met) rs3211483
NM_004168.4(SDHA):c.1934T>C (p.Ile645Thr) rs1282623859
NM_004168.4(SDHA):c.1935C>G (p.Ile645Met)
NM_004168.4(SDHA):c.1936G>A (p.Asp646Asn)
NM_004168.4(SDHA):c.1942A>C (p.Thr648Pro) rs758054627
NM_004168.4(SDHA):c.1943C>G (p.Thr648Ser) rs1420345359
NM_004168.4(SDHA):c.1949A>G (p.Asn650Ser)
NM_004168.4(SDHA):c.1951G>A (p.Glu651Lys) rs375396913
NM_004168.4(SDHA):c.1951G>C (p.Glu651Gln) rs375396913
NM_004168.4(SDHA):c.1951del (p.Glu651fs) rs1561016316
NM_004168.4(SDHA):c.1955C>T (p.Ala652Val) rs1554002888
NM_004168.4(SDHA):c.1960T>G (p.Cys654Gly) rs60587941
NM_004168.4(SDHA):c.1961G>C (p.Cys654Ser) rs1554002895
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu) rs377632619
NM_004168.4(SDHA):c.1978G>A (p.Ala660Thr) rs1554002911
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly) rs191412461
NM_004168.4(SDHA):c.1979C>T (p.Ala660Val)
NM_004168.4(SDHA):c.1988C>T (p.Ser663Phe) rs1060503719
NM_004168.4(SDHA):c.204C>T (p.Gly68=) rs1055082816
NM_004168.4(SDHA):c.205G>A (p.Ala69Thr) rs370481102
NM_004168.4(SDHA):c.23C>G (p.Ser8Trp) rs878854631
NM_004168.4(SDHA):c.242C>T (p.Ser81Phe) rs1553997357
NM_004168.4(SDHA):c.25C>G (p.Arg9Gly) rs776218604
NM_004168.4(SDHA):c.260C>T (p.Thr87Ile) rs756543943
NM_004168.4(SDHA):c.26G>A (p.Arg9Gln)
NM_004168.4(SDHA):c.284C>G (p.Pro95Arg) rs1553997377
NM_004168.4(SDHA):c.287C>T (p.Thr96Ile) rs377620054
NM_004168.4(SDHA):c.290G>C (p.Arg97Thr) rs371274523
NM_004168.4(SDHA):c.293C>T (p.Ser98Leu)
NM_004168.4(SDHA):c.296A>G (p.His99Arg)
NM_004168.4(SDHA):c.313-10G>A
NM_004168.4(SDHA):c.313-3C>T rs1553997584
NM_004168.4(SDHA):c.313-5T>G rs1060503705
NM_004168.4(SDHA):c.313-7T>C rs201972549
NM_004168.4(SDHA):c.313-8G>A rs1060503710
NM_004168.4(SDHA):c.316G>C (p.Gly106Arg)
NM_004168.4(SDHA):c.319A>G (p.Ile107Val) rs1060503720
NM_004168.4(SDHA):c.323A>G (p.Asn108Ser) rs758086385
NM_004168.4(SDHA):c.334G>A (p.Gly112Arg) rs751114575
NM_004168.4(SDHA):c.340A>G (p.Met114Val) rs933414586
NM_004168.4(SDHA):c.350A>G (p.Asp117Gly)
NM_004168.4(SDHA):c.365A>G (p.His122Arg)
NM_004168.4(SDHA):c.371A>G (p.Tyr124Cys) rs935241830
NM_004168.4(SDHA):c.373G>A (p.Asp125Asn) rs780654623
NM_004168.4(SDHA):c.379G>A (p.Val127Met) rs777600956
NM_004168.4(SDHA):c.389C>G (p.Ser130Cys) rs1553997625
NM_004168.4(SDHA):c.391G>A (p.Asp131Asn) rs1324014370
NM_004168.4(SDHA):c.411T>A (p.Asp137Glu) rs1444399160
NM_004168.4(SDHA):c.413C>T (p.Ala138Val) rs1342456775
NM_004168.4(SDHA):c.419A>G (p.His140Arg) rs759266253
NM_004168.4(SDHA):c.421T>C (p.Tyr141His)
NM_004168.4(SDHA):c.424A>G (p.Met142Val) rs776848209
