ClinVar Miner

List of variants studied for adrenal gland disease by Invitae

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3733
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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_?)del
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.(?_161310384)_(161310445_?)dup
NC_000001.10:g.(?_161326457)_(161326640_?)del
NC_000001.10:g.(?_161326457)_(161332233_?)del
NC_000001.10:g.(?_161326457)_(161332233_?)dup
NC_000001.10:g.(?_161326461)_(161332229_?)dup
NC_000001.10:g.(?_161326467)_(161326630_?)del
NC_000001.10:g.(?_17345217)_(17345453_?)del
NC_000001.10:g.(?_17345217)_(17380665_?)dup
NC_000001.10:g.(?_17345366)_(17345463_?)del
NC_000001.10:g.(?_17345366)_(17380524_?)del
NC_000001.10:g.(?_17345366)_(17380524_?)dup
NC_000001.10:g.(?_17345370)_(17355237_?)dup
NC_000001.10:g.(?_17345370)_(17359646_?)del
NC_000001.10:g.(?_17345370)_(17371389_?)del
NC_000001.10:g.(?_17345376)_(17397986_?)del
NC_000001.10:g.(?_17359545)_(17359650_?)del
NC_000001.10:g.(?_17359545)_(17380524_?)dup
NC_000001.10:g.(?_17359549)_(17359646_?)del
NC_000001.10:g.(?_17371246)_(17371393_?)del
NC_000001.10:g.(?_17371246)_(17380524_?)dup
NC_000001.10:g.(?_17371256)_(17371383_?)del
NC_000001.10:g.(?_17380433)_(17380524_?)del
NC_000001.10:g.(?_17380437)_(17380520_?)del
NC_000002.11:g.(?_96919536)_(96931129_?)del
NC_000002.11:g.(?_96919536)_(96931129_?)dup
NC_000003.11:g.(?_10094061)_(10191659_?)del
NC_000003.11:g.(?_10094061)_(10191659_?)dup
NC_000003.11:g.(?_10106403)_(10191659_?)dup
NC_000003.11:g.(?_10183319)_(10183871_?)del
NC_000003.11:g.(?_10183522)_(10183881_?)del
NC_000003.11:g.(?_10183522)_(10191659_?)del
NC_000003.11:g.(?_10183526)_(10191655_?)dup
NC_000003.11:g.(?_10188188)_(10188330_?)del
NC_000003.11:g.(?_10188188)_(10188330_?)dup
NC_000003.11:g.(?_10188188)_(10191659_?)del
NC_000003.11:g.(?_10188198)_(10188320_?)del
NC_000003.11:g.(?_10191461)_(10191659_?)del
NC_000003.11:g.(?_10191461)_(10191659_?)dup
NC_000003.11:g.(?_10191471)_(10195354_?)dup
NC_000011.9:g.(?_111957622)_(111965704_?)del
NC_000011.9:g.(?_111957622)_(111965704_?)dup
NC_000011.9:g.(?_111959581)_(111965704_?)del
NC_000011.9:g.(?_111965519)_(111965704_?)del
NC_000011.9:g.(?_111965523)_(111965700_?)del
NC_000011.9:g.(?_61205087)_(61213553_?)dup
NC_000011.9:g.(?_64570986)_(64572288_?)del
NC_000011.9:g.(?_64570986)_(64577604_?)del
NC_000011.9:g.(?_64571796)_(64578188_?)del
NC_000011.9:g.(?_64577131)_(64577587_?)del
NC_000014.8:g.(?_65560420)_(65569063_?)del
NC_000014.8:g.(?_65568254)_(65569067_?)del
NC_000014.8:g.(?_65568264)_(65569262_?)del
NC_000017.10:g.(?_66508520)_(66526600_?)del
NC_000017.10:g.(?_66511525)_(66525142_?)del
NC_000017.10:g.(?_66511535)_(66526596_?)del
NC_000017.10:g.(?_7571720)_(7573008_?)del
NC_000017.10:g.(?_7572917)_(7579922_?)del
NC_000017.10:g.(?_7572917)_(7579922_?)dup
NC_000017.10:g.(?_7572917)_(7591611_?)del
NC_000017.10:g.(?_7572917)_(8285638_?)del
NC_000017.10:g.(?_7572921)_(7574039_?)del
NC_000017.10:g.(?_7572921)_(7579918_?)del
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_000017.10:g.(?_7590924)_(7591611_?)del
NC_000021.8:g.(?_45629566)_(46330717_?)dup
NC_000021.8:g.(?_45705870)_(45717630_?)del
NC_000021.8:g.(?_45713652)_(45717630_?)dup
NC_000023.10:g.(?_152954020)_(154096327_?)del
NC_000023.10:g.(?_152959340)_(153009209_?)del
NC_000023.10:g.(?_153005536)_(153005701_?)del
NC_000023.10:g.(?_153008421)_(153009209_?)del
NC_000023.10:g.(?_153008431)_(153009199_?)del
NC_000023.10:g.(?_153008655)_(153009209_?)del
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs) rs387906497
NM_000033.4(ABCD1):c.1047C>A (p.Val349=) rs185931852
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter) rs1569541000
NM_000033.4(ABCD1):c.1101_1108dup (p.Leu370fs)
NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter)
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys) rs781983308
NM_000033.4(ABCD1):c.1157C>G (p.Thr386Ser)
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
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.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter) rs1557054210
NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val) rs1432758988
NM_000033.4(ABCD1):c.1404G>A (p.Val468=) rs782072629
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) rs1569541035
NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter)
NM_000033.4(ABCD1):c.1467G>A (p.Val489=) rs782516659
NM_000033.4(ABCD1):c.146_159del (p.Pro49fs) rs1569540676
NM_000033.4(ABCD1):c.1489-1G>A
NM_000033.4(ABCD1):c.1489-6del rs398123101
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.1532G>A (p.Cys511Tyr) rs1557054745
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp) rs782370364
NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly) rs128624224
NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe) rs1159943880
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn) rs1569541092
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu)
NM_000033.4(ABCD1):c.1644G>A (p.Met548Ile) rs1569541112
NM_000033.4(ABCD1):c.1660dup (p.Arg554fs) rs1569541115
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs) rs1557052133
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.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.4(ABCD1):c.1780+2T>G rs1557054875
NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter)
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) rs1557055253
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly) rs1557055260
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.1866-1G>A rs1557055311
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
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.1902C>T (p.Ala634=) rs141110958
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly)
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp) rs1569541203
NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu) rs1557055340
NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter) rs1170974058
NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs) rs1557055392
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile) rs1557055398
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile)
NM_000033.4(ABCD1):c.2112G>A (p.Ala704=) rs372309740
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.2190G>A (p.Pro730=) rs193922096
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu) rs368462762
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.249C>T (p.Phe83=) rs782628755
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu) rs1557052294
NM_000033.4(ABCD1):c.298G>C (p.Ala100Pro)
NM_000033.4(ABCD1):c.311G>A (p.Arg104His) rs1557052302
NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg)
NM_000033.4(ABCD1):c.36del (p.Asn13fs)
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp)
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000033.4(ABCD1):c.408del (p.Gln136fs)
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.442A>T (p.Asn148Tyr) rs1557052362
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr) rs1569540692
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys) rs1569540693
NM_000033.4(ABCD1):c.471A>G (p.Gln157=) rs151148684
NM_000033.4(ABCD1):c.488G>A (p.Arg163His) rs1057517954
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.521A>G (p.Tyr174Cys) rs1557052390
NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs) rs1557052397
NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly)
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu) rs1569540703
NM_000033.4(ABCD1):c.638C>A (p.Ser213Tyr)
NM_000033.4(ABCD1):c.647C>T (p.Thr216Ile)
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.673A>G (p.Thr225Ala)
NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu) rs782723557
NM_000033.4(ABCD1):c.70del (p.Leu24fs) rs1557052171
NM_000033.4(ABCD1):c.723del (p.Trp242fs)
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.766_769dup (p.Val257fs) rs1557052530
NM_000033.4(ABCD1):c.773T>C (p.Leu258Pro) rs1569540731
NM_000033.4(ABCD1):c.794T>C (p.Phe265Ser)
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg)
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
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.887A>G (p.Tyr296Cys) rs797044610
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter)
NM_000033.4(ABCD1):c.988_1005del (p.Leu330_Met335del)
NM_000244.3(MEN1):c.-22C>A rs374749001
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.1008C>T (p.Asn336=) rs370176253
NM_000244.3(MEN1):c.100C>A (p.Leu34Met) rs771554497
NM_000244.3(MEN1):c.100C>T (p.Leu34=) rs771554497
NM_000244.3(MEN1):c.1014T>C (p.Asn338=) rs763133775
NM_000244.3(MEN1):c.1018C>A (p.Arg340=) rs371364206
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.1035C>A (p.Ala345=) rs1060503796
NM_000244.3(MEN1):c.1037G>A (p.Trp346Ter) rs1114167482
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.1041G>A (p.Ala347=) rs878855184
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.1047G>A (p.Thr349=) rs760183888
NM_000244.3(MEN1):c.1055T>A (p.Val352Asp)
NM_000244.3(MEN1):c.1064+1G>A rs1114167489
NM_000244.3(MEN1):c.1064+9C>A rs200517349
NM_000244.3(MEN1):c.1064+9C>G rs200517349
NM_000244.3(MEN1):c.1064+9C>T rs200517349
NM_000244.3(MEN1):c.1065-2A>G
NM_000244.3(MEN1):c.1065-2A>T rs1565642765
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.1086C>T (p.Asp362=) rs371964966
NM_000244.3(MEN1):c.1087_1089GAG[1] (p.Glu364del) rs1060499971
NM_000244.3(MEN1):c.1089G>A (p.Glu363=) rs776834299
NM_000244.3(MEN1):c.108_122dup (p.Leu37_Leu41dup) rs1555166695
NM_000244.3(MEN1):c.1095C>T (p.Ile365=) rs147331514
NM_000244.3(MEN1):c.1098C>T (p.Tyr366=) rs1168237114
NM_000244.3(MEN1):c.1102_1104del (p.Glu368del) rs869025185
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.113C>T (p.Ser38Phe) rs794728616
NM_000244.3(MEN1):c.1145A>G (p.Lys382Arg) rs766075737
NM_000244.3(MEN1):c.1146G>A (p.Lys382=) rs1555164674
NM_000244.3(MEN1):c.114C>G (p.Ser38=) rs1252317486
NM_000244.3(MEN1):c.1154C>G (p.Ala385Gly) rs1565642307
NM_000244.3(MEN1):c.115T>C (p.Leu39=) rs863224438
NM_000244.3(MEN1):c.1164G>A (p.Leu388=) rs1555164667
NM_000244.3(MEN1):c.1169C>T (p.Ala390Val) rs1298484645
NM_000244.3(MEN1):c.1170G>A (p.Ala390=) rs201091135
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.1182G>C (p.Arg394=) rs1194388602
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.1185G>A (p.Pro395=) rs587780841
NM_000244.3(MEN1):c.1185G>C (p.Pro395=) rs587780841
NM_000244.3(MEN1):c.1189G>T (p.Glu397Ter) rs772588551
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.1201-6G>A rs576193460
NM_000244.3(MEN1):c.1201-7C>T rs587780842
NM_000244.3(MEN1):c.1201-8del rs1555164452
NM_000244.3(MEN1):c.1201-9C>T rs1555164455
NM_000244.3(MEN1):c.1206C>T (p.Thr402=) rs1166154585
NM_000244.3(MEN1):c.1208dup (p.Ser404fs) rs1555164430
NM_000244.3(MEN1):c.1209G>C (p.Gln403His)
NM_000244.3(MEN1):c.1217G>T (p.Gly406Val) rs878855186
NM_000244.3(MEN1):c.1218T>C (p.Gly406=) rs878855187
NM_000244.3(MEN1):c.1221C>A (p.Ser407=) rs770037856
NM_000244.3(MEN1):c.1221C>T (p.Ser407=) rs770037856
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.1227C>G (p.Leu409=) rs577268289
NM_000244.3(MEN1):c.1228C>T (p.Gln410Ter) rs864622615
NM_000244.3(MEN1):c.1234C>G (p.Pro412Ala) rs1060499985
NM_000244.3(MEN1):c.1234_1235del (p.Asp411_Pro412insTer)
NM_000244.3(MEN1):c.1235_1236del (p.Pro412fs)
NM_000244.3(MEN1):c.1239_1240insGTCC (p.Cys414fs) rs1114167524
