ClinVar Miner

List of variants reported as uncertain significance for adrenal gland disease

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3325
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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_000002.11:g.178562111_178577218dup
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.*10C>T rs1057515814
NM_000033.4(ABCD1):c.*196C>G rs367591611
NM_000033.4(ABCD1):c.*208G>C rs193922092
NM_000033.4(ABCD1):c.*259A>G rs374092960
NM_000033.4(ABCD1):c.*412T>C rs1057515815
NM_000033.4(ABCD1):c.*481G>T rs199942817
NM_000033.4(ABCD1):c.*530G>A rs67211405
NM_000033.4(ABCD1):c.*548_*554GAGAGGG[1] rs1057515816
NM_000033.4(ABCD1):c.*795C>T rs1057515817
NM_000033.4(ABCD1):c.*870G>T rs72616452
NM_000033.4(ABCD1):c.*903G>A rs78155328
NM_000033.4(ABCD1):c.-10C>T rs782754717
NM_000033.4(ABCD1):c.-342G>A rs912340339
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.1261G>A (p.Glu421Lys) rs1255903649
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.1452C>G (p.Pro484=) rs782546330
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.1582G>A (p.Gly528Ser) rs376472029
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.1743_1745CGT[1] (p.Val583del) rs1557054859
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.1780+4G>A rs193922095
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.392G>T (p.Gly131Val) rs367799134
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.595G>A (p.Glu199Lys) rs1569540705
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.707G>A (p.Arg236His) rs201455322
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_000076.2(CDKN1C):c.-266G>A rs147317732
NM_000076.2(CDKN1C):c.848C>T (p.Ala283Val) rs776541692
NM_000102.3(CYP17A1):c.-166G>C rs58519757
NM_000102.4(CYP17A1):c.*130C>T rs886046665
NM_000102.4(CYP17A1):c.*165dup rs45455494
NM_000102.4(CYP17A1):c.*65C>A rs537220295
NM_000102.4(CYP17A1):c.*67C>A rs886046666
NM_000102.4(CYP17A1):c.-14G>A rs17115125
NM_000102.4(CYP17A1):c.-15C>T rs140012815
NM_000102.4(CYP17A1):c.-30dup rs886046667
NM_000102.4(CYP17A1):c.1269C>G (p.Thr423=) rs554217514
NM_000102.4(CYP17A1):c.1363A>G (p.Ile455Val) rs138630127
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000102.4(CYP17A1):c.298-11G>C rs188885755
NM_000102.4(CYP17A1):c.628A>G (p.Ser210Gly) rs142435666
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys) rs61754263
NM_000102.4(CYP17A1):c.847G>C (p.Asp283His) rs746480412
NM_000163.5(GHR):c.497G>A (p.Gly166Glu) rs761856079
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362
NM_000163.5(GHR):c.686G>A (p.Arg229His) rs6177
NM_000176.3(NR3C1):c.*1176C>T rs61753504
NM_000176.3(NR3C1):c.*1628A>G rs372713535
NM_000176.3(NR3C1):c.*2056dup rs886060046
NM_000176.3(NR3C1):c.*2567A>G rs886060044
NM_000176.3(NR3C1):c.*3003A>G rs61753509
NM_000176.3(NR3C1):c.*3300G>T rs72542770
NM_000176.3(NR3C1):c.*3937A>T rs4518436
NM_000176.3(NR3C1):c.*937C>A rs72542760
NM_000176.3(NR3C1):c.631A>G (p.Ser211Gly) rs886060061
NM_000176.3(NR3C1):c.753G>A (p.Pro251=) rs375379753
NM_000196.4(HSD11B2):c.220_222delinsGG (p.Arg74fs) rs1567529174
NM_000196.4(HSD11B2):c.272A>C (p.Asp91Ala) rs1356598056
NM_000196.4(HSD11B2):c.343_348del (p.Glu115_Leu116del) rs794726669
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780
NM_000196.4(HSD11B2):c.956_964dup (p.Val322_Asp323insAlaProVal) rs1567530910
NM_000198.3(HSD3B2):c.-145G>A rs35226381
NM_000198.4(HSD3B2):c.*121C>A rs886045198
NM_000198.4(HSD3B2):c.*177C>T rs886045199
NM_000198.4(HSD3B2):c.*397T>A rs753468192
NM_000198.4(HSD3B2):c.*46C>T rs371081728
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=) rs781770416
NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp) rs199919404
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser) rs376207606
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928
NM_000198.4(HSD3B2):c.308-8G>A rs371712928
NM_000198.4(HSD3B2):c.333T>G (p.Cys111Trp) rs886045196
NM_000198.4(HSD3B2):c.423C>T (p.His141=) rs751470493
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=) rs6207
NM_000198.4(HSD3B2):c.510G>C (p.Gly170=) rs886045197
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=) rs143758913
NM_000198.4(HSD3B2):c.625G>A (p.Gly209Arg) rs587669956
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=) rs755461071
NM_000198.4(HSD3B2):c.789C>G (p.Ser263Arg) rs771688849
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.1309_1317del (p.Leu437_Val439del) rs1555164218
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+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.1421A>C (p.Glu474Ala) rs1565638407
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.1558C>T (p.Pro520Ser)
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.409C>T (p.Arg137Trp) rs1208267598
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.527G>A (p.Arg176Gln) rs607969
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.669+18C>T rs180737290