NM_004168.4(SDHA):c.428C>T (p.Thr143Met) rs200675907
NM_004168.4(SDHA):c.429G>A (p.Thr143=) rs906281170
NM_004168.4(SDHA):c.437C>T (p.Ala146Val) rs1060503714
NM_004168.4(SDHA):c.440C>A (p.Pro147His)
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr) rs375576259
NM_004168.4(SDHA):c.445G>A (p.Ala149Thr) rs575617625
NM_004168.4(SDHA):c.446C>T (p.Ala149Val) rs1060503709
NM_004168.4(SDHA):c.448G>A (p.Val150Met) rs542980860
NM_004168.4(SDHA):c.44G>C (p.Arg15Pro) rs1060503707
NM_004168.4(SDHA):c.451G>A (p.Val151Ile) rs143148642
NM_004168.4(SDHA):c.453C>A (p.Val151=) rs138917116
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys) rs778737664
NM_004168.4(SDHA):c.456+6G>T rs371735891
NM_004168.4(SDHA):c.456+9C>T rs200565489
NM_004168.4(SDHA):c.460G>A (p.Glu154Lys) rs1560987595
NM_004168.4(SDHA):c.461A>G (p.Glu154Gly) rs777873911
NM_004168.4(SDHA):c.464A>G (p.Asn155Ser) rs749824479
NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp) rs569384870
NM_004168.4(SDHA):c.471C>T (p.Gly157=) rs1553997722
NM_004168.4(SDHA):c.476C>T (p.Pro159Leu) rs759827541
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu) rs1060503711
NM_004168.4(SDHA):c.485G>C (p.Arg162Thr)
NM_004168.4(SDHA):c.496G>A (p.Gly166Arg) rs1060503712
NM_004168.4(SDHA):c.498G>T (p.Gly166=)
NM_004168.4(SDHA):c.499A>C (p.Lys167Gln)
NM_004168.4(SDHA):c.503T>C (p.Ile168Thr) rs1553997748
NM_004168.4(SDHA):c.505T>C (p.Tyr169His) rs1553997754
NM_004168.4(SDHA):c.510G>C (p.Gln170His)
NM_004168.4(SDHA):c.512G>A (p.Arg171His) rs587782076
NM_004168.4(SDHA):c.523G>A (p.Gly175Arg)
NM_004168.4(SDHA):c.530G>C (p.Ser177Thr) rs1553997783
NM_004168.4(SDHA):c.559C>T (p.His187Tyr)
NM_004168.4(SDHA):c.55G>A (p.Ala19Thr) rs1560980986
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp) rs553257776
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln) rs139881415
NM_004168.4(SDHA):c.584G>A (p.Arg195Gln) rs762956849
NM_004168.4(SDHA):c.587C>T (p.Thr196Ile) rs1560987863
NM_004168.4(SDHA):c.589G>C (p.Gly197Arg) rs1560987881
NM_004168.4(SDHA):c.590G>A (p.Gly197Asp)
NM_004168.4(SDHA):c.595T>A (p.Ser199Thr)
NM_004168.4(SDHA):c.596C>T (p.Ser199Leu) rs878854633
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu) rs780064103
NM_004168.4(SDHA):c.607A>G (p.Thr203Ala) rs373340696
NM_004168.4(SDHA):c.613T>C (p.Tyr205His) rs61754481
NM_004168.4(SDHA):c.61G>A (p.Ala21Thr) rs1553996375
NM_004168.4(SDHA):c.629G>A (p.Arg210Gln)
NM_004168.4(SDHA):c.632A>G (p.Tyr211Cys)
NM_004168.4(SDHA):c.638C>A (p.Thr213Asn) rs766421069
NM_004168.4(SDHA):c.64-3C>T rs772607568