NM_000244.3(MEN1):c.1241G>A (p.Cys414Tyr) rs1060499988
NM_000244.3(MEN1):c.1245C>T (p.Phe415=) rs878855188
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.1258C>T (p.Arg420Ter) rs1060499974
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.1266C>T (p.Tyr422=) rs751481164
NM_000244.3(MEN1):c.1267G>A (p.Asp423Asn) rs104894264
NM_000244.3(MEN1):c.1268_1271del (p.Asp423fs)
NM_000244.3(MEN1):c.1269C>G (p.Asp423Glu)
NM_000244.3(MEN1):c.1269C>T (p.Asp423=) rs2071313
NM_000244.3(MEN1):c.1277G>A (p.Cys426Tyr) rs386134249
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.1302G>A (p.Thr434=) rs376598079
NM_000244.3(MEN1):c.1302G>T (p.Thr434=) rs376598079
NM_000244.3(MEN1):c.1311G>A (p.Leu437=) rs138770431
NM_000244.3(MEN1):c.1314C>T (p.His438=) rs540012
NM_000244.3(MEN1):c.1321T>A (p.Trp441Arg) rs104894259
NM_000244.3(MEN1):c.1323G>T (p.Trp441Cys) rs398124435
NM_000244.3(MEN1):c.1326del (p.Thr443fs)
NM_000244.3(MEN1):c.1329C>G (p.Thr443=) rs897481809
NM_000244.3(MEN1):c.132G>T (p.Val44=) rs1555166691
NM_000244.3(MEN1):c.1339C>T (p.Gln447Ter) rs794728654
NM_000244.3(MEN1):c.133G>A (p.Glu45Lys) rs1114167491
NM_000244.3(MEN1):c.1343C>A (p.Ser448Tyr) rs1060499981
NM_000244.3(MEN1):c.1348G>T (p.Gly450Cys) rs1555164153
NM_000244.3(MEN1):c.1349del (p.Gly450fs) rs1565640081
NM_000244.3(MEN1):c.134A>G (p.Glu45Gly)
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+1_1365+11del rs764570645
NM_000244.3(MEN1):c.1365+2T>C rs1555164115
NM_000244.3(MEN1):c.1365+5G>A rs1565639811
NM_000244.3(MEN1):c.1365+6G>A
NM_000244.3(MEN1):c.1366-10A>G rs757569943
NM_000244.3(MEN1):c.1366-1G>A rs794728629
NM_000244.3(MEN1):c.1366-1G>C rs794728629
NM_000244.3(MEN1):c.1366-2A>G rs1060499986
NM_000244.3(MEN1):c.1366-2_*132del rs1565634591
NM_000244.3(MEN1):c.1366-4C>T rs764408631
NM_000244.3(MEN1):c.1366-6G>A rs1555164004
NM_000244.3(MEN1):c.1366-8T>G rs751932519
NM_000244.3(MEN1):c.1366-9C>G
NM_000244.3(MEN1):c.1366_*820del (p.Val456fs)
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.1390_1397del (p.Ser464fs) rs1555163883
NM_000244.3(MEN1):c.1393C>A (p.Arg465=) rs104894267
NM_000244.3(MEN1):c.1393C>T (p.Arg465Ter) rs104894267
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.1397_1404dup (p.Ala469fs) rs1114167531
NM_000244.3(MEN1):c.1397_1419dup (p.Glu474fs) rs1555163780
NM_000244.3(MEN1):c.1401C>A (p.Ala467=) rs771827808
NM_000244.3(MEN1):c.1401C>G (p.Ala467=) rs771827808
NM_000244.3(MEN1):c.1401C>T (p.Ala467=) rs771827808
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.1407G>A (p.Ala469=) rs754445482
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.1410C>T (p.Ala470=) rs748820252
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.1415_1428del (p.Ala472fs)
NM_000244.3(MEN1):c.1416C>T (p.Ala472=) rs878855190
NM_000244.3(MEN1):c.1419G>A (p.Glu473=) rs755734265
NM_000244.3(MEN1):c.1421_1428dup (p.Gly477fs) rs1114167536
NM_000244.3(MEN1):c.1422_1436del (p.Pro475_Glu479del) rs1033303123
NM_000244.3(MEN1):c.1424C>T (p.Pro475Leu) rs750112288
NM_000244.3(MEN1):c.1425G>A (p.Pro475=) rs1060503795
NM_000244.3(MEN1):c.1427G>A (p.Trp476Ter) rs1060499991
NM_000244.3(MEN1):c.142del (p.Leu48fs) rs1555166681
NM_000244.3(MEN1):c.1431C>T (p.Gly477=) rs764509990
NM_000244.3(MEN1):c.1435del (p.Glu479fs)
NM_000244.3(MEN1):c.1439_1447del (p.Ala480_Glu482del)
NM_000244.3(MEN1):c.1443G>C (p.Arg481=) rs1555163730
NM_000244.3(MEN1):c.1444G>C (p.Glu482Gln) rs863224526
NM_000244.3(MEN1):c.1444G>T (p.Glu482Ter) rs863224526
NM_000244.3(MEN1):c.1446A>T (p.Glu482Asp) rs863224811
NM_000244.3(MEN1):c.1449C>T (p.Gly483=) rs200280309
NM_000244.3(MEN1):c.1451G>C (p.Arg484Pro) rs1555163716
NM_000244.3(MEN1):c.1458G>A (p.Arg486=) rs864622641
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.1473G>A (p.Glu491=) rs1413990417
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.1488G>A (p.Glu496=) rs1555163642
NM_000244.3(MEN1):c.1488del (p.Glu496fs) rs1555163646
NM_000244.3(MEN1):c.1493C>T (p.Pro498Leu) rs766604600
NM_000244.3(MEN1):c.1494G>A (p.Pro498=) rs546721780
NM_000244.3(MEN1):c.1496C>T (p.Pro499Leu) rs1060499993
NM_000244.3(MEN1):c.1497G>A (p.Pro499=) rs773363654
NM_000244.3(MEN1):c.1507C>G (p.Pro503Ala)
NM_000244.3(MEN1):c.1509A>T (p.Pro503=) rs1037335560
NM_000244.3(MEN1):c.1521G>C (p.Lys507Asn) rs774296730
NM_000244.3(MEN1):c.1523G>A (p.Gly508Asp) rs375804228
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.1533C>T (p.Thr511=) rs749265222
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.153C>T (p.Asn51=) rs1555166669
NM_000244.3(MEN1):c.1541G>T (p.Gly514Val) rs769355346
NM_000244.3(MEN1):c.1550C>G (p.Ser517Ter) rs141679530
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.1560C>A (p.Pro520=) rs1555163491
NM_000244.3(MEN1):c.1561C>G (p.Arg521Gly)
NM_000244.3(MEN1):c.1561del (p.Arg521fs) rs767319284
NM_000244.3(MEN1):c.1561dup (p.Arg521fs) rs767319284
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.1593C>A (p.Ala531=) rs767655504
NM_000244.3(MEN1):c.1594C>T (p.Arg532Ter) rs104894261
NM_000244.3(MEN1):c.1598G>A (p.Gly533Asp) rs1555163392
NM_000244.3(MEN1):c.15C>A (p.Ala5=) rs757821521
NM_000244.3(MEN1):c.1609G>T (p.Gly537Cys) rs587780843
NM_000244.3(MEN1):c.1623G>A (p.Gln541=) rs1055457298
NM_000244.3(MEN1):c.1625T>G (p.Val542Gly)
NM_000244.3(MEN1):c.162C>T (p.Ile54=) rs1555166662
NM_000244.3(MEN1):c.1633C>T (p.Pro545Ser) rs745404679
NM_000244.3(MEN1):c.1636G>A (p.Ala546Thr) rs2959656
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.1650G>A (p.Pro550=) rs1349729840
NM_000244.3(MEN1):c.1652C>T (p.Pro551Leu) rs779413959
NM_000244.3(MEN1):c.1653G>A (p.Pro551=) rs368783097
NM_000244.3(MEN1):c.1655A>G (p.Glu552Gly) rs914488914
NM_000244.3(MEN1):c.1656G>A (p.Glu552=) rs1555163295
NM_000244.3(MEN1):c.165T>A (p.Pro55=) rs1060503790
NM_000244.3(MEN1):c.1663G>C (p.Val555Leu)
NM_000244.3(MEN1):c.1671T>C (p.Thr557=) rs143423552
NM_000244.3(MEN1):c.1675C>T (p.Gln559Ter) rs794728631
NM_000244.3(MEN1):c.1679G>A (p.Ser560Asn) rs863224527
NM_000244.3(MEN1):c.1685del (p.Lys562fs)
NM_000244.3(MEN1):c.1689dup (p.Lys564fs) rs1565635941
NM_000244.3(MEN1):c.168del (p.Asn57fs) rs1060499990
NM_000244.3(MEN1):c.16G>T (p.Ala6Ser) rs966793401
NM_000244.3(MEN1):c.1707G>T (p.Leu569=) rs367581776
NM_000244.3(MEN1):c.1710G>T (p.Leu570=) rs767677287
NM_000244.3(MEN1):c.1716C>T (p.Ala572=) rs757417271
NM_000244.3(MEN1):c.1754del (p.Thr585fs) rs864622617
NM_000244.3(MEN1):c.1755G>C (p.Thr585=) rs1114167530
NM_000244.3(MEN1):c.175C>G (p.Pro59Ala) rs1352823623
NM_000244.3(MEN1):c.1764G>C (p.Ser588=) rs765105348
NM_000244.3(MEN1):c.1769T>G (p.Val590Gly)
NM_000244.3(MEN1):c.176C>G (p.Pro59Arg)
NM_000244.3(MEN1):c.1773G>A (p.Gln591=) rs759563305
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.1779G>A (p.Lys593=) rs373669288
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.1794C>T (p.Ser598=) rs1157546350
NM_000244.3(MEN1):c.1811_1812CT[1] (p.Leu605fs) rs1555163017
NM_000244.3(MEN1):c.1815G>T (p.Leu605=) rs148825200
NM_000244.3(MEN1):c.1821C>T (p.Phe607=) rs1060503794
NM_000244.3(MEN1):c.183C>A (p.Leu61=) rs1555166622
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.18C>T (p.Ala6=) rs369348210
NM_000244.3(MEN1):c.191_195AGCCC[3] (p.Asp70fs) rs1555166609
NM_000244.3(MEN1):c.193C>A (p.Pro65Thr) rs1235900915
NM_000244.3(MEN1):c.195C>A (p.Pro65=) rs1438097332
NM_000244.3(MEN1):c.197_201GCCCC[3] (p.Asp70fs) rs730882136
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000244.3(MEN1):c.1A>T (p.Met1Leu) rs386134250
NM_000244.3(MEN1):c.201C>T (p.Pro67=) rs1060503791
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.211_212del (p.Pro71fs) rs386134251
NM_000244.3(MEN1):c.215C>A (p.Pro72His)
NM_000244.3(MEN1):c.231C>G (p.Tyr77Ter) rs1555166567
NM_000244.3(MEN1):c.236C>G (p.Pro79Arg) rs1555166557
NM_000244.3(MEN1):c.236C>T (p.Pro79Leu)
NM_000244.3(MEN1):c.237del (p.Val80fs) rs1114167486
NM_000244.3(MEN1):c.240G>T (p.Val80=) rs1555166545
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.249_252del (p.Ile85fs) rs587776841
NM_000244.3(MEN1):c.252_253insTT (p.Ile85fs) rs386134253
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.280_284dup (p.Gln96fs) rs1555166494
NM_000244.3(MEN1):c.281C>T (p.Thr94Ile) rs1565651820
NM_000244.3(MEN1):c.282C>T (p.Thr94=) rs760442763
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.300C>G (p.Ala100=) rs773136972
NM_000244.3(MEN1):c.303C>T (p.Val101=) rs1463347315
NM_000244.3(MEN1):c.307C>T (p.Leu103=) rs1313314117
NM_000244.3(MEN1):c.307del (p.Leu103fs) rs794728639
NM_000244.3(MEN1):c.30G>T (p.Leu10=) rs371192390
NM_000244.3(MEN1):c.317A>G (p.Tyr106Cys) rs1555166469
NM_000244.3(MEN1):c.317_318del (p.Tyr106fs) rs1555166466
NM_000244.3(MEN1):c.318T>A (p.Tyr106Ter) rs1060499987
NM_000244.3(MEN1):c.322C>G (p.Arg108Gly)
NM_000244.3(MEN1):c.322C>T (p.Arg108Ter) rs794728647
NM_000244.3(MEN1):c.322_323insT (p.Arg108fs) rs1565651568
NM_000244.3(MEN1):c.323del (p.Arg108fs) rs878855191
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.330G>C (p.Gly110=) rs1060503792
NM_000244.3(MEN1):c.333T>C (p.Gly111=) rs1555166432
NM_000244.3(MEN1):c.339C>T (p.Ser113=) rs559635859
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.345T>C (p.Arg115=) rs748948131
NM_000244.3(MEN1):c.346G>T (p.Glu116Ter) rs1060499992
NM_000244.3(MEN1):c.352G>A (p.Val118Met) rs1060499975
NM_000244.3(MEN1):c.355_357AAG[1] (p.Lys120del) rs794728657
NM_000244.3(MEN1):c.358A>T (p.Lys120Ter) rs878855192
NM_000244.3(MEN1):c.35C>T (p.Pro12Leu) rs794728614
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.369T>C (p.Asp123=) rs1555166369
NM_000244.3(MEN1):c.375A>C (p.Ile125=) rs184896922
NM_000244.3(MEN1):c.375A>T (p.Ile125=) rs184896922
NM_000244.3(MEN1):c.378G>A (p.Trp126Ter) rs1555166365
NM_000244.3(MEN1):c.386del (p.Leu129fs) rs1565651223
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.3G>A (p.Met1Ile) rs786204242
NM_000244.3(MEN1):c.402del (p.Phe134fs) rs397515385
NM_000244.3(MEN1):c.403A>C (p.Lys135Gln) rs121913034
NM_000244.3(MEN1):c.406_415delinsTCCCT (p.Asp136fs)
NM_000244.3(MEN1):c.40C>T (p.Arg14Cys)
NM_000244.3(MEN1):c.418A>T (p.Ile140Phe) rs376510601
NM_000244.3(MEN1):c.421C>T (p.Gln141Ter) rs886039553
NM_000244.3(MEN1):c.426C>T (p.Ser142=) rs753252650
NM_000244.3(MEN1):c.435C>T (p.Ser145=) rs61736636
NM_000244.3(MEN1):c.441C>T (p.Ile147=) rs878855193
NM_000244.3(MEN1):c.461-1G>C
NM_000244.3(MEN1):c.461-2A>G rs886042035
NM_000244.3(MEN1):c.461-3C>A rs377461506
NM_000244.3(MEN1):c.461-9C>A rs1371109251
NM_000244.3(MEN1):c.473A>T (p.Asp158Val) rs1565648789
NM_000244.3(MEN1):c.480C>T (p.Ser160=) rs936786553
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.486G>A (p.Val162=) rs878855194
NM_000244.3(MEN1):c.488C>A (p.Ala163Asp) rs794728617
NM_000244.3(MEN1):c.488C>T (p.Ala163Val)
NM_000244.3(MEN1):c.489C>T (p.Ala163=) rs772526802
NM_000244.3(MEN1):c.48C>T (p.Ile16=) rs1060503797
NM_000244.3(MEN1):c.493G>C (p.Ala165Pro) rs1565648656
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.507C>T (p.Ala169=) rs146759807
NM_000244.3(MEN1):c.509G>A (p.Cys170Tyr) rs1057521111
NM_000244.3(MEN1):c.510C>A (p.Cys170Ter)
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.528G>C (p.Arg176=) rs560870111
NM_000244.3(MEN1):c.540C>T (p.Leu180=) rs200155578
NM_000244.3(MEN1):c.541G>C (p.Ala181Pro) rs376872829
NM_000244.3(MEN1):c.541G>T (p.Ala181Ser) rs376872829
NM_000244.3(MEN1):c.544C>G (p.Leu182Val)
NM_000244.3(MEN1):c.546G>A (p.Leu182=) rs146568011
NM_000244.3(MEN1):c.54C>T (p.Asp18=) rs1316973259