NM_000244.3(MEN1):c.670-5C>G rs752563214
NM_000244.3(MEN1):c.670-6C>G rs77461664
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_000286.3(PEX12):c.-26G>A rs727504080
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894
NM_000286.3(PEX12):c.1023del (p.Thr342fs) rs1555549723
NM_000286.3(PEX12):c.1070_1071del (p.Pro357fs) rs1555549722
NM_000286.3(PEX12):c.182_184dup (p.Ile62_Phe63insLys) rs1412916235
NM_000286.3(PEX12):c.18_41del (p.His7_Ala14del) rs1555549917
NM_000286.3(PEX12):c.201_203TCT[1] (p.Leu70del) rs61752098
NM_000286.3(PEX12):c.349A>G (p.Ile117Val) rs767207001
NM_000286.3(PEX12):c.353T>C (p.Met118Thr) rs879075660
NM_000286.3(PEX12):c.362_364TTC[2] (p.Leu123del) rs751058068
NM_000286.3(PEX12):c.392_400del (p.Glu131_Leu133del) rs1458853023
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr) rs200413804
NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly) rs759584047
NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del) rs1366848752
NM_000286.3(PEX12):c.949C>T (p.Leu317Phe) rs61752112
NM_000286.3(PEX12):c.983_984GT[2] (p.Phe330fs) rs764657253
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val) rs1554127531
NM_000287.4(PEX6):c.133_147dup (p.Glu45_Gly49dup) rs1421584986
NM_000287.4(PEX6):c.1440_1442TGC[2] (p.Ala483del) rs1554127389
NM_000287.4(PEX6):c.202_219del (p.Gly68_Gln73del) rs1162020526
NM_000287.4(PEX6):c.2225T>C (p.Leu742Pro) rs267608235
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239
NM_000287.4(PEX6):c.254_259dup (p.Ala85_Leu86dup) rs1554128546
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246
NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup) rs61752142
NM_000287.4(PEX6):c.2764_2765del (p.Met922fs) rs1554126781
NM_000287.4(PEX6):c.295C>T (p.Arg99Trp) rs772383329
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser) rs61752139
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) rs778791031
NM_000287.4(PEX6):c.541_543GTG[1] (p.Val182del) rs1554128449
NM_000287.4(PEX6):c.548_550CCT[1] (p.Ser184del) rs1554128446
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu) rs886037779
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000287.4(PEX6):c.718G>A (p.Ala240Thr) rs886061412
NM_000287.4(PEX6):c.719C>G (p.Ala240Gly) rs372269200
NM_000318.3(PEX2):c.-17-2A>G rs1289852067
NM_000318.3(PEX2):c.349_351GAA[1] (p.Glu118del) rs1554584507
NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla) rs1554584423
NM_000318.3(PEX2):c.769A>G (p.Ile257Val) rs199874465
NM_000318.3(PEX2):c.782A>G (p.His261Arg) rs749956542
NM_000318.3(PEX2):c.857_859del (p.Glu286del) rs1460738027
NM_000318.3(PEX2):c.884C>G (p.Ser295Ter) rs1554584377
NM_000318.3(PEX2):c.916T>C (p.Ter306Gln) rs1554584372
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302
NM_000319.4(PEX5):c.1612C>T (p.Arg538Cys)
NM_000319.4(PEX5):c.164G>T (p.Gly55Val)
NM_000319.4(PEX5):c.1790G>A (p.Ser597Asn) rs146567534
NM_000349.2(STAR):c.-249C>A rs886062906
NM_000349.2(STAR):c.-255G>T rs567801443
NM_000349.3(STAR):c.*1122T>A rs72556520
NM_000349.3(STAR):c.*116T>G rs35462433
NM_000349.3(STAR):c.*1384del rs886062898
NM_000349.3(STAR):c.*1543C>A rs748527738
NM_000349.3(STAR):c.*230A>G rs34575008
NM_000349.3(STAR):c.*348C>T rs886062904
NM_000349.3(STAR):c.*556A>G rs886062903
NM_000349.3(STAR):c.*796A>G rs886062902
NM_000349.3(STAR):c.*817C>T rs886062901
NM_000349.3(STAR):c.*818G>A rs558498679
NM_000349.3(STAR):c.*88G>C rs112828857
NM_000349.3(STAR):c.*913C>T rs551135472
NM_000349.3(STAR):c.*93C>T rs776003335
NM_000349.3(STAR):c.*948del rs886062900
NM_000349.3(STAR):c.*965_*967dup rs11326306
NM_000349.3(STAR):c.*981A>G rs188232971
NM_000349.3(STAR):c.-70G>T rs370257148
NM_000349.3(STAR):c.120G>A (p.Leu40=) rs138786388
NM_000349.3(STAR):c.149_157del (p.Asn50_Val52del) rs1554503018
NM_000349.3(STAR):c.153G>A (p.Gln51=) rs72552290
NM_000349.3(STAR):c.178+9T>C rs777624416
NM_000349.3(STAR):c.289_291AAG[1] (p.Lys98del) rs146872295
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868
NM_000349.3(STAR):c.466-11T>A rs1053284504
NM_000349.3(STAR):c.466-5G>A rs375678713
NM_000349.3(STAR):c.484A>C (p.Lys162Gln) rs886062905
NM_000349.3(STAR):c.504C>T (p.His168=) rs147138315
NM_000349.3(STAR):c.563G>A (p.Arg188His) rs61736315
NM_000349.3(STAR):c.574C>T (p.Arg192Cys) rs752311616
NM_000349.3(STAR):c.814C>T (p.Arg272Cys) rs751759820
NM_000383.3(AIRE):c.-653_-649dup rs1555871683
NM_000383.3(AIRE):c.-656_-655insCCC rs1016179869
NM_000383.4(AIRE):c.-24_1del (p.Met1fs) rs1555871766
NM_000383.4(AIRE):c.1054_1068del (p.Ala352_Arg356del) rs1481102287
NM_000383.4(AIRE):c.1054_1068dup (p.Ala352_Arg356dup) rs1481102287
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.1078_1089del (p.Pro360_Glu363del) rs1555872881
NM_000383.4(AIRE):c.1084G>T (p.Val362Leu) rs763954225
NM_000383.4(AIRE):c.1095+23_1095+64del rs1037154559
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.1279-18C>T rs72650678