NM_004168.4(SDHA):c.640A>G (p.Ser214Gly)
NM_004168.4(SDHA):c.644A>G (p.Tyr215Cys)
NM_004168.4(SDHA):c.664T>G (p.Leu222Val) rs1553998191
NM_004168.4(SDHA):c.666G>T (p.Leu222Phe) rs778256616
NM_004168.4(SDHA):c.667G>T (p.Asp223Tyr)
NM_004168.4(SDHA):c.676A>T (p.Met226Leu)
NM_004168.4(SDHA):c.678G>A (p.Met226Ile)
NM_004168.4(SDHA):c.685G>A (p.Gly229Arg) rs41495051
NM_004168.4(SDHA):c.688G>C (p.Glu230Gln) rs1436777353
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys) rs878854635
NM_004168.4(SDHA):c.695G>A (p.Arg232His) rs1060503708
NM_004168.4(SDHA):c.698G>T (p.Gly233Val) rs878854636
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr) rs144513891
NM_004168.4(SDHA):c.706G>A (p.Ala236Thr) rs774160524
NM_004168.4(SDHA):c.707C>T (p.Ala236Val) rs1060503703
NM_004168.4(SDHA):c.70A>G (p.Thr24Ala)
NM_004168.4(SDHA):c.713G>T (p.Cys238Phe) rs1168458733
NM_004168.4(SDHA):c.715A>G (p.Ile239Val) rs760106352
NM_004168.4(SDHA):c.720_722del (p.Glu240del) rs1560990000
NM_004168.4(SDHA):c.724G>A (p.Gly242Arg) rs764534044
NM_004168.4(SDHA):c.728C>T (p.Ser243Phe) rs756966025
NM_004168.4(SDHA):c.730A>G (p.Ile244Val)
NM_004168.4(SDHA):c.733C>G (p.His245Asp) rs1060503716
NM_004168.4(SDHA):c.739A>G (p.Ile247Val) rs571292356
NM_004168.4(SDHA):c.749A>G (p.Lys250Arg) rs1060503700
NM_004168.4(SDHA):c.752A>C (p.Asn251Thr) rs1318566276
NM_004168.4(SDHA):c.753C>G (p.Asn251Lys) rs1126411
NM_004168.4(SDHA):c.757G>A (p.Val253Ile) rs1126412
NM_004168.4(SDHA):c.766A>G (p.Thr256Ala) rs1409070000
NM_004168.4(SDHA):c.776A>G (p.Tyr259Cys)
NM_004168.4(SDHA):c.778G>A (p.Gly260Arg) rs940845256
NM_004168.4(SDHA):c.781C>T (p.Arg261Cys) rs143484394
NM_004168.4(SDHA):c.785C>T (p.Thr262Ile)
NM_004168.4(SDHA):c.792C>G (p.Phe264Leu) rs1237513803
NM_004168.4(SDHA):c.796T>C (p.Cys266Arg)
NM_004168.4(SDHA):c.800C>T (p.Thr267Met) rs777167108
NM_004168.4(SDHA):c.805G>A (p.Ala269Thr)
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser) rs765611464
NM_004168.4(SDHA):c.812C>T (p.Thr271Ile)
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile) rs587781720
NM_004168.4(SDHA):c.823G>A (p.Asp275Asn) rs1553998629
NM_004168.4(SDHA):c.826G>A (p.Gly276Ser) rs751008647
NM_004168.4(SDHA):c.828C>T (p.Gly276=) rs754910183
NM_004168.4(SDHA):c.830C>A (p.Thr277Lys) rs367721665
NM_004168.4(SDHA):c.830C>T (p.Thr277Met) rs367721665
NM_004168.4(SDHA):c.835A>G (p.Met279Val) rs755913710
NM_004168.4(SDHA):c.837G>T (p.Met279Ile)
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala) rs772325115
NM_004168.4(SDHA):c.844A>G (p.Arg282Gly) rs1553998658
NM_004168.4(SDHA):c.853C>T (p.Leu285Phe) rs747045191