NM_000244.3(MEN1):c.552_553delinsTT (p.Glu184_Asp185delinsAspTyr) rs1555165809
NM_000244.3(MEN1):c.563G>A (p.Trp188Ter) rs794728650
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.578_579del (p.Pro193fs) rs1555165756
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.585G>A (p.Gly195=) rs547249181
NM_000244.3(MEN1):c.593C>G (p.Thr198Arg)
NM_000244.3(MEN1):c.5G>A (p.Gly2Glu)
NM_000244.3(MEN1):c.600G>A (p.Glu200=) rs864622177
NM_000244.3(MEN1):c.605C>T (p.Thr202Ile)
NM_000244.3(MEN1):c.606C>G (p.Thr202=) rs527294715
NM_000244.3(MEN1):c.609G>A (p.Trp203Ter) rs104894257
NM_000244.3(MEN1):c.60G>C (p.Val20=) rs776432516
NM_000244.3(MEN1):c.612C>A (p.His204Gln) rs150512958
NM_000244.3(MEN1):c.612C>T (p.His204=) 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.624C>T (p.Asn208=) rs749844029
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.636G>A (p.Arg212=) rs779966911
NM_000244.3(MEN1):c.638_1065-143del
NM_000244.3(MEN1):c.640C>T (p.Gln214Ter) rs1565647767
NM_000244.3(MEN1):c.642G>C (p.Gln214His) rs1565647751
NM_000244.3(MEN1):c.643_646del (p.Thr215fs) rs794728640
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.648del (p.Asn217fs) rs878855196
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.654C>T (p.Ala218=) rs746067825
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+10C>T rs921850475
NM_000244.3(MEN1):c.669+1G>T rs794728622
NM_000244.3(MEN1):c.669+9C>A rs202134234
NM_000244.3(MEN1):c.669+9C>G rs202134234
NM_000244.3(MEN1):c.669+9C>T rs202134234
NM_000244.3(MEN1):c.670-15_673del
NM_000244.3(MEN1):c.670-1G>A
NM_000244.3(MEN1):c.670-4del rs748005956
NM_000244.3(MEN1):c.670-5C>G rs752563214
NM_000244.3(MEN1):c.670-5dupC rs772016629
NM_000244.3(MEN1):c.670-6C>A rs77461664
NM_000244.3(MEN1):c.670-6C>G rs77461664
NM_000244.3(MEN1):c.670-6C>T 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.674G>A (p.Trp225Ter) rs1565647197
NM_000244.3(MEN1):c.675G>T (p.Trp225Cys)
NM_000244.3(MEN1):c.680A>C (p.Tyr227Ser) rs1555165601
NM_000244.3(MEN1):c.696C>A (p.Tyr232Ter) rs778921501
NM_000244.3(MEN1):c.697A>G (p.Met233Val) rs1060499982
NM_000244.3(MEN1):c.700C>T (p.Arg234Cys) rs754378887
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.726G>A (p.Ala242=) rs144677807
NM_000244.3(MEN1):c.735G>T (p.Val245=) rs1555165534
NM_000244.3(MEN1):c.736T>C (p.Cys246Arg)
NM_000244.3(MEN1):c.737G>A (p.Cys246Tyr) rs794728624
NM_000244.3(MEN1):c.741C>T (p.Ala247=) rs1198651608
NM_000244.3(MEN1):c.744C>T (p.Ile248=) rs1353237754
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.754_760del (p.Ile252fs) rs1555165503
NM_000244.3(MEN1):c.761_764dup (p.Thr256fs)
NM_000244.3(MEN1):c.768C>T (p.Thr256=) rs763326062
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.773del (p.Ser258fs)
NM_000244.3(MEN1):c.774G>A (p.Ser258=) rs201829546
NM_000244.3(MEN1):c.774G>T (p.Ser258=) rs201829546
NM_000244.3(MEN1):c.777G>A (p.Leu259=) rs199909967
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.787C>T (p.Gln263Ter) rs886039416
NM_000244.3(MEN1):c.789G>C (p.Gln263His) rs374659656
NM_000244.3(MEN1):c.796C>T (p.Gln266Ter) rs1057520733
NM_000244.3(MEN1):c.798+1G>A rs794728652
NM_000244.3(MEN1):c.798+7G>A rs1060503793
NM_000244.3(MEN1):c.799-10C>A rs71526470
NM_000244.3(MEN1):c.799-10C>T rs71526470
NM_000244.3(MEN1):c.799-1G>C rs1555165377
NM_000244.3(MEN1):c.799-9G>A rs794728625
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.810G>A (p.Trp270Ter)
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.834G>T (p.Leu278=) rs748369241
NM_000244.3(MEN1):c.838A>G (p.Arg280Gly)
NM_000244.3(MEN1):c.838del (p.Arg280fs) rs1555165360
NM_000244.3(MEN1):c.839+1G>T rs1060499976
NM_000244.3(MEN1):c.839G>A (p.Arg280Lys)
NM_000244.3(MEN1):c.840-10C>G rs999121619
NM_000244.3(MEN1):c.840-8T>C rs1555165330
NM_000244.3(MEN1):c.842A>G (p.Tyr281Cys) rs1555165327
NM_000244.3(MEN1):c.843C>A (p.Tyr281Ter) rs1060503789
NM_000244.3(MEN1):c.843C>T (p.Tyr281=) rs1060503789
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.852C>T (p.Ala284=) rs762092675
NM_000244.3(MEN1):c.854T>C (p.Leu285Ser)
NM_000244.3(MEN1):c.858G>C (p.Gly286=) rs562620826
NM_000244.3(MEN1):c.85C>T (p.Arg29Ter) rs794728615
NM_000244.3(MEN1):c.866C>A (p.Ala289Glu) rs1565645563
NM_000244.3(MEN1):c.871C>T (p.Leu291=) rs542321016
NM_000244.3(MEN1):c.87A>C (p.Arg29=) rs1198070818
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.924C>T (p.His308=) rs878855200
NM_000244.3(MEN1):c.927+1G>C rs398124437
NM_000244.3(MEN1):c.927+5G>A
NM_000244.3(MEN1):c.928-2A>G rs1114167498
NM_000244.3(MEN1):c.928-4C>T rs770413697
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.936C>T (p.Ala312=) rs1060503788
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.955_1065-227del rs1555164870
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.978C>T (p.Tyr326=) rs1555165094
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.984C>A (p.Tyr328Ter) rs750904332
NM_000244.3(MEN1):c.984C>G (p.Tyr328Ter) rs750904332
NM_000244.3(MEN1):c.987G>A (p.Leu329=)
NM_000244.3(MEN1):c.989C>A (p.Ala330Asp) rs370840265
NM_000244.3(MEN1):c.993C>T (p.Gly331=) rs1555165071
NM_000244.3(MEN1):c.995A>G (p.Tyr332Cys)
NM_000244.3(MEN1):c.997C>A (p.His333Asn)
NM_000244.3(MEN1):c.997C>G (p.His333Asp) rs794727882
NM_000319.4(PEX5):c.1612C>T (p.Arg538Cys)
NM_000319.4(PEX5):c.164G>T (p.Gly55Val)
NM_000319.4(PEX5):c.361G>T (p.Glu121Ter) rs1565673352
NM_000319.4(PEX5):c.815T>C (p.Met272Thr) rs76708142
NM_000383.3(AIRE):c.1278+1delG rs996389327
NM_000383.4(AIRE):c.1063C>A (p.Pro355Thr) rs1405678537
NM_000383.4(AIRE):c.1065C>T (p.Pro355=) rs201551372
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.1083C>G (p.Pro361=) rs201010030
NM_000383.4(AIRE):c.1083C>T (p.Pro361=) rs201010030
NM_000383.4(AIRE):c.1084G>T (p.Val362Leu) rs763954225
NM_000383.4(AIRE):c.1095+2T>C
NM_000383.4(AIRE):c.1096-9G>C rs113512196
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.1203T>C (p.Pro401=) rs61737072
NM_000383.4(AIRE):c.1207G>A (p.Ala403Thr) rs543891914
NM_000383.4(AIRE):c.1215G>A (p.Pro405=) rs72650676
NM_000383.4(AIRE):c.1243C>T (p.His415Tyr)
NM_000383.4(AIRE):c.1244A>G (p.His415Arg)
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1273C>T (p.Gln425Ter)
NM_000383.4(AIRE):c.1296G>A (p.Ala432=) rs144359012
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg) rs373993732
NM_000383.4(AIRE):c.132+1_132+3delinsCT rs886041293
NM_000383.4(AIRE):c.1327G>A (p.Val443Met)
NM_000383.4(AIRE):c.1334G>A (p.Arg445Gln)
NM_000383.4(AIRE):c.1344C>T (p.His448=) rs201131119
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.1404G>A (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1404G>C (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920
NM_000383.4(AIRE):c.143_145del (p.His48del)
NM_000383.4(AIRE):c.1454A>T (p.Glu485Val)
NM_000383.4(AIRE):c.1476C>T (p.Pro492=) rs72650679
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.1483C>T (p.Leu495=) rs376909088
NM_000383.4(AIRE):c.1505A>T (p.Asp502Val)
NM_000383.4(AIRE):c.1563C>T (p.Ser521=)
NM_000383.4(AIRE):c.1566+8C>T rs72650680
NM_000383.4(AIRE):c.1567-1G>A
NM_000383.4(AIRE):c.1567-5C>T rs192215705
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889
NM_000383.4(AIRE):c.166C>T (p.Pro56Ser)
NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer)
NM_000383.4(AIRE):c.226G>A (p.Asp76Asn) rs146810389
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) rs179363880
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) rs142788946
NM_000383.4(AIRE):c.347C>T (p.Pro116Leu)
NM_000383.4(AIRE):c.348G>A (p.Pro116=) rs74162060
NM_000383.4(AIRE):c.352G>A (p.Val118Ile)
NM_000383.4(AIRE):c.353T>A (p.Val118Asp)
NM_000383.4(AIRE):c.426G>A (p.Ala142=) rs748305262
NM_000383.4(AIRE):c.469C>T (p.Gln157Ter) rs1488613451
NM_000383.4(AIRE):c.478G>A (p.Ala160Thr) rs1568926733
NM_000383.4(AIRE):c.485C>T (p.Pro162Leu)
NM_000383.4(AIRE):c.489dup (p.Lys164fs)
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu) rs11910214
NM_000383.4(AIRE):c.520C>T (p.Arg174Cys)
NM_000383.4(AIRE):c.538+3G>A
NM_000383.4(AIRE):c.538G>A (p.Gly180Arg)
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn) rs34219046
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.595G>A (p.Val199Ile) rs74162061
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu)
NM_000383.4(AIRE):c.600G>A (p.Pro200=) rs754331960
NM_000383.4(AIRE):c.63C>T (p.Ala21=) rs371796437
NM_000383.4(AIRE):c.652+14C>T rs41277546
NM_000383.4(AIRE):c.652+1G>T rs199612115
NM_000383.4(AIRE):c.652+2T>C rs1555872272
NM_000383.4(AIRE):c.653-5C>T rs771182213
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.717C>T (p.Ser239=) rs149130190
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615
NM_000383.4(AIRE):c.766G>A (p.Val256Ile)
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254
NM_000383.4(AIRE):c.794C>T (p.Ala265Val)
NM_000383.4(AIRE):c.798+1G>A rs138489664
NM_000383.4(AIRE):c.798+5G>A rs1490186498
NM_000383.4(AIRE):c.798C>T (p.Pro266=) rs41277550
NM_000383.4(AIRE):c.816G>T (p.Arg272Ser) rs1568927979
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878
NM_000383.4(AIRE):c.860G>A (p.Ser287Asn)
NM_000383.4(AIRE):c.925A>G (p.Ile309Val) rs936714310
NM_000383.4(AIRE):c.947G>A (p.Arg316Gln)
NM_000383.4(AIRE):c.958del (p.Leu320fs) rs1568928525
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.983G>A (p.Arg328Gln)
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter) rs1555973131
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter)
NM_000475.5(NR0B1):c.552del (p.Glu185fs) rs1555973115
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter) rs1555973010
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter) rs1324519932
NM_000546.5(TP53):c.-202_*1207del
NM_000546.5(TP53):c.-202_-29+?del
NM_000546.5(TP53):c.-202_-29+?dup174
NM_000546.5(TP53):c.1000G>C (p.Gly334Arg) rs730882028
NM_000546.5(TP53):c.1003C>T (p.Arg335Cys) rs375444154
NM_000546.5(TP53):c.1004G>A (p.Arg335His) rs771939956
NM_000546.5(TP53):c.1009C>G (p.Arg337Gly) rs587782529
NM_000546.5(TP53):c.1009C>T (p.Arg337Cys) 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.1010G>A (p.Arg337His) rs121912664
NM_000546.5(TP53):c.1014C>T (p.Phe338=) rs150293825
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.1015G>T (p.Glu339Ter) rs17882252
NM_000546.5(TP53):c.1023C>T (p.Phe341=) rs864622369
NM_000546.5(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.5(TP53):c.1025G>A (p.Arg342Gln) rs375338359
NM_000546.5(TP53):c.1025G>C (p.Arg342Pro) rs375338359
NM_000546.5(TP53):c.102C>G (p.Pro34=) rs11575998
NM_000546.5(TP53):c.1032G>A (p.Leu344=) rs752189180
NM_000546.5(TP53):c.1032G>C (p.Leu344=) rs752189180
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.1043_1051delinsG (p.Leu348_Lys351delinsTer) rs1567541951
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.1060C>T (p.Gln354Ter) rs755394212
NM_000546.5(TP53):c.1064C>T (p.Ala355Val) rs1555524382
NM_000546.5(TP53):c.1066G>C (p.Gly356Arg) rs766786605
NM_000546.5(TP53):c.1073A>T (p.Glu358Val) rs773553186
NM_000546.5(TP53):c.1079G>A (p.Gly360Glu) rs35993958
NM_000546.5(TP53):c.1079G>C (p.Gly360Ala) 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.108G>A (p.Pro36=) rs1800370
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.1096T>G (p.Ser366Ala) rs17881470
NM_000546.5(TP53):c.1100+10C>A rs374041625
NM_000546.5(TP53):c.1100+10C>T rs374041625
NM_000546.5(TP53):c.1100+5G>A
NM_000546.5(TP53):c.1100+7G>A rs777374791
NM_000546.5(TP53):c.1100+8A>G rs878854062