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.1336T>G (p.Cys446Gly) rs1555873106
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.1450G>A (p.Val484Met) rs367966318
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.1588C>T (p.Gln530Ter) rs1472708073
NM_000383.4(AIRE):c.1612del (p.Arg538fs) rs1555873662
NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser) rs1568932096
NM_000383.4(AIRE):c.166C>T (p.Pro56Ser)
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp) rs747941115
NM_000383.4(AIRE):c.226G>A (p.Asp76Asn) rs146810389
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574
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.43C>T (p.Arg15Cys) rs179363875
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.538+42del rs3214074
NM_000383.4(AIRE):c.538G>A (p.Gly180Arg)
NM_000383.4(AIRE):c.55G>A (p.Ala19Thr) rs1555871798
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.652+14C>T rs41277546
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.892G>A (p.Glu298Lys) rs763636007
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_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu) rs771224088
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) rs371327573
NM_000466.3(PEX1):c.2783+6T>C
NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro)
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430
NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys) rs553001596
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940
NM_000497.3(CYP11B1):c.*1164G>A rs886062735
NM_000497.3(CYP11B1):c.*1209C>T rs757505651
NM_000497.3(CYP11B1):c.*1358T>C rs886062734
NM_000497.3(CYP11B1):c.*1590G>C rs886062733
NM_000497.3(CYP11B1):c.*245C>G rs538608688
NM_000497.3(CYP11B1):c.*485C>G rs886062737
NM_000497.3(CYP11B1):c.*495C>T rs886062736
NM_000497.3(CYP11B1):c.*670A>C rs879537131
NM_000497.3(CYP11B1):c.*737C>T rs748684062
NM_000497.3(CYP11B1):c.*901G>A rs748103274
NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766
NM_000497.3(CYP11B1):c.1015G>A (p.Ala339Thr) rs193922534
NM_000497.3(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile) rs193922535
NM_000497.3(CYP11B1):c.1016C>T (p.Ala339Val) rs193922536
NM_000497.3(CYP11B1):c.1021C>A (p.Arg341Ser) rs372115638
NM_000497.3(CYP11B1):c.1027G>A (p.Glu343Lys) rs1554652796
NM_000497.3(CYP11B1):c.1090T>C (p.Leu364=) rs754660381
NM_000497.3(CYP11B1):c.1112A>G (p.Glu371Gly) rs368944209
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.3(CYP11B1):c.1122-12C>T rs193922537
NM_000497.3(CYP11B1):c.1122-20A>G rs61752794
NM_000497.3(CYP11B1):c.1145T>G (p.Leu382Arg) rs1412048304
NM_000497.3(CYP11B1):c.1157C>A (p.Ala386Glu) rs4541
NM_000497.3(CYP11B1):c.1205T>C (p.Leu402Ser) rs886062738
NM_000497.3(CYP11B1):c.1280G>A (p.Arg427His) rs754432887
NM_000497.3(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238
NM_000497.3(CYP11B1):c.1486del (p.Leu496fs) rs1554652528
NM_000497.3(CYP11B1):c.1488C>T (p.Leu496=) rs776766470
NM_000497.3(CYP11B1):c.187G>C (p.Asp63His) rs5282
NM_000497.3(CYP11B1):c.235T>A (p.Phe79Ile) rs1489638195
NM_000497.3(CYP11B1):c.346T>G (p.Trp116Gly) rs772733691
NM_000497.3(CYP11B1):c.374A>G (p.His125Arg) rs757389720
NM_000497.3(CYP11B1):c.385G>A (p.Val129Met) rs377423817
NM_000497.3(CYP11B1):c.412C>T (p.Arg138Cys) rs764251434
NM_000497.3(CYP11B1):c.422G>A (p.Arg141Gln) rs267601810
NM_000497.3(CYP11B1):c.446T>C (p.Leu149Pro) rs1554653200
NM_000497.3(CYP11B1):c.449C>T (p.Ser150Leu) rs142484434
NM_000497.3(CYP11B1):c.473T>C (p.Leu158Pro) rs1554653191
NM_000497.3(CYP11B1):c.494C>A (p.Ala165Asp) rs1554653185
NM_000497.3(CYP11B1):c.517_519AAG[2] (p.Lys175del) rs535861895
NM_000497.3(CYP11B1):c.632_640del (p.Leu211_Gly213del) rs1554653044
NM_000497.3(CYP11B1):c.748C>T (p.Pro250Ser) rs753471858
NM_000497.3(CYP11B1):c.799+5G>C rs193922542
NM_000497.3(CYP11B1):c.954+9G>C rs6411
NM_000497.3(CYP11B1):c.955-15_955-1del rs1554652823
NM_000498.3(CYP11B2):c.*1047C>T rs886062739
NM_000498.3(CYP11B2):c.*204C>G rs773811282
NM_000498.3(CYP11B2):c.*431A>C rs886062742
NM_000498.3(CYP11B2):c.*504C>T rs201487778
NM_000498.3(CYP11B2):c.*743C>T rs886062741
NM_000498.3(CYP11B2):c.*789G>A rs61763990
NM_000498.3(CYP11B2):c.*972C>G rs886062740
NM_000498.3(CYP11B2):c.1006G>A (p.Val336Met) rs373369254
NM_000498.3(CYP11B2):c.1039G>A (p.Ala347Thr) rs746708275
NM_000498.3(CYP11B2):c.591A>G (p.Ile197Met) rs886062744
NM_000498.3(CYP11B2):c.595+15G>T rs886062743
NM_000498.3(CYP11B2):c.674A>G (p.His225Arg) rs144140791
NM_000498.3(CYP11B2):c.800-14T>C rs563246146
NM_000498.3(CYP11B2):c.844C>T (p.Arg282Cys) rs774989997
NM_000500.9(CYP21A2):c.*13G>A
NM_000500.9(CYP21A2):c.293-7C>G rs193922544
NM_000500.9(CYP21A2):c.738+12_738+13inv rs71552100
NM_000500.9(CYP21A2):c.740del (p.Glu247fs) rs750499484
NM_000546.5(TP53):c.*1160T>G rs886053499
NM_000546.5(TP53):c.*1175A>C rs78378222
NM_000546.5(TP53):c.*327C>T rs886053512
NM_000546.5(TP53):c.*346G>T rs886053511
NM_000546.5(TP53):c.*347T>C rs886053510