NM_004168.4(SDHA):c.856C>T (p.Pro286Ser)
NM_004168.4(SDHA):c.861C>G (p.Cys287Trp)
NM_004168.4(SDHA):c.86G>A (p.Gly29Glu) rs1436200566
NM_004168.4(SDHA):c.871G>A (p.Glu291Lys)
NM_004168.4(SDHA):c.872A>T (p.Glu291Val)
NM_004168.4(SDHA):c.897C>T (p.Gly299=)
NM_004168.4(SDHA):c.898A>C (p.Ile300Leu)
NM_004168.4(SDHA):c.899T>C (p.Ile300Thr) rs878854637
NM_004168.4(SDHA):c.89C>T (p.Thr30Ile) rs1560985157
NM_004168.4(SDHA):c.8G>C (p.Gly3Ala) rs1398198098
NM_004168.4(SDHA):c.901T>C (p.Tyr301His) rs1060503713
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys)
NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr) rs878854638
NM_004168.4(SDHA):c.914G>T (p.Cys305Phe) rs878854638
NM_004168.4(SDHA):c.919A>G (p.Ile307Val) rs200632016
NM_004168.4(SDHA):c.923C>T (p.Thr308Met) rs1457666982
NM_004168.4(SDHA):c.924G>A (p.Thr308=) rs1355760590
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln) rs752532780
NM_004168.4(SDHA):c.935G>A (p.Arg312His)
NM_004168.4(SDHA):c.940G>A (p.Glu314Lys) rs1337704280
NM_004168.4(SDHA):c.944G>A (p.Gly315Glu)
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu) rs377509915
NM_004168.4(SDHA):c.955A>G (p.Ile319Val) rs377509915
NM_004168.4(SDHA):c.965A>C (p.Gln322Pro) rs1553998989
NM_004168.4(SDHA):c.967G>A (p.Gly323Ser) rs1553998991
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys) rs147014102
NM_004168.4(SDHA):c.985C>G (p.Arg329Gly) rs771328239
NM_004168.4(SDHA):c.986G>A (p.Arg329Gln)
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr) rs200526913
NM_004168.4(SDHA):c.992C>G (p.Ala331Gly)
NM_004168.4(SDHA):c.994C>G (p.Pro332Ala) rs373509391
NM_004168.4(SDHA):c.994C>T (p.Pro332Ser) rs373509391
NM_004168.4(SDHA):c.996_997inv (p.Val333Ile)
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr) rs1057517540
NM_004168.4(SDHA):c.997G>C (p.Val333Leu) rs1062468
NM_013335.4(GMPPA):c.108G>C (p.Met36Ile)
NM_013335.4(GMPPA):c.592T>C (p.Phe198Leu) rs773715630
NM_017841.2(SDHAF2):c.106A>G (p.Arg36Gly) rs1413272315
NM_017841.2(SDHAF2):c.109G>T (p.Gly37Cys) rs868016844
NM_017841.2(SDHAF2):c.11C>G (p.Ser4Cys)
NM_017841.2(SDHAF2):c.130_132del (p.Gln44del)
NM_017841.2(SDHAF2):c.133A>G (p.Lys45Glu) rs368945911
NM_017841.2(SDHAF2):c.136G>A (p.Asp46Asn)
NM_017841.2(SDHAF2):c.138C>G (p.Asp46Glu) rs969049910
NM_017841.2(SDHAF2):c.139A>G (p.Met47Val) rs111402137
NM_017841.2(SDHAF2):c.13A>G (p.Thr5Ala) rs775763888
NM_017841.2(SDHAF2):c.145_147del (p.Glu49del)
NM_017841.2(SDHAF2):c.157C>T (p.Pro53Ser) rs1060503390
NM_017841.2(SDHAF2):c.194C>T (p.Thr65Ile)