NM_000546.5(TP53):c.1101-1G>A rs876658982
NM_000546.5(TP53):c.1101-2A>G rs587781664
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.111C>T (p.Ser37=) rs1555526798
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.112del (p.Gln38fs) rs1555526795
NM_000546.5(TP53):c.1134C>T (p.Ser378=) rs1060504165
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.1149C>T (p.Leu383=) rs373710656
NM_000546.5(TP53):c.1150A>G (p.Met384Val) rs730882009
NM_000546.5(TP53):c.1151T>C (p.Met384Thr) rs1060501196
NM_000546.5(TP53):c.1151T>G (p.Met384Arg) rs1060501196
NM_000546.5(TP53):c.1152G>A (p.Met384Ile)
NM_000546.5(TP53):c.1160del (p.Thr387fs)
NM_000546.5(TP53):c.1163A>C (p.Glu388Ala) rs587781736
NM_000546.5(TP53):c.1165G>A (p.Gly389Arg) rs587783064
NM_000546.5(TP53):c.116C>T (p.Ala39Val) rs1353016807
NM_000546.5(TP53):c.1177del (p.Asp393fs) rs1555524083
NM_000546.5(TP53):c.1180T>A (p.Ter394Arg)
NM_000546.5(TP53):c.1182A>T (p.Ter394Cys) rs1555524074
NM_000546.5(TP53):c.118A>G (p.Met40Val)
NM_000546.5(TP53):c.11C>G (p.Pro4Arg) rs878854064
NM_000546.5(TP53):c.11C>T (p.Pro4Leu) rs878854064
NM_000546.5(TP53):c.121G>A (p.Asp41Asn) rs1555526789
NM_000546.5(TP53):c.123T>C (p.Asp41=) rs369129220
NM_000546.5(TP53):c.127T>A (p.Leu43Met)
NM_000546.5(TP53):c.12G>A (p.Pro4=) rs876658274
NM_000546.5(TP53):c.132G>A (p.Met44Ile) rs1060501190
NM_000546.5(TP53):c.133C>G (p.Leu45Val)
NM_000546.5(TP53):c.135G>A (p.Leu45=) rs1060504164
NM_000546.5(TP53):c.137C>A (p.Ser46Tyr)
NM_000546.5(TP53):c.139C>A (p.Pro47Thr) rs1800371
NM_000546.5(TP53):c.139C>T (p.Pro47Ser) rs1800371
NM_000546.5(TP53):c.140del (p.Pro47fs) rs1567557016
NM_000546.5(TP53):c.141G>A (p.Pro47=) rs201741778
NM_000546.5(TP53):c.144C>A (p.Asp48Glu) rs587781460
NM_000546.5(TP53):c.144C>T (p.Asp48=) 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.147T>C (p.Asp49=) rs786201148
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.151G>T (p.Glu51Ter) rs1567556930
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.155_156del (p.Gln52fs) rs1555526750
NM_000546.5(TP53):c.156dup (p.Trp53fs) rs1555526748
NM_000546.5(TP53):c.158G>A (p.Trp53Ter) rs876658483
NM_000546.5(TP53):c.168A>G (p.Glu56=) rs574255227
NM_000546.5(TP53):c.173C>G (p.Pro58Arg) rs144386518
NM_000546.5(TP53):c.174A>G (p.Pro58=) rs1060504166
NM_000546.5(TP53):c.180A>C (p.Pro60=) rs749289195
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.18A>C (p.Ser6=) rs573130482
NM_000546.5(TP53):c.18A>G (p.Ser6=) rs573130482
NM_000546.5(TP53):c.192C>G (p.Pro64=) rs1555526723
NM_000546.5(TP53):c.194G>C (p.Arg65Thr) rs1060501210
NM_000546.5(TP53):c.196dup (p.Met66fs)
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.207T>C (p.Ala69=) rs775185978
NM_000546.5(TP53):c.210T>A (p.Ala70=) rs786203513
NM_000546.5(TP53):c.210T>C (p.Ala70=) rs786203513
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.215_216delinsGT (p.Pro72Arg) rs878854066
NM_000546.5(TP53):c.216C>T (p.Pro72=) rs56275308
NM_000546.5(TP53):c.216dup (p.Val73fs) rs730882018
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.222C>T (p.Ala74=) rs786201577
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.246G>A (p.Pro82=) rs372397095
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.250del (p.Ala84fs)
NM_000546.5(TP53):c.255T>C (p.Pro85=) rs775515332
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.264C>T (p.Ala88=) rs876660951
NM_000546.5(TP53):c.266C>T (p.Pro89Leu) rs730881994
NM_000546.5(TP53):c.267C>A (p.Pro89=) rs786201443
NM_000546.5(TP53):c.267C>T (p.Pro89=) rs786201443
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.270C>T (p.Ser90=) rs863224370
NM_000546.5(TP53):c.273G>A (p.Trp91Ter) rs876660548
NM_000546.5(TP53):c.275C>T (p.Pro92Leu) rs1210700121
NM_000546.5(TP53):c.279G>T (p.Leu93=) rs878854067
NM_000546.5(TP53):c.27C>T (p.Ser9=) rs757282628
NM_000546.5(TP53):c.282A>G (p.Ser94=) rs771721337
NM_000546.5(TP53):c.283_285TCT[1] (p.Ser96del) rs878854068
NM_000546.5(TP53):c.283_375+21del114 rs1555526462
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.295del (p.Ser99fs) rs1555526593
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.297C>T (p.Ser99=) rs751494750
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.30C>G (p.Val10=) rs568171603
NM_000546.5(TP53):c.30C>T (p.Val10=) rs568171603
NM_000546.5(TP53):c.310C>T (p.Gln104Ter) rs1567555934
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.321C>A (p.Tyr107Ter) rs770776262
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.323_329dup (p.Leu111fs) rs1131691004
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.329G>C (p.Arg110Pro) rs11540654
NM_000546.5(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.5(TP53):c.329_330delinsCC (p.Arg110Pro)
NM_000546.5(TP53):c.330T>C (p.Arg110=) rs1060504167
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.342dup (p.His115fs)
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.351G>A (p.Gly117=) rs876658998
NM_000546.5(TP53):c.353C>T (p.Thr118Ile) rs1064794141
NM_000546.5(TP53):c.354A>T (p.Thr118=) rs751978853
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.363_364TG[1] (p.Val122fs) rs587780067
NM_000546.5(TP53):c.364G>A (p.Val122Met) rs587781495
NM_000546.5(TP53):c.372C>A (p.Cys124Ter) rs1555526478
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.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.375+1G>C
NM_000546.5(TP53):c.375+1G>T
NM_000546.5(TP53):c.375+1_375+5dup rs1555526468
NM_000546.5(TP53):c.375+2T>A rs1555526469
NM_000546.5(TP53):c.375+2T>C rs1555526469
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.375G>A (p.Thr125=) rs55863639
NM_000546.5(TP53):c.375G>T (p.Thr125=) rs55863639
NM_000546.5(TP53):c.376-1G>A rs868137297
NM_000546.5(TP53):c.376-2A>G rs786202799
NM_000546.5(TP53):c.376-2A>T rs786202799
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.378C>G (p.Tyr126Ter) rs1567554500
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.383del (p.Pro128fs)
NM_000546.5(TP53):c.386C>G (p.Ala129Gly) rs137852792
NM_000546.5(TP53):c.388C>G (p.Leu130Val) rs863224683
NM_000546.5(TP53):c.388C>T (p.Leu130Phe) rs863224683
NM_000546.5(TP53):c.38C>T (p.Pro13Leu) rs878854070
NM_000546.5(TP53):c.392A>T (p.Asn131Ile) rs1131691037
NM_000546.5(TP53):c.393C>A (p.Asn131Lys) rs769270327
NM_000546.5(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.5(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_000546.5(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.5(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.5(TP53):c.396G>T (p.Lys132Asn) rs866775781
NM_000546.5(TP53):c.397A>G (p.Met133Val) rs1057280220
NM_000546.5(TP53):c.400T>C (p.Phe134Leu)
NM_000546.5(TP53):c.403T>A (p.Cys135Ser) rs1057519975
NM_000546.5(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.5(TP53):c.407A>C (p.Gln136Pro) rs1567554216
NM_000546.5(TP53):c.408A>C (p.Gln136His) rs758781593
NM_000546.5(TP53):c.408A>G (p.Gln136=) rs758781593
NM_000546.5(TP53):c.40C>G (p.Leu14Val) rs1567558112
NM_000546.5(TP53):c.412G>C (p.Ala138Pro) rs28934875
NM_000546.5(TP53):c.413C>A (p.Ala138Asp) rs750600586
NM_000546.5(TP53):c.413C>T (p.Ala138Val) rs750600586
NM_000546.5(TP53):c.415A>G (p.Lys139Glu)
NM_000546.5(TP53):c.418A>G (p.Thr140Ala)
NM_000546.5(TP53):c.422G>A (p.Cys141Tyr) rs587781288
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.438G>A (p.Trp146Ter) rs1131691026
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.448_460del (p.Thr150fs) rs1064792930
NM_000546.5(TP53):c.450A>G (p.Thr150=) rs754020850
NM_000546.5(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.5(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.5(TP53):c.451C>T (p.Pro151Ser) 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.455C>T (p.Pro152Leu) rs587782705
NM_000546.5(TP53):c.457C>T (p.Pro153Ser) rs1064795860
NM_000546.5(TP53):c.458C>T (p.Pro153Leu)
NM_000546.5(TP53):c.459C>T (p.Pro153=) rs72661116
NM_000546.5(TP53):c.45T>C (p.Ser15=) rs766765429
NM_000546.5(TP53):c.45del (p.Gln16fs) rs1555526997
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.465C>A (p.Thr155=) rs786202992
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.468C>T (p.Arg156=) rs761222871
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>A (p.Arg158His) rs587782144
NM_000546.5(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_000546.5(TP53):c.473G>T (p.Arg158Leu) rs587782144
NM_000546.5(TP53):c.473_474delinsTT (p.Arg158Leu) rs1567553501
NM_000546.5(TP53):c.474C>T (p.Arg158=) rs139200646
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.483C>A (p.Ala161=) rs1057523101
NM_000546.5(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_000546.5(TP53):c.488A>G (p.Tyr163Cys) rs148924904
NM_000546.5(TP53):c.48G>C (p.Gln16His)
NM_000546.5(TP53):c.490A>G (p.Lys164Glu) rs879254249
NM_000546.5(TP53):c.492_493delinsCT (p.Lys164_Gln165delinsAsnTer) rs1567553215
NM_000546.5(TP53):c.493C>T (p.Gln165Ter) rs730882001
NM_000546.5(TP53):c.495_497del (p.Ser166del)
NM_000546.5(TP53):c.497C>T (p.Ser166Leu) rs1555526101
NM_000546.5(TP53):c.498A>G (p.Ser166=) rs1555526098
NM_000546.5(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.5(TP53):c.4G>A (p.Glu2Lys) rs769884991
NM_000546.5(TP53):c.500A>G (p.Gln167Arg)
NM_000546.5(TP53):c.501del (p.Gln167fs) rs1567553148
NM_000546.5(TP53):c.503A>G (p.His168Arg) rs867114783
NM_000546.5(TP53):c.504C>T (p.His168=) rs746293837
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.509_510dup (p.Glu171fs)
NM_000546.5(TP53):c.510G>A (p.Thr170=) rs757544615
NM_000546.5(TP53):c.511G>A (p.Glu171Lys) rs587781845
NM_000546.5(TP53):c.511G>T (p.Glu171Ter) 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.517G>A (p.Val173Met) rs876660754
NM_000546.5(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.5(TP53):c.517_535dup (p.His179fs) rs1567552753
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.522_559+5delGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAG rs1555525957
NM_000546.5(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.5(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.524G>T (p.Arg175Leu) rs28934578
NM_000546.5(TP53):c.527G>A (p.Cys176Tyr) rs786202962
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.532C>G (p.His178Asp) rs1064795203
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.535C>T (p.His179Tyr) 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.537T>A (p.His179Gln) rs876660821
NM_000546.5(TP53):c.537T>C (p.His179=) rs876660821
NM_000546.5(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.5(TP53):c.538G>A (p.Glu180Lys) rs879253911
NM_000546.5(TP53):c.541C>A (p.Arg181Ser) rs587782596
NM_000546.5(TP53):c.541C>T (p.Arg181Cys) rs587782596
NM_000546.5(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.5(TP53):c.542G>T (p.Arg181Leu) rs397514495
NM_000546.5(TP53):c.54A>G (p.Thr18=) rs876659984
NM_000546.5(TP53):c.551A>G (p.Asp184Gly) rs1060501209
NM_000546.5(TP53):c.551_554del (p.Asp184fs)
NM_000546.5(TP53):c.554G>A (p.Ser185Asn) rs150607408
NM_000546.5(TP53):c.555C>T (p.Ser185=) rs367560109
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.558T>C (p.Asp186=) rs375275361
NM_000546.5(TP53):c.559+1G>T
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+8G>A rs775915220
NM_000546.5(TP53):c.559+9C>G rs1224204682
NM_000546.5(TP53):c.560-4_560-2delTTA rs1060501212
NM_000546.5(TP53):c.560-6T>C rs1555525929
NM_000546.5(TP53):c.560-8G>C rs373797299
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.574C>T (p.Gln192Ter) rs866380588