NM_000546.5(TP53):c.*382C>T rs886053509
NM_000546.5(TP53):c.*548G>T rs886053508
NM_000546.5(TP53):c.*565G>T rs886053507
NM_000546.5(TP53):c.*626C>T rs886053506
NM_000546.5(TP53):c.*735C>A rs886053505
NM_000546.5(TP53):c.*747C>T rs886053504
NM_000546.5(TP53):c.*754C>T rs199729221
NM_000546.5(TP53):c.*772delT rs200757381
NM_000546.5(TP53):c.*779delC rs886053503
NM_000546.5(TP53):c.*790G>A rs886053502
NM_000546.5(TP53):c.*806C>A rs886053501
NM_000546.5(TP53):c.*977G>C rs886053500
NM_000546.5(TP53):c.*99G>A rs886053513
NM_000546.5(TP53):c.-202_-29+?dup174
NM_000546.5(TP53):c.-73C>A rs886053514
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.1069A>G (p.Lys357Glu) rs1567541856
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.1165G>T (p.Gly389Trp) 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.171C>A (p.Asp57Glu) rs587782776
NM_000546.5(TP53):c.173C>G (p.Pro58Arg) rs144386518
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.215C>G (p.Pro72Arg) 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.248C>T (p.Ala83Val) rs201717599
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.285T>G (p.Ser95=) rs876658696
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>C (p.Tyr107His) 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.320A>G (p.Tyr107Cys) rs587782447
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.322_324del (p.Gly108del) rs587783063
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.399G>A (p.Met133Ile) rs1064795139
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.417G>T (p.Lys139Asn) rs1567554121
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>A (p.Tyr205Asn) rs1057520008
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.623A>G (p.Asp208Gly) rs1464727668
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.63C>T (p.Asp21=) rs1800369
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.642T>G (p.His214Gln) rs587781386
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>A (p.Val216Met) rs730882025
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.66A>G (p.Leu22=) rs748527030
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.673-9delA 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>A (p.Cys242Ser) rs1057519982
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.776A>T (p.Asp259Val) 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.91G>A (p.Val31Ile) rs201753350
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.97-9C>T rs202217267
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+13G>C rs369599972
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.*1072C>T rs886057715
NM_000551.3(VHL):c.*1172C>T rs528852958
NM_000551.3(VHL):c.*1207G>A rs139557214
NM_000551.3(VHL):c.*1249G>A rs886057716
NM_000551.3(VHL):c.*1281A>G rs886057717
NM_000551.3(VHL):c.*1330A>G rs886057718
NM_000551.3(VHL):c.*1347C>A rs886057719
NM_000551.3(VHL):c.*1371A>G rs771759826
NM_000551.3(VHL):c.*1419A>G rs141916278
NM_000551.3(VHL):c.*1481G>A rs886057720
NM_000551.3(VHL):c.*1513A>G rs538580892
NM_000551.3(VHL):c.*1617G>T rs886057721
NM_000551.3(VHL):c.*1643C>A rs886057722
NM_000551.3(VHL):c.*1677C>T rs886057723
NM_000551.3(VHL):c.*1691A>G rs539201437
NM_000551.3(VHL):c.*1741G>T rs886057724
NM_000551.3(VHL):c.*1780C>G rs886057725
NM_000551.3(VHL):c.*1782T>G rs886057726
NM_000551.3(VHL):c.*1808A>G rs886057727
NM_000551.3(VHL):c.*1887C>A rs886057728
NM_000551.3(VHL):c.*1922G>A rs886057729
NM_000551.3(VHL):c.*2034T>A rs1136249
NM_000551.3(VHL):c.*2090delT rs886057730
NM_000551.3(VHL):c.*2093delC rs886057731
NM_000551.3(VHL):c.*2094delT rs886057732
NM_000551.3(VHL):c.*2117delA rs757106274
NM_000551.3(VHL):c.*2118delT rs886057733
NM_000551.3(VHL):c.*2224A>G rs886057734
NM_000551.3(VHL):c.*2419dupA rs564788050
NM_000551.3(VHL):c.*2432T>G rs886057736
NM_000551.3(VHL):c.*2540_*2545delTTTTTT rs71052299
NM_000551.3(VHL):c.*2541_*2546delTTTTTG rs886057738
NM_000551.3(VHL):c.*2543_*2546delTTTG rs886057739
NM_000551.3(VHL):c.*2545delT rs71052299
NM_000551.3(VHL):c.*2548_*2549delGA rs886057740
NM_000551.3(VHL):c.*2562C>T rs747406421
NM_000551.3(VHL):c.*2571A>G rs886057741
NM_000551.3(VHL):c.*2647C>A rs886057742
NM_000551.3(VHL):c.*2660T>A rs886057743
NM_000551.3(VHL):c.*266_*269delTCAG rs886057704
NM_000551.3(VHL):c.*2670G>C rs886057744
NM_000551.3(VHL):c.*2738G>A rs886057745
NM_000551.3(VHL):c.*2762T>C rs886057746
NM_000551.3(VHL):c.*2782C>G rs886057747
NM_000551.3(VHL):c.*280A>G rs886057705
NM_000551.3(VHL):c.*2812A>C rs886057748
NM_000551.3(VHL):c.*2854G>T rs546347626
NM_000551.3(VHL):c.*2960C>A rs886057749
NM_000551.3(VHL):c.*2988G>A rs886057750
NM_000551.3(VHL):c.*3128G>A rs886057751
NM_000551.3(VHL):c.*3205C>T rs561918442
NM_000551.3(VHL):c.*3222A>G rs886057752
NM_000551.3(VHL):c.*3249C>T rs886057753
NM_000551.3(VHL):c.*3261T>C rs886057754
NM_000551.3(VHL):c.*3330_*3336dupACAAAAA rs886057755
NM_000551.3(VHL):c.*3389G>A rs368247150
NM_000551.3(VHL):c.*3470G>T rs886057756