NM_017841.2(SDHAF2):c.205C>T (p.Arg69Cys) rs532255760
NM_017841.2(SDHAF2):c.206G>A (p.Arg69His) rs753474292
NM_017841.2(SDHAF2):c.218A>C (p.Glu73Ala) rs1554984643
NM_017841.2(SDHAF2):c.221G>A (p.Ser74Asn) rs1060503389
NM_017841.2(SDHAF2):c.239T>C (p.Leu80Ser) rs376560419
NM_017841.2(SDHAF2):c.248G>T (p.Cys83Phe) rs982336783
NM_017841.2(SDHAF2):c.253C>A (p.Leu85Ile)
NM_017841.2(SDHAF2):c.25A>G (p.Thr9Ala) rs1554983610
NM_017841.2(SDHAF2):c.29C>T (p.Ser10Leu)
NM_017841.2(SDHAF2):c.2T>C (p.Met1Thr) rs1060503392
NM_017841.2(SDHAF2):c.313T>A (p.Tyr105Asn) rs1485358364
NM_017841.2(SDHAF2):c.314A>G (p.Tyr105Cys)
NM_017841.2(SDHAF2):c.320G>A (p.Arg107His) rs535627239
NM_017841.2(SDHAF2):c.327T>G (p.Ile109Met)
NM_017841.2(SDHAF2):c.330C>A (p.Asn110Lys) rs779335034
NM_017841.2(SDHAF2):c.331G>A (p.Glu111Lys) rs145616631
NM_017841.2(SDHAF2):c.341A>G (p.Asn114Ser)
NM_017841.2(SDHAF2):c.347G>A (p.Trp116Ter) rs876658350
NM_017841.2(SDHAF2):c.348G>C (p.Trp116Cys)
NM_017841.2(SDHAF2):c.350A>T (p.Asp117Val)
NM_017841.2(SDHAF2):c.355dup (p.Tyr119fs) rs1456129845
NM_017841.2(SDHAF2):c.35T>C (p.Leu12Pro)
NM_017841.2(SDHAF2):c.36+5G>A
NM_017841.2(SDHAF2):c.370+4C>G
NM_017841.2(SDHAF2):c.370+6G>A rs1565128722
NM_017841.2(SDHAF2):c.371-2A>G rs375280597
NM_017841.2(SDHAF2):c.37A>T (p.Met13Leu) rs1361460244
NM_017841.2(SDHAF2):c.383C>T (p.Ala128Val) rs1554985400
NM_017841.2(SDHAF2):c.385C>T (p.Pro129Ser) rs1060503391
NM_017841.2(SDHAF2):c.391A>T (p.Ile131Leu) rs773580529
NM_017841.2(SDHAF2):c.410T>A (p.Met137Lys)
NM_017841.2(SDHAF2):c.415C>A (p.Leu139Met) rs1565130851
NM_017841.2(SDHAF2):c.427T>A (p.Phe143Ile)
NM_017841.2(SDHAF2):c.430G>A (p.Ala144Thr) rs572576746
NM_017841.2(SDHAF2):c.43G>T (p.Ala15Ser) rs1002894711
NM_017841.2(SDHAF2):c.446_447del (p.Lys149fs) rs772219112
NM_017841.2(SDHAF2):c.449A>G (p.Glu150Gly)
NM_017841.2(SDHAF2):c.458T>C (p.Leu153Pro) rs753711279
NM_017841.2(SDHAF2):c.460C>T (p.Arg154Cys) rs778585796
NM_017841.2(SDHAF2):c.464C>T (p.Ala155Val) rs1245083102
NM_017841.2(SDHAF2):c.476A>C (p.Glu159Ala) rs140920079
NM_017841.2(SDHAF2):c.490A>G (p.Lys164Glu) rs150187184
NM_017841.2(SDHAF2):c.496C>T (p.Arg166Cys) rs968303021
NM_017841.2(SDHAF2):c.497G>A (p.Arg166His) rs768048172
NM_017841.2(SDHAF2):c.52A>G (p.Arg18Gly) rs200911550
NM_017841.2(SDHAF2):c.60C>A (p.Ser20Arg) rs1565128479
NM_017841.2(SDHAF2):c.7G>T (p.Val3Leu) rs149277592
NM_017841.2(SDHAF2):c.80G>A (p.Ser27Asn) rs759472787
NM_017841.2(SDHAF2):c.98G>A (p.Arg33His) rs777442412
NM_017841.2(SDHAF2):c.98G>T (p.Arg33Leu)
NM_017849.3(TMEM127):c.100G>A (p.Ala34Thr) rs1553437740