NM_000546.5(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.5(TP53):c.578A>G (p.His193Arg) rs786201838
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.582T>C (p.Leu194=) rs370216745
NM_000546.5(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.5(TP53):c.584T>C (p.Ile195Thr) 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.586C>T (p.Arg196Ter) 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.606T>C (p.Arg202=) rs1392931620
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.612G>A (p.Glu204=) rs749629973
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.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.5(TP53):c.615T>C (p.Tyr205=) rs786202222
NM_000546.5(TP53):c.618G>A (p.Leu206=) rs142813240
NM_000546.5(TP53):c.626_627del (p.Arg209fs) rs1057517840
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.637C>T (p.Arg213Ter) rs397516436
NM_000546.5(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.639A>G (p.Arg213=) rs1800372
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>C (p.His214=) rs587781386
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.652G>A (p.Val218Met) rs878854072
NM_000546.5(TP53):c.653T>G (p.Val218Gly) rs1555525743
NM_000546.5(TP53):c.657C>A (p.Pro219=) rs786201859
NM_000546.5(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.5(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.5(TP53):c.661G>A (p.Glu221Lys) rs786201592
NM_000546.5(TP53):c.661G>T (p.Glu221Ter) rs786201592
NM_000546.5(TP53):c.662A>C (p.Glu221Ala) rs1567551121
NM_000546.5(TP53):c.662del (p.Glu221fs) rs878854071
NM_000546.5(TP53):c.663G>A (p.Glu221=) rs1060504161
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.666G>A (p.Pro222=) rs72661118
NM_000546.5(TP53):c.666G>T (p.Pro222=) rs72661118
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+1G>A rs863224499
NM_000546.5(TP53):c.672+4T>C
NM_000546.5(TP53):c.672+8_672+22delTTGCAACTGGGGTCT rs1467799984
NM_000546.5(TP53):c.672G>A (p.Glu224=) rs267605076
NM_000546.5(TP53):c.673-1G>T rs878854073
NM_000546.5(TP53):c.673-2A>G rs1555525585
NM_000546.5(TP53):c.673-36G>C rs17880604
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.6G>A (p.Glu2=) rs143458271
NM_000546.5(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_000546.5(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.5(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.5(TP53):c.702_714del (p.His233_Tyr234insTer) rs1567549676
NM_000546.5(TP53):c.703A>T (p.Asn235Tyr) rs786204145
NM_000546.5(TP53):c.704A>G (p.Asn235Ser) rs144340710
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.711del (p.Met237fs)
NM_000546.5(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.5(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_000546.5(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.5(TP53):c.714T>G (p.Cys238Trp) rs193920789
NM_000546.5(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.5(TP53):c.715_724del (p.Asn239fs) rs1555525518
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.716del (p.Asn239fs) rs1060501197
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.722C>T (p.Ser241Phe) rs28934573
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>A (p.Cys242Tyr) rs121912655
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>A (p.Gly244Ser) rs1057519989
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>A (p.Gly244Asp) rs985033810
NM_000546.5(TP53):c.731G>C (p.Gly244Ala) rs985033810
NM_000546.5(TP53):c.732C>T (p.Gly244=) rs759625762
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_000546.5(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.5(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.5(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.5(TP53):c.736A>G (p.Met246Val) rs483352695
NM_000546.5(TP53):c.736A>T (p.Met246Leu) rs483352695
NM_000546.5(TP53):c.737T>A (p.Met246Lys) rs587780074
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.74+8G>A rs776933919
NM_000546.5(TP53):c.74+9A>C rs1057517593
NM_000546.5(TP53):c.740A>G (p.Asn247Ser) rs786201762
NM_000546.5(TP53):c.741C>T (p.Asn247=) rs786202448
NM_000546.5(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.743G>C (p.Arg248Pro) rs11540652
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.75-8T>C rs1555526938
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.753C>T (p.Ile251=) 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.761_763TCA[1] (p.Ile255del) rs1064794309
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.766dup (p.Thr256fs)
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.772G>A (p.Glu258Lys) rs121912652
NM_000546.5(TP53):c.773A>C (p.Glu258Ala) rs1060501201
NM_000546.5(TP53):c.773A>G (p.Glu258Gly) rs1060501201
NM_000546.5(TP53):c.776A>G (p.Asp259Gly) rs745425759
NM_000546.5(TP53):c.779C>A (p.Ser260Tyr) rs876658916
NM_000546.5(TP53):c.782+2_782+6delTCAGG rs1567548832
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.782+6delG rs864622076
NM_000546.5(TP53):c.783-1G>A rs1555525367
NM_000546.5(TP53):c.783-2A>G rs1060501207
NM_000546.5(TP53):c.783-4G>A rs1060504160
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.788del (p.Asn263fs)
NM_000546.5(TP53):c.790C>A (p.Leu264Ile)
NM_000546.5(TP53):c.790del (p.Leu264fs) rs1060501194
NM_000546.5(TP53):c.791T>C (p.Leu264Pro) rs1555525353
NM_000546.5(TP53):c.792A>G (p.Leu264=) rs1060504162
NM_000546.5(TP53):c.794T>C (p.Leu265Pro) rs879253942
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.799C>T (p.Arg267Trp) rs55832599
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.801dup (p.Asn268fs)
NM_000546.5(TP53):c.805A>C (p.Ser269Arg)
NM_000546.5(TP53):c.809T>C (p.Phe270Ser) rs1057519986
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.812_815dup (p.Arg273fs)
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.817C>A (p.Arg273Ser) rs121913343
NM_000546.5(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.5(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.5(TP53):c.818_819GT[1] (p.Val274fs) rs1567547933
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.824G>A (p.Cys275Tyr) rs863224451
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.831T>A (p.Cys277Ter) rs1057523347
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.837_838GA[2] (p.Asp281fs) rs1567547661
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.841G>A (p.Asp281Asn) rs764146326
NM_000546.5(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_000546.5(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.5(TP53):c.842A>T (p.Asp281Val) rs587781525
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.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.844_847delinsAG (p.Arg283fs) rs1555525209
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.5(TP53):c.845G>C (p.Arg282Pro) 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.848_857del (p.Arg283fs) rs1555525170
NM_000546.5(TP53):c.848_867dup (p.Arg290fs)
NM_000546.5(TP53):c.849C>G (p.Arg283=) rs1555525197
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.853G>A (p.Glu285Lys) rs112431538
NM_000546.5(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_000546.5(TP53):c.856G>A (p.Glu286Lys) rs786201059
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.867C>T (p.Leu289=) rs778138282
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.86del (p.Asn29fs) rs1555526931
NM_000546.5(TP53):c.870_871delinsAC (p.Lys291Gln) rs1060501205
NM_000546.5(TP53):c.870dup (p.Lys291fs) rs1555525140
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.885T>C (p.Pro295=) rs200073907
NM_000546.5(TP53):c.886C>T (p.His296Tyr) rs672601296
NM_000546.5(TP53):c.891C>A (p.His297Gln)
NM_000546.5(TP53):c.891C>T (p.His297=) rs750578863
NM_000546.5(TP53):c.892G>A (p.Glu298Lys) rs201744589
NM_000546.5(TP53):c.892G>T (p.Glu298Ter) rs201744589
NM_000546.5(TP53):c.894G>A (p.Glu298=) rs756123992
NM_000546.5(TP53):c.895C>T (p.Leu299=) rs752701561
NM_000546.5(TP53):c.8A>G (p.Glu3Gly) rs786203938
NM_000546.5(TP53):c.901_902dup (p.Gly302fs)
NM_000546.5(TP53):c.903A>G (p.Pro301=) rs72661120
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.90C>T (p.Asn30=) rs370992294
NM_000546.5(TP53):c.916C>A (p.Arg306=) rs121913344
NM_000546.5(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_000546.5(TP53):c.917G>A (p.Arg306Gln) rs1048095040
NM_000546.5(TP53):c.917_919+10del rs1555525040
NM_000546.5(TP53):c.917_919+15delGAGGTAAGCAAGCAGGAC
NM_000546.5(TP53):c.917_919+6delGAGGTAAGC rs1567546716
NM_000546.5(TP53):c.919+2T>G rs1131691016
NM_000546.5(TP53):c.919+5G>C rs766127339
NM_000546.5(TP53):c.919+7A>C rs199527475
NM_000546.5(TP53):c.919+8A>C rs1555525043
NM_000546.5(TP53):c.919+9G>A rs772829199
NM_000546.5(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000546.5(TP53):c.920-1G>C rs587781702
NM_000546.5(TP53):c.920-4C>G rs1555525022
NM_000546.5(TP53):c.920-5C>A rs34361146
NM_000546.5(TP53):c.920-5C>T rs34361146
NM_000546.5(TP53):c.920-8T>C rs1555525024
NM_000546.5(TP53):c.920C>T (p.Ala307Val)
NM_000546.5(TP53):c.924G>C (p.Leu308=) rs786202546
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.933C>T (p.Asn311=) rs201601993
NM_000546.5(TP53):c.935C>G (p.Thr312Ser) rs145151284
NM_000546.5(TP53):c.936C>G (p.Thr312=) rs1555524991
NM_000546.5(TP53):c.941C>T (p.Ser314Phe) rs751440465
NM_000546.5(TP53):c.942C>A (p.Ser314=) rs765930028
NM_000546.5(TP53):c.943T>A (p.Ser315Thr) rs762620193
NM_000546.5(TP53):c.945del (p.Gln317fs)
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.949del (p.Gln317fs) rs1567546196
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.97-11C>G
NM_000546.5(TP53):c.97-1G>A
NM_000546.5(TP53):c.97-1G>T
NM_000546.5(TP53):c.97-3C>T rs786203749
NM_000546.5(TP53):c.97-4A>T rs746791390
NM_000546.5(TP53):c.97-6C>T rs35117667
NM_000546.5(TP53):c.97-9C>T rs202217267
NM_000546.5(TP53):c.970G>C (p.Asp324His) rs1064794810
NM_000546.5(TP53):c.973G>T (p.Gly325Ter) rs863224500
NM_000546.5(TP53):c.974G>T (p.Gly325Val) rs121912659
NM_000546.5(TP53):c.975A>G (p.Gly325=) rs1245012034
NM_000546.5(TP53):c.976G>T (p.Glu326Ter) rs876659384
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.990_993del (p.Gln331fs) rs1555524949
NM_000546.5(TP53):c.993+1G>A rs11575997
NM_000546.5(TP53):c.993+1G>C rs11575997
NM_000546.5(TP53):c.993+5T>G
NM_000546.5(TP53):c.993+7A>G rs1023206153
NM_000546.5(TP53):c.993+8G>A rs1060504163
NM_000546.5(TP53):c.993G>A (p.Gln331=) rs11575996
NM_000546.5(TP53):c.994-1G>C rs587782272
NM_000546.5(TP53):c.994-5T>C rs375273756
NM_000546.5(TP53):c.994-6C>A rs1555524474
NM_000546.5(TP53):c.996C>G (p.Ile332Met) rs1555524470
NM_000546.5(TP53):c.997C>T (p.Arg333Cys) rs769934890
NM_000546.5(TP53):c.998G>A (p.Arg333His) rs573154688
NM_000551.3(VHL):c.103_117dup (p.Ala35_Gly39dup) rs1553619337
NM_000551.3(VHL):c.104C>A (p.Ala35Asp) rs587780536
NM_000551.3(VHL):c.104C>T (p.Ala35Val) rs587780536
NM_000551.3(VHL):c.105C>G (p.Ala35=) rs1310829877
NM_000551.3(VHL):c.108G>A (p.Glu36=) rs1553619344
NM_000551.3(VHL):c.112_156dup (p.Ser38_Glu52dup)
NM_000551.3(VHL):c.113C>T (p.Ser38Phe)
NM_000551.3(VHL):c.114C>T (p.Ser38=) rs417164
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.123_137del (p.38_42SGPEE[1]) rs863224839
NM_000551.3(VHL):c.123_137dup (p.38_42SGPEE[3]) rs863224839
NM_000551.3(VHL):c.129C>T (p.Ser43=) rs864622645
NM_000551.3(VHL):c.12G>A (p.Arg4=) rs1553619274
NM_000551.3(VHL):c.130G>A (p.Gly44Ser)
NM_000551.3(VHL):c.133C>G (p.Pro45Ala)
NM_000551.3(VHL):c.134C>G (p.Pro45Arg) rs199583685
NM_000551.3(VHL):c.134C>T (p.Pro45Leu)