NM_000551.3(VHL):c.*349G>T rs886057706
NM_000551.3(VHL):c.*3506G>T rs886057759
NM_000551.3(VHL):c.*3545C>A rs886057760
NM_000551.3(VHL):c.*3616C>T rs750516726
NM_000551.3(VHL):c.*3625T>A rs552161251
NM_000551.3(VHL):c.*3645_*3646insGT rs1553620861
NM_000551.3(VHL):c.*385delT rs886057707
NM_000551.3(VHL):c.*392G>A rs886057708
NM_000551.3(VHL):c.*448G>T rs886057709
NM_000551.3(VHL):c.*597G>A rs886057711
NM_000551.3(VHL):c.*635G>A rs886057712
NM_000551.3(VHL):c.*687C>A rs886057713
NM_000551.3(VHL):c.*7C>G rs778005138
NM_000551.3(VHL):c.*816G>C rs142396182
NM_000551.3(VHL):c.*989C>T rs186084634
NM_000551.3(VHL):c.-125C>A rs886057700
NM_000551.3(VHL):c.-166C>T rs886057699
NM_000551.3(VHL):c.-207C>T rs886057698
NM_000551.3(VHL):c.-30C>T rs886057701
NM_000551.3(VHL):c.-64C>T rs772944298
NM_000551.3(VHL):c.-73C>T
NM_000551.3(VHL):c.-77_-32del46 rs1553619239
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.10A>T (p.Arg4Trp) rs886057702
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.119C>T (p.Pro40Leu) rs200343185
NM_000551.3(VHL):c.11G>T (p.Arg4Met) rs886057703
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>A (p.Leu63Gln) rs104893827
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>G (p.Met1Val) rs1060503557
NM_000551.3(VHL):c.1A>T (p.Met1Leu) rs1060503557
NM_000551.3(VHL):c.201C>A (p.Asn67Lys) rs769658318
NM_000551.3(VHL):c.203C>T (p.Ser68Leu) rs869025617
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>A (p.Val74Asp) rs5030803
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.224T>G (p.Ile75Ser) rs1064794271
NM_000551.3(VHL):c.225C>G (p.Ile75Met)
NM_000551.3(VHL):c.227T>A (p.Phe76Tyr) rs730882033
NM_000551.3(VHL):c.227T>C (p.Phe76Ser) rs730882033
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.241C>T (p.Pro81Ser) rs104893829
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.278G>T (p.Gly93Val) rs1553619440
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.287A>C (p.Gln96Pro) rs1559426089
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.28G>T (p.Glu10Ter) rs1057519261
NM_000551.3(VHL):c.291_302del (p.Tyr98_Leu101del)
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) rs864321643
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.326T>A (p.Ile109Asn) rs398123482
NM_000551.3(VHL):c.332G>T (p.Ser111Ile) rs869025631
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.341-3T>G rs1131690965
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.386T>C (p.Leu129Pro) rs1559428119
NM_000551.3(VHL):c.388G>T (p.Val130Phe) rs104893830
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.407T>G (p.Phe136Cys) rs5030833
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>G (p.Asp143Glu) rs773556807
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.445G>C (p.Ala149Pro) rs587780077
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.463G>A (p.Val155Met) rs869025659
NM_000551.3(VHL):c.464-117delT rs193922612
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.483_500dup (p.Cys162_Arg167dup) rs1553620312
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.490C>G (p.Gln164Glu) rs5030819
NM_000551.3(VHL):c.493G>T (p.Val165Phe)
NM_000551.3(VHL):c.494T>G (p.Val165Gly)
NM_000551.3(VHL):c.497T>G (p.Val166Gly) rs397516445
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.539T>G (p.Ile180Ser) rs1559429750
NM_000551.3(VHL):c.53C>T (p.Ala18Val) rs1553619302
NM_000551.3(VHL):c.540_543del (p.Val181fs) rs869025664
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.546del (p.Arg182fs) rs869025665
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.558_560del (p.Glu186del) rs1559429813
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.585_606dup (p.Gln203fs) rs1559429876
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.639T>C (p.Asp213=) rs775624944
NM_000551.3(VHL):c.69C>A (p.Tyr23Ter) rs1553619313
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_000781.3(CYP11A1):c.-35A>G rs886051481
NM_000781.3(CYP11A1):c.-59A>G rs567971184
NM_000781.3(CYP11A1):c.1099A>T (p.Met367Leu) rs764270391
NM_000781.3(CYP11A1):c.1164C>T (p.His388=) rs537187397
NM_000781.3(CYP11A1):c.1201G>A (p.Asp401Asn) rs886051479
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile) rs143655263
NM_000781.3(CYP11A1):c.269+4A>G rs199573967
NM_000781.3(CYP11A1):c.366C>T (p.Leu122=) rs530494910
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs) rs1567053134
NM_000781.3(CYP11A1):c.567G>A (p.Ala189=) rs770022852
NM_000781.3(CYP11A1):c.589G>C (p.Asp197His) rs886051480
NM_000781.3(CYP11A1):c.830-14C>G rs190239248
NM_000781.3(CYP11A1):c.86G>A (p.Arg29His) rs150725205
NM_000781.3(CYP11A1):c.937T>C (p.Phe313Leu) rs1060499732
NM_000781.3(CYP11A1):c.93G>A (p.Arg31=) rs141127674
NM_000890.5(KCNJ5):c.*1024A>G rs886048018
NM_000890.5(KCNJ5):c.*103G>C rs886048012
NM_000890.5(KCNJ5):c.*1151C>T rs886048019
NM_000890.5(KCNJ5):c.*1323del rs886048020
NM_000890.5(KCNJ5):c.*200C>A rs756204980