NM_017849.3(TMEM127):c.101C>A (p.Ala34Asp) rs1451389209
NM_017849.3(TMEM127):c.10C>T (p.Pro4Ser) rs1024081498
NM_017849.3(TMEM127):c.111C>T (p.Gly37=)
NM_017849.3(TMEM127):c.121A>G (p.Ile41Val) rs760633411
NM_017849.3(TMEM127):c.123C>G (p.Ile41Met)
NM_017849.3(TMEM127):c.126G>A (p.Thr42=)
NM_017849.3(TMEM127):c.133T>A (p.Cys45Ser) rs995979769
NM_017849.3(TMEM127):c.136A>G (p.Thr46Ala) rs144659242
NM_017849.3(TMEM127):c.143T>C (p.Leu48Pro) rs1219876266
NM_017849.3(TMEM127):c.145G>A (p.Ala49Thr) rs577020327
NM_017849.3(TMEM127):c.154G>A (p.Ala52Thr)
NM_017849.3(TMEM127):c.154G>T (p.Ala52Ser)
NM_017849.3(TMEM127):c.158G>C (p.Trp53Ser) rs121908818
NM_017849.3(TMEM127):c.166A>G (p.Ile56Val) rs751779219
NM_017849.3(TMEM127):c.172G>A (p.Gly58Arg)
NM_017849.3(TMEM127):c.187C>T (p.Arg63Cys) rs1558756534
NM_017849.3(TMEM127):c.188G>A (p.Arg63His) rs1187661049
NM_017849.3(TMEM127):c.188G>T (p.Arg63Leu)
NM_017849.3(TMEM127):c.19G>A (p.Ala7Thr) rs1390402715
NM_017849.3(TMEM127):c.211G>A (p.Val71Met)
NM_017849.3(TMEM127):c.212T>A (p.Val71Glu) rs1553437719
NM_017849.3(TMEM127):c.217G>C (p.Gly73Arg) rs121908820
NM_017849.3(TMEM127):c.221A>C (p.Tyr74Ser) rs747804736
NM_017849.3(TMEM127):c.221A>G (p.Tyr74Cys)
NM_017849.3(TMEM127):c.228C>A (p.His76Gln) rs1060500599
NM_017849.3(TMEM127):c.245-10C>G
NM_017849.3(TMEM127):c.245-3C>T rs181429509
NM_017849.3(TMEM127):c.245-6C>G
NM_017849.3(TMEM127):c.253A>G (p.Met85Val) rs771261665
NM_017849.3(TMEM127):c.265A>G (p.Thr89Ala)
NM_017849.3(TMEM127):c.280C>T (p.Arg94Trp) rs121908824
NM_017849.3(TMEM127):c.281G>A (p.Arg94Gln) rs746831347
NM_017849.3(TMEM127):c.289G>A (p.Ala97Thr) rs752938517
NM_017849.3(TMEM127):c.292G>A (p.Ala98Thr) rs369144563
NM_017849.3(TMEM127):c.298T>A (p.Cys100Ser)
NM_017849.3(TMEM127):c.314T>C (p.Leu105Pro)
NM_017849.3(TMEM127):c.314T>G (p.Leu105Arg)
NM_017849.3(TMEM127):c.31G>T (p.Gly11Cys)
NM_017849.3(TMEM127):c.331T>C (p.Phe111Leu) rs1558752478
NM_017849.3(TMEM127):c.343G>A (p.Val115Ile)
NM_017849.3(TMEM127):c.353C>T (p.Pro118Leu) rs769359648
NM_017849.3(TMEM127):c.364G>A (p.Ala122Thr) rs1553436990
NM_017849.3(TMEM127):c.377C>T (p.Thr126Ile) rs775944671
NM_017849.3(TMEM127):c.379C>T (p.Arg127Cys) rs746883021
NM_017849.3(TMEM127):c.382C>T (p.Arg128Cys)
NM_017849.3(TMEM127):c.391T>A (p.Phe131Ile)
NM_017849.3(TMEM127):c.398A>G (p.His133Arg) rs587782203
NM_017849.3(TMEM127):c.3G>A (p.Met1Ile) rs121908814
NM_017849.3(TMEM127):c.407C>T (p.Thr136Met)
NM_017849.3(TMEM127):c.408G>A (p.Thr136=)
NM_017849.3(TMEM127):c.408G>T (p.Thr136=) rs143522428