NM_000551.3(VHL):c.135G>A (p.Pro45=) rs773519476
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.150C>A (p.Ala50=) rs61751580
NM_000551.3(VHL):c.150C>G (p.Ala50=) rs61751580
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.159G>A (p.Glu53=) rs1553619385
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.168C>G (p.Ala56=) rs864622714
NM_000551.3(VHL):c.168C>T (p.Ala56=) rs864622714
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>A (p.Arg58=) rs757781272
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.179_192del (p.Arg60fs) rs1064796408
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.183C>G (p.Pro61=) rs63650860
NM_000551.3(VHL):c.183C>T (p.Pro61=) rs63650860
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.191G>C (p.Arg64Pro) rs104893826
NM_000551.3(VHL):c.192C>T (p.Arg64=) rs1012545817
NM_000551.3(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000551.3(VHL):c.195G>C (p.Ser65=) rs1553619409
NM_000551.3(VHL):c.1A>T (p.Met1Leu) rs1060503557
NM_000551.3(VHL):c.205C>G (p.Arg69Gly) rs1428175816
NM_000551.3(VHL):c.207C>T (p.Arg69=) rs1060503550
NM_000551.3(VHL):c.209A>G (p.Glu70Gly) rs786202857
NM_000551.3(VHL):c.20A>C (p.Asn7Thr)
NM_000551.3(VHL):c.213C>T (p.Pro71=) rs201663073
NM_000551.3(VHL):c.216C>T (p.Ser72=) rs774557051
NM_000551.3(VHL):c.217C>G (p.Gln73Glu)
NM_000551.3(VHL):c.219G>C (p.Gln73His)
NM_000551.3(VHL):c.21C>A (p.Asn7Lys) rs1060503561
NM_000551.3(VHL):c.221T>C (p.Val74Ala) rs5030803
NM_000551.3(VHL):c.223A>C (p.Ile75Leu) rs1060503554
NM_000551.3(VHL):c.223A>G (p.Ile75Val)
NM_000551.3(VHL):c.224_226TCT[1] (p.Phe76del) rs5030648
NM_000551.3(VHL):c.225C>G (p.Ile75Met)
NM_000551.3(VHL):c.225C>T (p.Ile75=) rs768104793
NM_000551.3(VHL):c.226_227del (p.Phe76fs) rs1060503552
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.233A>G (p.Asn78Ser) rs5030804
NM_000551.3(VHL):c.233A>T (p.Asn78Ile) 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.240T>C (p.Ser80=) rs1553619424
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.242C>T (p.Pro81Leu) rs193922608
NM_000551.3(VHL):c.245G>T (p.Arg82Leu) rs794726890
NM_000551.3(VHL):c.246C>T (p.Arg82=) rs587780993
NM_000551.3(VHL):c.249C>G (p.Val83=) rs1271292937
NM_000551.3(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.3(VHL):c.251T>C (p.Val84Ala)
NM_000551.3(VHL):c.255G>T (p.Leu85=) rs876658508
NM_000551.3(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.3(VHL):c.258C>G (p.Pro86=) rs781063331
NM_000551.3(VHL):c.258del (p.Val87fs) rs864622545
NM_000551.3(VHL):c.25G>A (p.Asp9Asn) rs587780730
NM_000551.3(VHL):c.25G>C (p.Asp9His)
NM_000551.3(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.3(VHL):c.262T>C (p.Trp88Arg) rs1553619431
NM_000551.3(VHL):c.264G>C (p.Trp88Cys)
NM_000551.3(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.3(VHL):c.265C>T (p.Leu89Phe)
NM_000551.3(VHL):c.266T>C (p.Leu89Pro) rs5030807
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.277G>A (p.Gly93Ser) rs5030808
NM_000551.3(VHL):c.277_294del (p.Gly93_Tyr98del) rs1559426059
NM_000551.3(VHL):c.278_279delinsTT (p.Gly93Val) rs1559426072
NM_000551.3(VHL):c.27C>A (p.Asp9Glu) rs1017141110
NM_000551.3(VHL):c.27C>T (p.Asp9=) rs1017141110
NM_000551.3(VHL):c.280G>A (p.Glu94Lys) rs5030829
NM_000551.3(VHL):c.283C>T (p.Pro95Ser)
NM_000551.3(VHL):c.284C>T (p.Pro95Leu)
NM_000551.3(VHL):c.289C>A (p.Pro97Thr) rs863224688
NM_000551.3(VHL):c.289C>T (p.Pro97Ser) rs863224688
NM_000551.3(VHL):c.28G>A (p.Glu10Lys) rs1057519261
NM_000551.3(VHL):c.291C>G (p.Pro97=) rs1805159
NM_000551.3(VHL):c.291C>T (p.Pro97=) rs1805159
NM_000551.3(VHL):c.291_302del (p.Tyr98_Leu101del)
NM_000551.3(VHL):c.292T>C (p.Tyr98His) rs5030809
NM_000551.3(VHL):c.296C>G (p.Pro99Arg) rs1553619452
NM_000551.3(VHL):c.297A>C (p.Pro99=) rs774753107
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.315G>C (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.324C>T (p.Arg108=) rs878854124
NM_000551.3(VHL):c.327C>T (p.Ile109=) rs863224371
NM_000551.3(VHL):c.331A>T (p.Ser111Cys) rs1559426203
NM_000551.3(VHL):c.333C>T (p.Ser111=) rs765978945
NM_000551.3(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.3(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000551.3(VHL):c.337C>T (p.Arg113Ter) rs5030810
NM_000551.3(VHL):c.338G>C (p.Arg113Pro) rs767062290
NM_000551.3(VHL):c.339_340+5del
NM_000551.3(VHL):c.340+3A>G
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000551.3(VHL):c.340+6G>A
NM_000551.3(VHL):c.340G>A (p.Gly114Ser)
NM_000551.3(VHL):c.341-10G>C rs140064807
NM_000551.3(VHL):c.341-25_370dup rs1553619923
NM_000551.3(VHL):c.341-2A>G rs869025637
NM_000551.3(VHL):c.341-5G>A rs372340900
NM_000551.3(VHL):c.341-5G>T
NM_000551.3(VHL):c.341-6C>G
NM_000551.3(VHL):c.341-6C>T rs191201783
NM_000551.3(VHL):c.341-8C>G rs1272767361
NM_000551.3(VHL):c.344A>G (p.His115Arg)
NM_000551.3(VHL):c.345C>T (p.His115=) rs864622646
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.353T>C (p.Leu118Pro) rs5030830
NM_000551.3(VHL):c.355T>C (p.Phe119Leu) rs1553619948
NM_000551.3(VHL):c.357C>G (p.Phe119Leu) rs1559428077
NM_000551.3(VHL):c.358A>G (p.Arg120Gly) rs869025642
NM_000551.3(VHL):c.362A>G (p.Asp121Gly) rs5030832
NM_000551.3(VHL):c.366A>G (p.Ala122=) rs1474241640
NM_000551.3(VHL):c.36G>C (p.Glu12Asp) rs973493604
NM_000551.3(VHL):c.370A>G (p.Thr124Ala) rs1559428091
NM_000551.3(VHL):c.370_371AC[2] (p.His125fs) rs869025644
NM_000551.3(VHL):c.373C>T (p.His125Tyr) rs375401722
NM_000551.3(VHL):c.375C>T (p.His125=) rs863224372
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.377del (p.Asp126fs) rs1553619952
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.385C>T (p.Leu129=) rs369018004
NM_000551.3(VHL):c.387G>T (p.Leu129=) rs778846471
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.402A>G (p.Glu134=) rs201482330
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.411G>C (p.Val137=) rs1553619969
NM_000551.3(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.3(VHL):c.415_416TC[2] (p.Leu140fs) rs869025649
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.420C>A (p.Leu140=) rs369465430
NM_000551.3(VHL):c.422dup (p.Asn141fs) rs1553619976
NM_000551.3(VHL):c.425T>C (p.Val142Ala) rs1553619979
NM_000551.3(VHL):c.427G>C (p.Asp143His) rs372757722
NM_000551.3(VHL):c.429C>T (p.Asp143=) rs773556807
NM_000551.3(VHL):c.430G>A (p.Gly144Arg)
NM_000551.3(VHL):c.430G>C (p.Gly144Arg) rs869025650
NM_000551.3(VHL):c.430G>T (p.Gly144Ter) 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.435_436del (p.Gln145fs) rs869025652
NM_000551.3(VHL):c.437C>T (p.Pro146Leu)
NM_000551.3(VHL):c.439A>G (p.Ile147Val) rs1057517560
NM_000551.3(VHL):c.43G>A (p.Ala15Thr) rs1060503568
NM_000551.3(VHL):c.440T>C (p.Ile147Thr) rs1060503555
NM_000551.3(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.3(VHL):c.449del (p.Asn150fs) rs794727253
NM_000551.3(VHL):c.452T>C (p.Ile151Thr) rs869025655
NM_000551.3(VHL):c.45G>A (p.Ala15=) rs563813895
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.461C>T (p.Pro154Leu)
NM_000551.3(VHL):c.462A>G (p.Pro154=) rs1060503562
NM_000551.3(VHL):c.463+1G>A rs869025657
NM_000551.3(VHL):c.463+2T>C
NM_000551.3(VHL):c.463+4C>T rs879253989
NM_000551.3(VHL):c.463+8C>T rs5030834
NM_000551.3(VHL):c.463+9G>A rs1057522720
NM_000551.3(VHL):c.464-10G>A rs552930903
NM_000551.3(VHL):c.464-2A>G rs5030816
NM_000551.3(VHL):c.464-3C>T
NM_000551.3(VHL):c.464-?_*3705del
NM_000551.3(VHL):c.467A>G (p.Tyr156Cys) rs397516441
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.472C>G (p.Leu158Val) rs1559429613
NM_000551.3(VHL):c.477del (p.Glu160fs) rs730882020
NM_000551.3(VHL):c.47A>C (p.Glu16Ala) rs864622379
NM_000551.3(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.3(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000551.3(VHL):c.486C>G (p.Cys162Trp) rs5030622
NM_000551.3(VHL):c.488T>G (p.Leu163Arg) rs28940297
NM_000551.3(VHL):c.48G>A (p.Glu16=) rs1057522140
NM_000551.3(VHL):c.48G>C (p.Glu16Asp) rs1057522140
NM_000551.3(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.3(VHL):c.492G>T (p.Gln164His) rs1352275281
NM_000551.3(VHL):c.493G>T (p.Val165Phe)
NM_000551.3(VHL):c.494T>G (p.Val165Gly)
NM_000551.3(VHL):c.499C>G (p.Arg167Gly) rs5030820
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.3(VHL):c.4C>T (p.Pro2Ser)
NM_000551.3(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.3(VHL):c.500G>T (p.Arg167Leu) rs5030821
NM_000551.3(VHL):c.501_502insTTGTCCGT (p.Ser168fs) rs398123483
NM_000551.3(VHL):c.504C>T (p.Ser168=) rs1553620323
NM_000551.3(VHL):c.507A>C (p.Leu169=) rs878854126
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.524A>G (p.Tyr175Cys) rs193922613
NM_000551.3(VHL):c.525C>G (p.Tyr175Ter) rs5030835
NM_000551.3(VHL):c.526A>G (p.Arg176Gly)
NM_000551.3(VHL):c.532C>G (p.Leu178Val)
NM_000551.3(VHL):c.533T>C (p.Leu178Pro) rs5030822
NM_000551.3(VHL):c.535G>A (p.Asp179Asn) rs767780451
NM_000551.3(VHL):c.538A>G (p.Ile180Val) rs377715747
NM_000551.3(VHL):c.53C>T (p.Ala18Val) rs1553619302
NM_000551.3(VHL):c.540C>T (p.Ile180=) rs374927292
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.548C>A (p.Ser183Ter) rs5030823
NM_000551.3(VHL):c.548C>T (p.Ser183Leu) rs5030823
NM_000551.3(VHL):c.549G>A (p.Ser183=) rs193922614
NM_000551.3(VHL):c.549G>T (p.Ser183=) rs193922614
NM_000551.3(VHL):c.54A>C (p.Ala18=) rs1305687580
NM_000551.3(VHL):c.552C>T (p.Leu184=) rs779157605
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.555C>T (p.Tyr185=) rs864622109
NM_000551.3(VHL):c.556G>A (p.Glu186Lys) rs367545984
NM_000551.3(VHL):c.561T>C (p.Asp187=) rs370769257
NM_000551.3(VHL):c.562C>G (p.Leu188Val) rs5030824
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.579T>C (p.Asn193=) rs1060503558
NM_000551.3(VHL):c.57C>A (p.Gly19=) rs1453582828
NM_000551.3(VHL):c.57del (p.Val20fs) rs1553619308
NM_000551.3(VHL):c.581T>G (p.Val194Gly) rs1131690963
NM_000551.3(VHL):c.585G>C (p.Gln195His) rs878854128
NM_000551.3(VHL):c.586A>G (p.Lys196Glu) rs281860296
NM_000551.3(VHL):c.590A>C (p.Asp197Ala)
NM_000551.3(VHL):c.596A>C (p.Glu199Ala) rs760690217
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298
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.60C>G (p.Val20=) rs1553619311
NM_000551.3(VHL):c.610G>C (p.Glu204Gln)
NM_000551.3(VHL):c.610G>T (p.Glu204Ter) rs758853661
NM_000551.3(VHL):c.612G>A (p.Glu204=) rs747805018
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.6C>G (p.Pro2=) rs1014417508
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.72C>A (p.Gly24=) rs1375079282
NM_000551.3(VHL):c.73C>G (p.Pro25Ala) rs745338799
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000551.3(VHL):c.75T>C (p.Pro25=) rs1553619317
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_000551.3(VHL):c.99G>C (p.Ser33=) rs912159589
NM_000941.3(POR):c.1370G>A (p.Arg457His) rs28931608
NM_000941.3(POR):c.1384G>C (p.Ala462Pro)
NM_000941.3(POR):c.1571_1619dup (p.Ala541fs) rs1563435458
NM_000941.3(POR):c.188+2T>C
NM_000941.3(POR):c.214T>C (p.Phe72Leu) rs782107314
NM_000941.3(POR):c.513C>G (p.Phe171Leu)
NM_001126114.2(TP53):c.560-11_560-8dup rs1555525931
NM_001126118.1(TP53):c.258+1dup rs1555526470
NM_002382.5(MAX):c.102A>G (p.Lys34=) rs1060503836
NM_002382.5(MAX):c.120del (p.Asp41fs)
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.177C>G (p.Ser59=) rs781103630
NM_002382.5(MAX):c.211_221del (p.Ile71fs) rs1060500101
NM_002382.5(MAX):c.219T>A (p.Tyr73Ter) rs1193255946
NM_002382.5(MAX):c.21C>A (p.Ile7=) rs760248675
NM_002382.5(MAX):c.21C>G (p.Ile7Met) rs760248675