NM_000890.5(KCNJ5):c.*228G>T rs886048013
NM_000890.5(KCNJ5):c.*667C>T rs886048014
NM_000890.5(KCNJ5):c.*747A>G rs886048015
NM_000890.5(KCNJ5):c.*861_*865GTTTT[8] rs36205004
NM_000890.5(KCNJ5):c.*936C>G rs77525858
NM_000890.5(KCNJ5):c.*978T>G rs886048017
NM_000890.5(KCNJ5):c.-253G>T rs886048009
NM_000890.5(KCNJ5):c.-258_-255del rs886048008
NM_000890.5(KCNJ5):c.-272A>G rs886048007
NM_000890.5(KCNJ5):c.-284_-283insAAGAGA rs886048005
NM_000890.5(KCNJ5):c.-285G>C rs886048006
NM_000890.5(KCNJ5):c.-287G>C rs868130049
NM_000890.5(KCNJ5):c.-289G>C rs60658163
NM_000890.5(KCNJ5):c.-289_-288GA[18] rs71057905
NM_000890.5(KCNJ5):c.-289_-288GA[19] rs71057905
NM_000890.5(KCNJ5):c.-289_-288GA[20] rs71057905
NM_000890.5(KCNJ5):c.-291_-286del rs886048002
NM_000890.5(KCNJ5):c.-291_-288del rs886048001
NM_000890.5(KCNJ5):c.-291_-290GA[3] rs886048000
NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAG rs886048003
NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAGAG rs886048003
NM_000890.5(KCNJ5):c.-293C>G rs376640553
NM_000890.5(KCNJ5):c.-293_-288del rs886047997
NM_000890.5(KCNJ5):c.-293_-289delinsGAGAGAGAGAGAA rs886047999
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-292GA[3] rs886047996
NM_000890.5(KCNJ5):c.-293_-292GA[4] rs886047996
NM_000890.5(KCNJ5):c.-294_-293insGAGA rs886047996
NM_000890.5(KCNJ5):c.-295C>G rs372328307
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAG rs886047995
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAG rs886047995
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAGAGAGAG rs886047995
NM_000890.5(KCNJ5):c.-295_-294GA[3] rs886047994
NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAG rs886047993
NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAGAG rs886047993
NM_000890.5(KCNJ5):c.-299_-291delinsGAGAG rs886047992
NM_000890.5(KCNJ5):c.-301_-291delinsG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAGAGAGAGAG rs886047990
NM_000890.5(KCNJ5):c.-303_-291delinsGAG rs886047988
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAG rs886047988
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAG rs886047988
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAGAGAGAGAGAGAGAGAG rs886047988
NM_000890.5(KCNJ5):c.-305_-291delinsGAGAG rs886047987
NM_000890.5(KCNJ5):c.-333_-332CA[24] rs113761140
NM_000890.5(KCNJ5):c.591G>A (p.Ala197=) rs750048771
NM_000890.5(KCNJ5):c.800G>A (p.Arg267His) rs886048010
NM_000890.5(KCNJ5):c.968T>C (p.Met323Thr) rs886048011
NM_000941.3(POR):c.1384G>C (p.Ala462Pro)
NM_000941.3(POR):c.1660C>T (p.Arg554Ter) rs782336856
NM_000941.3(POR):c.214T>C (p.Phe72Leu) rs782107314
NM_000941.3(POR):c.513C>G (p.Phe171Leu)
NM_001018077.1(NR3C1):c.*101dup rs776865643
NM_001018077.1(NR3C1):c.*1055T>A rs886060051
NM_001018077.1(NR3C1):c.*1087_*1088dup rs886060050
NM_001018077.1(NR3C1):c.*1241C>T rs768128384
NM_001018077.1(NR3C1):c.*1245_*1248dup rs10482710
NM_001018077.1(NR3C1):c.*1407A>G rs886060049
NM_001018077.1(NR3C1):c.*149T>C rs886060059
NM_001018077.1(NR3C1):c.*1509C>A rs886060048
NM_001018077.1(NR3C1):c.*1589A>G rs886060047
NM_001018077.1(NR3C1):c.*2031C>T rs369162225
NM_001018077.1(NR3C1):c.*2151A>C rs746282402
NM_001018077.1(NR3C1):c.*2521T>A rs886060045
NM_001018077.1(NR3C1):c.*2601A>T rs886060043
NM_001018077.1(NR3C1):c.*2873G>A rs886060042
NM_001018077.1(NR3C1):c.*3046G>C rs886060041
NM_001018077.1(NR3C1):c.*3077G>A rs886060040
NM_001018077.1(NR3C1):c.*3319G>C rs886060039
NM_001018077.1(NR3C1):c.*3431G>C rs886060038
NM_001018077.1(NR3C1):c.*3466T>C rs886060037
NM_001018077.1(NR3C1):c.*36G>A rs761674033
NM_001018077.1(NR3C1):c.*3759dup rs772052566
NM_001018077.1(NR3C1):c.*401dup rs886060058
NM_001018077.1(NR3C1):c.*409del rs10482707
NM_001018077.1(NR3C1):c.*409dup rs10482707
NM_001018077.1(NR3C1):c.*618A>G rs886060056
NM_001018077.1(NR3C1):c.*750del rs886060055
NM_001018077.1(NR3C1):c.*752A>G rs869125609
NM_001018077.1(NR3C1):c.*766_*769dup rs34248080
NM_001018077.1(NR3C1):c.*768_*769dup rs34248080
NM_001018077.1(NR3C1):c.*769dup rs34248080
NM_001018077.1(NR3C1):c.*834_*837dup rs886060053
NM_001018077.1(NR3C1):c.*861_*868del rs547184962
NM_001018077.1(NR3C1):c.*946T>G rs886060052
NM_001018077.1(NR3C1):c.2307C>G (p.Ile769Met) rs886060060
NM_001018077.1(NR3C1):c.289G>A (p.Val97Met) rs886060062
NM_001018077.1(NR3C1):c.309A>T (p.Gly103=) rs779300133
NM_001018077.1(NR3C1):c.850A>G (p.Ile284Val) rs766200119
NM_001126113.2(TP53):c.1009C>T (p.Arg337Ter) rs554738122
NM_001126113.2(TP53):c.1028T>A (p.Ile343Lys) rs1567545268
NM_001128840.3(CACNA1D):c.5498A>G (p.Tyr1833Cys) rs1559716901
NM_001128840.3(CACNA1D):c.5837G>A (p.Arg1946His) rs150366975
NM_002382.4(MAX):c.37-15dupT rs747340873
NM_002382.5(MAX):c.*1023C>T rs886050629
NM_002382.5(MAX):c.*1276G>C rs748335228
NM_002382.5(MAX):c.*1285T>C rs886050628
NM_002382.5(MAX):c.*170C>T rs762709691
NM_002382.5(MAX):c.*320T>G rs750680125
NM_002382.5(MAX):c.*44G>A rs767990726
NM_002382.5(MAX):c.*503T>G rs886050633