NM_017849.3(TMEM127):c.413T>C (p.Leu138Pro) rs772714957
NM_017849.3(TMEM127):c.419G>T (p.Cys140Phe) rs121908828
NM_017849.3(TMEM127):c.427G>A (p.Val143Ile) rs772153618
NM_017849.3(TMEM127):c.430A>T (p.Ile144Phe) rs896909534
NM_017849.3(TMEM127):c.462C>G (p.Ile154Met)
NM_017849.3(TMEM127):c.472C>G (p.Gln158Glu) rs769988721
NM_017849.3(TMEM127):c.473A>G (p.Gln158Arg)
NM_017849.3(TMEM127):c.478C>T (p.Gln160Ter)
NM_017849.3(TMEM127):c.490T>C (p.Tyr164His) rs1553436892
NM_017849.3(TMEM127):c.494A>G (p.His165Arg) rs752030320
NM_017849.3(TMEM127):c.496G>A (p.Gly166Arg) rs372120755
NM_017849.3(TMEM127):c.50G>T (p.Ser17Ile)
NM_017849.3(TMEM127):c.519C>A (p.Phe173Leu) rs758676810
NM_017849.3(TMEM127):c.520G>A (p.Ala174Thr)
NM_017849.3(TMEM127):c.526A>G (p.Ser176Gly) rs1553436876
NM_017849.3(TMEM127):c.52C>T (p.Pro18Ser) rs1452142786
NM_017849.3(TMEM127):c.550G>C (p.Gly184Arg) rs1060500597
NM_017849.3(TMEM127):c.553G>A (p.Gly185Arg) rs1553436865
NM_017849.3(TMEM127):c.556G>C (p.Ala186Pro)
NM_017849.3(TMEM127):c.562A>G (p.Ile188Val) rs762657413
NM_017849.3(TMEM127):c.565C>G (p.Leu189Val)
NM_017849.3(TMEM127):c.56G>T (p.Gly19Val) rs1331019402
NM_017849.3(TMEM127):c.584T>G (p.Leu195Arg)
NM_017849.3(TMEM127):c.589C>T (p.Arg197Cys) rs140860906
NM_017849.3(TMEM127):c.590G>A (p.Arg197His) rs1231066976
NM_017849.3(TMEM127):c.598C>A (p.Pro200Thr) rs200351681
NM_017849.3(TMEM127):c.598C>T (p.Pro200Ser) rs200351681
NM_017849.3(TMEM127):c.604G>A (p.Glu202Lys) rs1429621198
NM_017849.3(TMEM127):c.619G>A (p.Ala207Thr) rs756818796
NM_017849.3(TMEM127):c.620C>T (p.Ala207Val) rs751044006
NM_017849.3(TMEM127):c.62G>A (p.Ser21Asn) rs1348645128
NM_017849.3(TMEM127):c.644A>G (p.Glu215Gly)
NM_017849.3(TMEM127):c.64G>A (p.Ala22Thr) rs1273425757
NM_017849.3(TMEM127):c.652G>A (p.Glu218Lys)
NM_017849.3(TMEM127):c.662C>T (p.Pro221Leu)
NM_017849.3(TMEM127):c.665C>T (p.Ala222Val) rs373951977
NM_017849.3(TMEM127):c.667G>A (p.Glu223Lys) rs779910556
NM_017849.3(TMEM127):c.669A>T (p.Glu223Asp)
NM_017849.3(TMEM127):c.671A>G (p.Tyr224Cys) rs1060500598
NM_017849.3(TMEM127):c.67C>A (p.Leu23Met) rs749807415
NM_017849.3(TMEM127):c.712C>A (p.Pro238Thr) rs1184921725
NM_017849.3(TMEM127):c.71C>G (p.Pro24Arg) rs1231130879
NM_017849.3(TMEM127):c.80C>T (p.Pro27Leu) rs983504110
NM_017849.3(TMEM127):c.88A>G (p.Ser30Gly) rs763476625
NM_017849.3(TMEM127):c.8C>T (p.Ala3Val) rs1553437754
NM_017849.3(TMEM127):c.94G>T (p.Ala32Ser) rs770347064
NM_017849.3(TMEM127):c.95C>T (p.Ala32Val) rs1459156138
NM_017929.6(PEX26):c.710G>A (p.Arg237His)
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.