NM_002382.5(MAX):c.223C>T (p.Arg75Ter) rs387906650
NM_002382.5(MAX):c.228del (p.Asn78fs) rs1555340550
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.279T>C (p.Ala93=) rs145370107
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.289C>T (p.Gln97Ter)
NM_002382.5(MAX):c.295+10C>G rs375446224
NM_002382.5(MAX):c.295+10C>T rs375446224
NM_002382.5(MAX):c.295+6C>T rs146552320
NM_002382.5(MAX):c.295+8C>G rs754409025
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.351C>T (p.Ser117=) rs1555340215
NM_002382.5(MAX):c.359A>G (p.Asn120Ser) rs80206158
NM_002382.5(MAX):c.36+10G>C rs1421908769
NM_002382.5(MAX):c.36+9T>C rs774467253
NM_002382.5(MAX):c.360C>A (p.Asn120Lys) rs1555340209
NM_002382.5(MAX):c.375C>T (p.Asn125=) rs370238588
NM_002382.5(MAX):c.376G>A (p.Ala126Thr)
NM_002382.5(MAX):c.384C>A (p.Gly128=) rs1555340201
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.402C>T (p.Phe134=) rs765370870
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.426G>A (p.Ser142=) rs145787299
NM_002382.5(MAX):c.432T>A (p.Ser144=) rs1485899939
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_002382.5(MAX):c.57A>G (p.Gln19=) rs1395966308
NM_002382.5(MAX):c.63+8T>C rs776724315
NM_002382.5(MAX):c.6C>T (p.Ser2=) rs138539686
NM_002382.5(MAX):c.87T>C (p.Asn29=) rs771488967
NM_002382.5(MAX):c.97C>T (p.Arg33Ter) rs387906651
NM_002734.4(PRKAR1A):c.1014A>C (p.Thr338=) rs1409504061
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.1029C>T (p.Gly343=) rs1803241
NM_002734.4(PRKAR1A):c.1031C>T (p.Pro344Leu)
NM_002734.4(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504
NM_002734.4(PRKAR1A):c.1041C>T (p.Cys347=) rs1192354369
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.1143C>G (p.Val381=) rs755043531
NM_002734.4(PRKAR1A):c.121G>A (p.Ala41Thr) rs1356757839
NM_002734.4(PRKAR1A):c.125G>A (p.Arg42Gln)
NM_002734.4(PRKAR1A):c.132G>A (p.Glu44=) rs145590804
NM_002734.4(PRKAR1A):c.135A>G (p.Arg45=) rs1060504125
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.156A>G (p.Glu52=) rs141432364
NM_002734.4(PRKAR1A):c.166A>G (p.Arg56Gly)
NM_002734.4(PRKAR1A):c.177+1G>A rs1555811753
NM_002734.4(PRKAR1A):c.177+7A>G rs1555811756
NM_002734.4(PRKAR1A):c.178-3C>T
NM_002734.4(PRKAR1A):c.178-8T>G rs771192586
NM_002734.4(PRKAR1A):c.189A>G (p.Lys63=) rs1060504126
NM_002734.4(PRKAR1A):c.18C>T (p.Thr6=) rs755978926
NM_002734.4(PRKAR1A):c.196C>A (p.Gln66Lys)
NM_002734.4(PRKAR1A):c.19G>A (p.Ala7Thr) rs369210646
NM_002734.4(PRKAR1A):c.204G>A (p.Leu68=) rs74863634
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>A (p.Arg74His) rs200069356
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.280A>C (p.Arg94=) rs1443738914
NM_002734.4(PRKAR1A):c.280_282AGG[1] (p.Arg97del)
NM_002734.4(PRKAR1A):c.286C>T (p.Arg96Ter) rs281864783
NM_002734.4(PRKAR1A):c.287G>A (p.Arg96Gln) rs1555813215
NM_002734.4(PRKAR1A):c.289C>T (p.Arg97Ter) rs1555813217
NM_002734.4(PRKAR1A):c.296C>T (p.Ala99Val) rs1568695224
NM_002734.4(PRKAR1A):c.303C>T (p.Ser101=) rs1294747986
NM_002734.4(PRKAR1A):c.309G>A (p.Glu103=) rs746113372
NM_002734.4(PRKAR1A):c.317C>T (p.Thr106Met)
NM_002734.4(PRKAR1A):c.318G>A (p.Thr106=) rs113994213
NM_002734.4(PRKAR1A):c.320A>C (p.Glu107Ala)
NM_002734.4(PRKAR1A):c.329C>T (p.Ala110Val) rs1194755479
NM_002734.4(PRKAR1A):c.330G>A (p.Ala110=) rs371834376
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.360A>G (p.Lys120=) rs1555813428
NM_002734.4(PRKAR1A):c.381T>C (p.Ala127=) rs372669687
NM_002734.4(PRKAR1A):c.424_426GAT[1] (p.Asp143del)
NM_002734.4(PRKAR1A):c.441-5T>C rs771949207
NM_002734.4(PRKAR1A):c.441-5T>G rs771949207
NM_002734.4(PRKAR1A):c.441-5delT rs777677808
NM_002734.4(PRKAR1A):c.464C>T (p.Ser155Leu) rs1568696484
NM_002734.4(PRKAR1A):c.46C>T (p.Arg16Ter) rs886041228
NM_002734.4(PRKAR1A):c.470C>T (p.Ser157Phe) rs776071358
NM_002734.4(PRKAR1A):c.477C>T (p.Ile159=) rs372389205
NM_002734.4(PRKAR1A):c.478G>A (p.Ala160Thr) rs765675434
NM_002734.4(PRKAR1A):c.483A>G (p.Gly161=) rs141518491
NM_002734.4(PRKAR1A):c.489T>C (p.Thr163=) rs143672551
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+1G>A rs1555813578
NM_002734.4(PRKAR1A):c.502+2dup rs1555813585
NM_002734.4(PRKAR1A):c.506A>G (p.Asp169Gly)
NM_002734.4(PRKAR1A):c.525T>C (p.Tyr175=) rs1168113151
NM_002734.4(PRKAR1A):c.528G>A (p.Val176=) rs752927621
NM_002734.4(PRKAR1A):c.535C>G (p.Gln179Glu)
NM_002734.4(PRKAR1A):c.545C>T (p.Thr182Met) rs199801675
NM_002734.4(PRKAR1A):c.546G>A (p.Thr182=) rs117639566
NM_002734.4(PRKAR1A):c.549+10A>C rs751413552
NM_002734.4(PRKAR1A):c.54T>C (p.Cys18=) rs1555811690
NM_002734.4(PRKAR1A):c.550-6C>T rs1555814031
NM_002734.4(PRKAR1A):c.550-8C>T rs375936679
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>G (p.Glu189=) 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.591A>G (p.Gly197=) rs991638429
NM_002734.4(PRKAR1A):c.596G>A (p.Ser199Asn) rs755798109
NM_002734.4(PRKAR1A):c.606A>G (p.Glu202=) rs878884422
NM_002734.4(PRKAR1A):c.60C>G (p.Leu20=) rs372451862
NM_002734.4(PRKAR1A):c.626C>T (p.Thr209Ile)
NM_002734.4(PRKAR1A):c.630G>A (p.Pro210=) rs756720013
NM_002734.4(PRKAR1A):c.63C>T (p.Tyr21=) rs777110464
NM_002734.4(PRKAR1A):c.64G>T (p.Val22Phe) rs878854561
NM_002734.4(PRKAR1A):c.660_661TG[1] (p.Val221fs) rs1568698487
NM_002734.4(PRKAR1A):c.671G>A (p.Trp224Ter) rs1568698504
NM_002734.4(PRKAR1A):c.675C>A (p.Gly225=) rs150244650
NM_002734.4(PRKAR1A):c.678C>T (p.Ile226=) rs200592054
NM_002734.4(PRKAR1A):c.693T>C (p.Tyr231=) rs1555814113
NM_002734.4(PRKAR1A):c.709-6T>C rs1060504127
NM_002734.4(PRKAR1A):c.71A>G (p.Lys24Arg) rs763158372
NM_002734.4(PRKAR1A):c.727C>A (p.Arg243=) rs770136522
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.762T>C (p.Ser254=) rs753621663
NM_002734.4(PRKAR1A):c.764_768del (p.Ile255fs) rs1555814477
NM_002734.4(PRKAR1A):c.769+3G>A rs1555814484
NM_002734.4(PRKAR1A):c.770-9G>T rs562094333
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.798G>T (p.Thr266=) rs201774040
NM_002734.4(PRKAR1A):c.812dup (p.Leu271fs) rs1568701362
NM_002734.4(PRKAR1A):c.838C>G (p.Gln280Glu) rs1568701408
NM_002734.4(PRKAR1A):c.850G>A (p.Val284Met)
NM_002734.4(PRKAR1A):c.852G>A (p.Val284=) rs771167809
NM_002734.4(PRKAR1A):c.858A>G (p.Gly286=) rs746582369
NM_002734.4(PRKAR1A):c.85G>T (p.Ala29Ser) rs760726941
NM_002734.4(PRKAR1A):c.86C>T (p.Ala29Val)
NM_002734.4(PRKAR1A):c.87G>A (p.Ala29=) rs3730349
NM_002734.4(PRKAR1A):c.891+6G>A rs1222751049
NM_002734.4(PRKAR1A):c.891+6G>T
NM_002734.4(PRKAR1A):c.892-26_905del rs1568702458
NM_002734.4(PRKAR1A):c.892-5T>C rs1181021204
NM_002734.4(PRKAR1A):c.894G>C (p.Gly298=) rs933520060
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.974-10C>T rs774715675
NM_002734.4(PRKAR1A):c.974-6C>A rs745570426
NM_003000.2(SDHB):c.-151_*159del
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.112del (p.Arg38fs) rs398123690
NM_003000.2(SDHB):c.113G>A (p.Arg38His) rs143058777
NM_003000.2(SDHB):c.113G>C (p.Arg38Pro)
NM_003000.2(SDHB):c.120G>C (p.Lys40Asn)
NM_003000.2(SDHB):c.126del (p.Phe42fs) rs878854572
NM_003000.2(SDHB):c.130A>G (p.Ile44Val) rs200418115
NM_003000.2(SDHB):c.136C>G (p.Arg46Gly) rs74315370
NM_003000.2(SDHB):c.136C>T (p.Arg46Ter) rs74315370
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.2(SDHB):c.137G>T (p.Arg46Leu) rs772551056
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.141G>A (p.Trp47Ter) rs1060503762
NM_003000.2(SDHB):c.143A>T (p.Asp48Val) rs202101384
NM_003000.2(SDHB):c.143_144dup (p.Pro49fs)
NM_003000.2(SDHB):c.144C>T (p.Asp48=) rs1553178737
NM_003000.2(SDHB):c.148G>C (p.Asp50His) rs1060503765
NM_003000.2(SDHB):c.148_151dup (p.Lys51fs)
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.158G>A (p.Gly53Glu) rs34916635
NM_003000.2(SDHB):c.161A>T (p.Asp54Val) rs1553178735
NM_003000.2(SDHB):c.164A>G (p.Lys55Arg)
NM_003000.2(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003000.2(SDHB):c.170A>G (p.His57Arg) rs35962811
NM_003000.2(SDHB):c.171T>C (p.His57=) rs1280868219
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.190del (p.Asp64fs) rs1553178729
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.1A>T (p.Met1Leu) rs1131691049
NM_003000.2(SDHB):c.200+4A>G
NM_003000.2(SDHB):c.200+5G>C rs1553178726
NM_003000.2(SDHB):c.200+7A>G rs371329778
NM_003000.2(SDHB):c.201-10T>A
NM_003000.2(SDHB):c.201-2A>C rs878854574
NM_003000.2(SDHB):c.201-?_765+?dup
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.20_21TC[1] (p.Ser8fs) rs1060503767
NM_003000.2(SDHB):c.210dup (p.Met71fs) rs794728947
NM_003000.2(SDHB):c.214G>A (p.Val72Ile) rs1060503766
NM_003000.2(SDHB):c.21C>T (p.Leu7=) rs147815442
NM_003000.2(SDHB):c.220G>A (p.Asp74Asn)
NM_003000.2(SDHB):c.221A>C (p.Asp74Ala) rs876658713
NM_003000.2(SDHB):c.225T>C (p.Ala75=) rs201762207
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.24C>T (p.Ser8=) rs148738139
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.268C>T (p.Arg90Ter) rs74315366
NM_003000.2(SDHB):c.269G>A (p.Arg90Gln) rs570278423
NM_003000.2(SDHB):c.271A>T (p.Arg91Ter) rs878854575
NM_003000.2(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.2(SDHB):c.286+1G>A rs786201063
NM_003000.2(SDHB):c.286+2T>A rs587781270
NM_003000.2(SDHB):c.286G>A (p.Gly96Ser) rs587782243
NM_003000.2(SDHB):c.287-1G>C rs397516833
NM_003000.2(SDHB):c.287-4T>C rs200419171
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.296G>A (p.Gly99Asp) rs878854576
NM_003000.2(SDHB):c.299C>G (p.Ser100Cys) rs121917755
NM_003000.2(SDHB):c.300T>C (p.Ser100=) rs11541235
NM_003000.2(SDHB):c.306A>G (p.Ala102=) rs1553177766
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.311delinsGG (p.Asn104fs) rs786201316
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.329_330CT[1] (p.Leu111fs) rs1060503751
NM_003000.2(SDHB):c.32G>A (p.Arg11His) rs111430410
NM_003000.2(SDHB):c.335C>G (p.Ala112Gly) rs1553177762
NM_003000.2(SDHB):c.339C>T (p.Cys113=) rs754582722
NM_003000.2(SDHB):c.33C>T (p.Arg11=) rs146399542
NM_003000.2(SDHB):c.343C>T (p.Arg115Ter) rs751000085
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.357C>T (p.Thr119=) rs1553177749
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.374C>G (p.Ser125Ter) rs786203506
NM_003000.2(SDHB):c.376A>G (p.Lys126Glu)
NM_003000.2(SDHB):c.379A>C (p.Ile127Leu) rs201372280
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
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.399dup (p.Tyr134fs) rs1557741425
NM_003000.2(SDHB):c.39G>C (p.Leu13Phe)
NM_003000.2(SDHB):c.39G>T (p.Leu13Phe) rs201745731
NM_003000.2(SDHB):c.3G>A (p.Met1Ile) rs1131691061
NM_003000.2(SDHB):c.403G>A (p.Val135Met) rs201585157
NM_003000.2(SDHB):c.413A>G (p.Asp138Gly)
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
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+1G>A rs398122805
NM_003000.2(SDHB):c.423+20T>A rs190139590
NM_003000.2(SDHB):c.423C>T (p.Pro141=) rs150542357
NM_003000.2(SDHB):c.424-3C>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.441T>G (p.Tyr147Ter) rs1060503763
NM_003000.2(SDHB):c.446A>G (p.Gln149Arg)
NM_003000.2(SDHB):c.455C>T (p.Ser152Phe) rs200414835
NM_003000.2(SDHB):c.457A>T (p.Ile153Phe) rs1450956956
NM_003000.2(SDHB):c.463C>T (p.Pro155Ser) rs763008243
NM_003000.2(SDHB):c.464C>T (p.Pro155Leu) rs1553177686
NM_003000.2(SDHB):c.468T>C (p.Tyr156=) rs199718947
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.480G>A (p.Lys160=) rs1553177683
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.491del (p.Gln164fs) rs1553177678
NM_003000.2(SDHB):c.497G>A (p.Gly166Asp) rs1060503760