NM_002382.5(MAX):c.*534G>A rs886050632
NM_002382.5(MAX):c.*608_*609CA[1] rs886050631
NM_002382.5(MAX):c.*942C>T rs886050630
NM_002382.5(MAX):c.-110A>T rs886050636
NM_002382.5(MAX):c.-126_-123AGTG[6] rs556734672
NM_002382.5(MAX):c.-127G>A rs886050637
NM_002382.5(MAX):c.-152_-151TG[8] rs886050638
NM_002382.5(MAX):c.-30C>G rs755465193
NM_002382.5(MAX):c.-80G>A rs886050634
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_002472.3(MYH8):c.3874C>T (p.Arg1292Ter) rs150008607
NM_002472.3(MYH8):c.977T>C (p.Ile326Thr) rs34124921
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser) rs771610641
NM_002734.4(PRKAR1A):c.*1014A>G rs886053311
NM_002734.4(PRKAR1A):c.*1062A>G rs752303671
NM_002734.4(PRKAR1A):c.*1118dupT rs886053312
NM_002734.4(PRKAR1A):c.*1168A>T rs886053313
NM_002734.4(PRKAR1A):c.*1487C>T rs886053314
NM_002734.4(PRKAR1A):c.*1839G>A rs886053316
NM_002734.4(PRKAR1A):c.*1842A>T rs886053317
NM_002734.4(PRKAR1A):c.*2067T>C rs886053318
NM_002734.4(PRKAR1A):c.*2072G>A rs886053319
NM_002734.4(PRKAR1A):c.*2196C>T rs886053320
NM_002734.4(PRKAR1A):c.*389T>G rs886053307
NM_002734.4(PRKAR1A):c.*526G>A rs886053308
NM_002734.4(PRKAR1A):c.*587delT rs398041821
NM_002734.4(PRKAR1A):c.*704T>G rs886053310
NM_002734.4(PRKAR1A):c.*724T>A rs746409603
NM_002734.4(PRKAR1A):c.-16C>A rs886053305
NM_002734.4(PRKAR1A):c.-53C>T rs886053304
NM_002734.4(PRKAR1A):c.-6-7C>T rs373646911
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.309G>A (p.Glu103=) rs746113372
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.*102A>G rs201155896
NM_003000.2(SDHB):c.*133T>C rs111686611
NM_003000.2(SDHB):c.-135G>A rs886045587
NM_003000.2(SDHB):c.-142A>G rs886045588
NM_003000.2(SDHB):c.-81G>T rs886045586
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.423+20T>A rs190139590
NM_003000.2(SDHB):c.423C>T (p.Pro141=) rs150542357
NM_003000.2(SDHB):c.424-16_424-14dup rs34261028
NM_003000.2(SDHB):c.424-19_424-14delTTCTTC rs34261028
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.445C>T (p.Gln149Ter) rs876658451
NM_003000.2(SDHB):c.446A>G (p.Gln149Arg)
NM_003000.2(SDHB):c.454T>C (p.Ser152Pro) rs886045584
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.487T>C (p.Ser163Pro) rs33927012
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.*1012G>T rs886045484
NM_003001.3(SDHC):c.*1098T>C rs569588829
NM_003001.3(SDHC):c.*115T>G rs886045478
NM_003001.3(SDHC):c.*1314C>A rs376293449
NM_003001.3(SDHC):c.*1332C>A rs886045485
NM_003001.3(SDHC):c.*1481G>A rs886045486
NM_003001.3(SDHC):c.*1534G>T rs886045487
NM_003001.3(SDHC):c.*1584C>G rs886045488
NM_003001.3(SDHC):c.*1695G>T rs886045489
NM_003001.3(SDHC):c.*1699A>G rs886045490
NM_003001.3(SDHC):c.*174G>A rs886045479
NM_003001.3(SDHC):c.*1784G>C rs886045491
NM_003001.3(SDHC):c.*1843C>A rs886045492
NM_003001.3(SDHC):c.*1889T>C rs746551127
NM_003001.3(SDHC):c.*1898C>A rs886045493
NM_003001.3(SDHC):c.*1918G>A rs867593097
NM_003001.3(SDHC):c.*20T>G rs587778662
NM_003001.3(SDHC):c.*2141C>A rs886045494
NM_003001.3(SDHC):c.*2236C>A rs886045495
NM_003001.3(SDHC):c.*2264G>T rs886045496
NM_003001.3(SDHC):c.*2274G>A rs886045497
NM_003001.3(SDHC):c.*251C>T rs886045480
NM_003001.3(SDHC):c.*34A>G rs886045477
NM_003001.3(SDHC):c.*397G>A rs74124906
NM_003001.3(SDHC):c.*518G>A rs375109418
NM_003001.3(SDHC):c.*527G>T rs886045481
NM_003001.3(SDHC):c.*632A>G rs886045482
NM_003001.3(SDHC):c.*780G>A rs886045483
NM_003001.3(SDHC):c.*78G>A rs182629842
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.21-10dupT rs759481419
NM_003001.3(SDHC):c.215G>A (p.Arg72His) rs778582853
NM_003001.3(SDHC):c.218G>A (p.Gly73Asp) rs1553264219
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.406-13delG rs752685687
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.77+13G>C rs779727693
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_003002.3(SDHD):c.315-3delT rs1566702297
NM_003002.4(SDHD):c.*302A>G rs201163059
NM_003002.4(SDHD):c.*340A>G rs201280702
NM_003002.4(SDHD):c.*369A>G rs200753024
NM_003002.4(SDHD):c.*587A>G rs886047701
NM_003002.4(SDHD):c.*648A>G rs201560447
NM_003002.4(SDHD):c.*71C>A rs886047700
NM_003002.4(SDHD):c.*738T>A rs886047702
NM_003002.4(SDHD):c.*815T>C rs886047703
NM_003002.4(SDHD):c.*822T>C rs201472512
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.239T>G (p.Leu80Arg) rs1555187010
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.315-1112_0del
NM_003002.4(SDHD):c.315-3T>C rs1555187565
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.328_330GTT[1] (p.Val111del) rs1555187580
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.443G>T (p.Gly148Val) rs1555187633
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_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091
NM_003977.4(AIP):c.827C>T (p.Ala276Val) rs61741147
NM_004168.3(SDHA):c.-115-?_*280+?dup2390
NM_004168.3(SDHA):c.-115-?_1432+?dup1547
NM_004168.3(SDHA):c.-63G>A rs886060513
NM_004168.3(SDHA):c.1909-12_1909-11delCT rs372662724
NM_004168.4(SDHA):c.*133G>C rs193112615
NM_004168.4(SDHA):c.*13T>C rs1042476
NM_004168.4(SDHA):c.*189C>T rs185107377
NM_004168.4(SDHA):c.*75A>G rs886060517
NM_004168.4(SDHA):c.-1C>T rs560932680
NM_004168.4(SDHA):c.-5C>T rs572126995
NM_004168.4(SDHA):c.-7A>C rs751633537
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.1092C>T (p.Val364=) rs886060515
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.1274T>G (p.Val425Gly) rs200047573
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.1346C>T (p.Ala449Val) 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>A (p.Ala454Thr) rs1057517550
NM_004168.4(SDHA):c.1360G>T (p.Ala454Ser)
NM_004168.4(SDHA):c.1361C>A (p.Ala454Glu) rs1553999766
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu) rs144599870
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+16A>G rs753631065
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.1661G>A (p.Arg554Gln) rs376391115
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.269T>C (p.Val90Ala) rs886060514
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.441C>T (p.Pro147=) rs201453889
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.622-8T>C rs370714378
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.723C>T (p.Asp241=) rs146653693
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.770+12A>G rs201245536
NM_004168.4(SDHA):c.770+19_770+23del rs372913930
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_004285.4(H6PD):c.1358G>A (p.Arg453Gln) rs6688832
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369
NM_005149.3(TBX19):c.210G>T (p.Met70Ile) rs1558190316
NM_005149.3(TBX19):c.477G>C (p.Leu159Phe) rs1558190989
NM_006624.5(ZMYND11):c.117-4238T>A rs1057517548
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) rs730881705
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) rs730881690
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705
NM_007194.4(CHEK2):c.1375+3A>G rs876659868
NM_007194.4(CHEK2):c.1376-13A>G rs1064793330
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) rs149991239
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu) rs781678896
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) rs752302543
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) rs750984976
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194
NM_013335.4(GMPPA):c.108G>C (p.Met36Ile)
NM_013335.4(GMPPA):c.592T>C (p.Phe198Leu) rs773715630
NM_015074.3(KIF1B):c.*1049T>C rs189075267
NM_015074.3(KIF1B):c.*1104C>T rs886044995
NM_015074.3(KIF1B):c.*1117C>T rs182518399
NM_015074.3(KIF1B):c.*1134G>A rs763386544
NM_015074.3(KIF1B):c.*1363dupA rs567435289
NM_015074.3(KIF1B):c.*1715G>T rs755083691
NM_015074.3(KIF1B):c.*1997T>C rs886044997
NM_015074.3(KIF1B):c.*1999G>T rs886044998
NM_015074.3(KIF1B):c.*2019C>T rs185749715
NM_015074.3(KIF1B):c.*2032T>A rs190108168
NM_015074.3(KIF1B):c.*2268C>T rs574858597
NM_015074.3(KIF1B):c.*2379T>C rs886044999
NM_015074.3(KIF1B):c.*2412A>G rs886045000
NM_015074.3(KIF1B):c.*2567G>C rs750420134
NM_015074.3(KIF1B):c.*2687G>A rs886045001
NM_015074.3(KIF1B):c.*2743G>A rs886045002
NM_015074.3(KIF1B):c.*275_*280delCACACA rs111663673
NM_015074.3(KIF1B):c.*275_*280dupCACACA rs111663673
NM_015074.3(KIF1B):c.*277_*280delCACA rs111663673
NM_015074.3(KIF1B):c.*277_*280dupCACA rs111663673
NM_015074.3(KIF1B):c.*2786G>A rs886045003
NM_015074.3(KIF1B):c.*2798C>T rs369817908
NM_015074.3(KIF1B):c.*279_*280dupCA rs111663673
NM_015074.3(KIF1B):c.*281T>C rs201136295
NM_015074.3(KIF1B):c.*281_*282dupTA rs886044986
NM_015074.3(KIF1B):c.*281_*286delTACACA rs886044990
NM_015074.3(KIF1B):c.*2840G>A rs886045004
NM_015074.3(KIF1B):c.*2858G>C rs546229540
NM_015074.3(KIF1B):c.*2978dupG rs145348144
NM_015074.3(KIF1B):c.*3034C>T rs886045006
NM_015074.3(KIF1B):c.*3035G>A rs41301987
NM_015074.3(KIF1B):c.*305C>T rs886044992
NM_015074.3(KIF1B):c.*3146T>C rs886045007
NM_015074.3(KIF1B):c.*3202C>A rs886045008
NM_015074.3(KIF1B):c.*3386C>T rs765149352
NM_015074.3(KIF1B):c.*3418C>T rs559140260
NM_015074.3(KIF1B):c.*3639T>C rs551392566
NM_015074.3(KIF1B):c.*3644dupA rs775451005
NM_015074.3(KIF1B):c.*3697A>C rs762218807
NM_015074.3(KIF1B):c.*3716C>T rs756198031
NM_015074.3(KIF1B):c.*375A>G rs554239975
NM_015074.3(KIF1B):c.*3789C>T rs192963286
NM_015074.3(KIF1B):c.*3857G>A rs536529721
NM_015074.3(KIF1B):c.*3930C>T rs549049444
NM_015074.3(KIF1B):c.*3958A>G rs886045010
NM_015074.3(KIF1B):c.*4296T>C rs886045013
NM_015074.3(KIF1B):c.*4325G>A rs141688466
NM_015074.3(KIF1B):c.*456_*457delCT rs886044993
NM_015074.3(KIF1B):c.*4613G>A rs886045014
NM_015074.3(KIF1B):c.*4621C>T rs535976639
NM_015074.3(KIF1B):c.*4664_*4665insG rs571589510
NM_015074.3(KIF1B):c.*4697A>G rs886045015
NM_015074.3(KIF1B):c.*4742C>A rs775958997
NM_015074.3(KIF1B):c.*4919G>A rs886045016
NM_015074.3(KIF1B):c.*744C>A rs886044994
NM_015074.3(KIF1B):c.*839C>T rs549614550
NM_015074.3(KIF1B):c.-127G>A rs528568887
NM_015074.3(KIF1B):c.-146C>T </