NM_003000.2(SDHB):c.499A>T (p.Lys167Ter) rs1060503753
NM_003000.2(SDHB):c.49A>G (p.Thr17Ala) rs1060503756
NM_003000.2(SDHB):c.502C>T (p.Gln168Ter) rs1553177677
NM_003000.2(SDHB):c.505C>T (p.Gln169Ter) rs1553177676
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.516G>A (p.Gln172=) rs138937650
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+1G>A rs1553177667
NM_003000.2(SDHB):c.540+4A>G rs1557741074
NM_003000.2(SDHB):c.540+5T>C rs1557741072
NM_003000.2(SDHB):c.540_540+13delGGTCATTAGTCCCT rs1553177666
NM_003000.2(SDHB):c.541-18_541-8dup rs1553177448
NM_003000.2(SDHB):c.541-2A>G rs786201161
NM_003000.2(SDHB):c.541-3C>T rs751920183
NM_003000.2(SDHB):c.541-6A>G rs1195530396
NM_003000.2(SDHB):c.541-7C>T rs201558574
NM_003000.2(SDHB):c.541-8C>G
NM_003000.2(SDHB):c.541G>A (p.Asp181Asn) rs201385062
NM_003000.2(SDHB):c.543C>T (p.Asp181=) rs199809975
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.552C>T (p.Tyr184=) rs202098600
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.574T>C (p.Cys192Arg) rs786202732
NM_003000.2(SDHB):c.581C>G (p.Thr194Ser) rs200535030
NM_003000.2(SDHB):c.584G>C (p.Ser195Thr)
NM_003000.2(SDHB):c.587G>A (p.Cys196Tyr) rs876658367
NM_003000.2(SDHB):c.588C>T (p.Cys196=) rs1060505015
NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.2(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003000.2(SDHB):c.593G>C (p.Ser198Thr)
NM_003000.2(SDHB):c.598T>C (p.Trp200Arg) rs1557739966
NM_003000.2(SDHB):c.5C>T (p.Ala2Val) rs199948437
NM_003000.2(SDHB):c.600G>T (p.Trp200Cys) rs397516836
NM_003000.2(SDHB):c.602G>A (p.Trp201Ter) rs1060503759
NM_003000.2(SDHB):c.606C>T (p.Asn202=) rs199653121
NM_003000.2(SDHB):c.607G>A (p.Gly203Arg) rs201517260
NM_003000.2(SDHB):c.607_616del (p.Gly203fs) rs587782617
NM_003000.2(SDHB):c.608G>C (p.Gly203Ala) rs1553177435
NM_003000.2(SDHB):c.608del (p.Gly203fs) rs1553177436
NM_003000.2(SDHB):c.609_622dup (p.Gly208fs)
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.620_621del (p.Leu207fs) rs1060503752
NM_003000.2(SDHB):c.627T>C (p.Pro209=) rs1060505016
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.63dup (p.Cys22fs)
NM_003000.2(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003000.2(SDHB):c.641A>G (p.Gln214Arg) rs781590955
NM_003000.2(SDHB):c.642+10T>C rs780427803
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.642+7T>C rs747423037
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.649C>T (p.Arg217Cys) rs200245469
NM_003000.2(SDHB):c.650G>A (p.Arg217His) rs747518441
NM_003000.2(SDHB):c.653G>A (p.Trp218Ter)
NM_003000.2(SDHB):c.656_707dup (p.Pro237_Phe238insAspTer)
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.681_682AG[1] (p.Glu228fs) rs762812025
NM_003000.2(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229fs) rs1209914140
NM_003000.2(SDHB):c.687G>C (p.Glu229Asp) rs1060503754
NM_003000.2(SDHB):c.688C>T (p.Arg230Cys) rs138996609
NM_003000.2(SDHB):c.689G>A (p.Arg230His) rs587782604
NM_003000.2(SDHB):c.689G>T (p.Arg230Leu) rs587782604
NM_003000.2(SDHB):c.695C>T (p.Ala232Val) rs746224555
NM_003000.2(SDHB):c.696C>T (p.Ala232=) rs779143585
NM_003000.2(SDHB):c.697A>T (p.Lys233Ter) rs1553177285
NM_003000.2(SDHB):c.700C>T (p.Leu234=) rs201728852
NM_003000.2(SDHB):c.704A>G (p.Gln235Arg)
NM_003000.2(SDHB):c.709C>T (p.Pro237Ser) rs186768244
NM_003000.2(SDHB):c.70C>T (p.Gln24Ter)
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.714_715CT[1] (p.Ser239fs) rs587781266
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.717dup (p.Leu240fs) rs1060503764
NM_003000.2(SDHB):c.71A>C (p.Gln24Pro) rs878854580
NM_003000.2(SDHB):c.72+1G>T rs587782703
NM_003000.2(SDHB):c.72+3G>A rs569245129
NM_003000.2(SDHB):c.72+5G>A rs878854581
NM_003000.2(SDHB):c.72+7C>A rs1553179311
NM_003000.2(SDHB):c.720A>G (p.Leu240=) rs759446340
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.723C>T (p.Tyr241=) rs878854583
NM_003000.2(SDHB):c.724C>A (p.Arg242Ser) rs786203251
NM_003000.2(SDHB):c.724C>T (p.Arg242Cys) rs786203251
NM_003000.2(SDHB):c.725G>A (p.Arg242His) rs74315368
NM_003000.2(SDHB):c.72G>A (p.Gln24=) rs1553179312
NM_003000.2(SDHB):c.73-10A>C rs376494419
NM_003000.2(SDHB):c.73-1G>T
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.765+8G>A rs1553177265
NM_003000.2(SDHB):c.765G>C (p.Lys255Asn)
NM_003000.2(SDHB):c.766-6T>C rs1553176984
NM_003000.2(SDHB):c.768T>C (p.Gly256=) rs1060505017
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.780dup (p.Lys261fs) rs1557738304
NM_003000.2(SDHB):c.782A>C (p.Lys261Thr) rs1553176980
NM_003000.2(SDHB):c.783A>G (p.Lys261=) rs1060505014
NM_003000.2(SDHB):c.784_787dup (p.Ile263fs) rs1553176976
NM_003000.2(SDHB):c.785_786insG (p.Ile263fs) rs1553176979
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.79C>T (p.Arg27Ter) 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.816C>G (p.Thr272=) rs1454454086
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>G (p.Ala3Gly) rs11203289
NM_003000.2(SDHB):c.8C>T (p.Ala3Val) rs11203289
NM_003000.2(SDHB):c.92C>T (p.Thr31Ile) rs1553178750
NM_003000.2(SDHB):c.95C>T (p.Ala32Val)
NM_003001.3(SDHC):c.10C>G (p.Leu4Val) rs770796603
NM_003001.3(SDHC):c.114G>C (p.Met38Ile) rs868556406
NM_003001.3(SDHC):c.116A>C (p.Glu39Ala) rs1060501388
NM_003001.3(SDHC):c.118C>G (p.Arg40Gly)
NM_003001.3(SDHC):c.118C>T (p.Arg40Trp) rs978019587
NM_003001.3(SDHC):c.119G>A (p.Arg40Gln) rs772450693
NM_003001.3(SDHC):c.11T>C (p.Leu4Pro) rs774299337
NM_003001.3(SDHC):c.120G>A (p.Arg40=) rs36097930
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.148C>T (p.Arg50Cys) rs587778661
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.162C>A (p.Pro54=) rs374450282
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+10G>A rs532455044
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.1A>G (p.Met1Val) rs755235380
NM_003001.3(SDHC):c.1A>T (p.Met1Leu)
NM_003001.3(SDHC):c.20+10G>A rs1060504224
NM_003001.3(SDHC):c.20+3G>A rs377566366
NM_003001.3(SDHC):c.20+7T>G rs1553260599
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.214C>T (p.Arg72Cys)
NM_003001.3(SDHC):c.215G>A (p.Arg72His) rs778582853
NM_003001.3(SDHC):c.215del (p.Arg72fs) rs1553264218
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.241+7A>G rs878854586
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.24C>T (p.His8=) 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>A (p.Gly94=) rs536197277
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.294T>C (p.Ser98=) rs376292127
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.309G>A (p.Val103=) rs768273090
NM_003001.3(SDHC):c.30T>C (p.Gly10=) rs1170595036
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.333A>G (p.Ala111=) rs950221552
NM_003001.3(SDHC):c.334C>G (p.Leu112Val)
NM_003001.3(SDHC):c.337A>G (p.Ile113Val) rs1558182863
NM_003001.3(SDHC):c.342C>T (p.His114=) rs143730978
NM_003001.3(SDHC):c.354T>C (p.Phe118=) rs61733156
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.372C>T (p.Leu124=) rs766007157
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.397C>T (p.Arg133Ter) rs764575966
NM_003001.3(SDHC):c.398G>A (p.Arg133Gln) rs386833414
NM_003001.3(SDHC):c.3G>A (p.Met1Ile) rs587776652
NM_003001.3(SDHC):c.402C>T (p.His134=) rs754213041
NM_003001.3(SDHC):c.403T>A (p.Leu135Met) rs1455783076
NM_003001.3(SDHC):c.405+1G>C rs587776653
NM_003001.3(SDHC):c.405+1G>T rs587776653
NM_003001.3(SDHC):c.405+1delG rs1558182956
NM_003001.3(SDHC):c.405+23C>T rs373731336
NM_003001.3(SDHC):c.406-10T>G rs1060504225
NM_003001.3(SDHC):c.406-3C>T rs372490900
NM_003001.3(SDHC):c.406-6C>G rs1337338303
NM_003001.3(SDHC):c.406-8G>T rs747093483
NM_003001.3(SDHC):c.406-?_*2318+?del
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.420A>G (p.Gly140=) rs794727791
NM_003001.3(SDHC):c.422A>G (p.Lys141Arg) rs1558185879
NM_003001.3(SDHC):c.42C>T (p.Leu14=) rs1331533952
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.43C>T (p.Arg15Ter) rs201286421
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.465C>G (p.Val155=) rs1060504223
NM_003001.3(SDHC):c.466C>T (p.Leu156=) rs1553266500
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.490A>T (p.Met164Leu) rs200375156
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.66C>G (p.Leu22=) rs778965036
NM_003001.3(SDHC):c.6T>C (p.Ala2=) rs775353334
NM_003001.3(SDHC):c.73A>G (p.Arg25Gly) rs878854587
NM_003001.3(SDHC):c.78-1G>T rs786202200
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.81T>C (p.Ala27=) rs876659297
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_003001.3(SDHC):c.99G>T (p.Thr33=) rs145535502
NM_003002.3(SDHD):c.-84_*831del
NM_003002.3(SDHD):c.315-3delT rs1566702297
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.10dup (p.Leu4fs) rs878854589
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.113G>C (p.Arg38Pro) rs199901239
NM_003002.4(SDHD):c.114A>G (p.Arg38=) rs1555186794
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.129G>A (p.Trp43Ter) rs104894308
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.13_14del (p.Trp5fs) rs1566690018
NM_003002.4(SDHD):c.140A>G (p.Gln47Arg) rs899706404
NM_003002.4(SDHD):c.141G>A (p.Gln47=) rs1217254088
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.149A>G (p.His50Arg) rs11214077
NM_003002.4(SDHD):c.155C>A (p.Ser52Ter) rs587782210
NM_003002.4(SDHD):c.158C>T (p.Pro53Leu) rs149516118
NM_003002.4(SDHD):c.159G>A (p.Pro53=) rs201368675
NM_003002.4(SDHD):c.167A>C (p.His56Pro) rs1555186817
NM_003002.4(SDHD):c.16A>G (p.Arg6Gly)
NM_003002.4(SDHD):c.170-10C>T rs952278127
NM_003002.4(SDHD):c.170-1G>T rs1306475361
NM_003002.4(SDHD):c.173del (p.Gly58fs) rs878854590
NM_003002.4(SDHD):c.176C>T (p.Ser59Phe)
NM_003002.4(SDHD):c.187_188TC[2] (p.Leu64fs) rs387906358
NM_003002.4(SDHD):c.18G>A (p.Arg6=) rs200895313
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.19C>T (p.Leu7=) rs1337542194
NM_003002.4(SDHD):c.1A>G (p.Met1Val) rs104894307
NM_003002.4(SDHD):c.1A>T (p.Met1Leu) rs104894307
NM_003002.4(SDHD):c.200C>A (p.Thr67Asn)
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552
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.21G>A (p.Leu7=) rs974401612
NM_003002.4(SDHD):c.224T>C (p.Leu75Ser) rs1060503777
NM_003002.4(SDHD):c.228C>T (p.Leu76=) rs148634289
NM_003002.4(SDHD):c.232G>C (p.Gly78Arg)
NM_003002.4(SDHD):c.238C>T (p.Leu80Phe)
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.4(SDHD):c.242del (p.Pro81fs) rs878854591
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.270G>A (p.Ala90=) rs766656463
NM_003002.4(SDHD):c.270G>C (p.Ala90=) rs766656463
NM_003002.4(SDHD):c.272T>A (p.Met91Lys)
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845
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.27C>A (p.Ala9=) rs1555186670
NM_003002.4(SDHD):c.281C>G (p.Ser94Cys) rs199754684
NM_003002.4(SDHD):c.281C>T (p.Ser94Phe)
NM_003002.4(SDHD):c.282C>G (p.Ser94=) rs781182616
NM_003002.4(SDHD):c.282C>T (p.Ser94=) rs781182616
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.297C>T (p.Leu99=) rs749657880
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.305A>T (p.His102Leu) rs104894302
NM_003002.4(SDHD):c.312C>T (p.His104=) rs61734352
NM_003002.4(SDHD):c.314+1G>A rs1555187083
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.314+8T>C rs199645781
NM_003002.4(SDHD):c.314G>A (p.Trp105Ter) rs1131691065
NM_003002.4(SDHD):c.315-3T>C rs1555187565
NM_003002.4(SDHD):c.315-7_315-5delinsAAA rs1060503775
NM_003002.4(SDHD):c.315-9T>G rs911853469
NM_003002.4(SDHD):c.315G>A (p.Trp105Ter) rs1060503769
NM_003002.4(SDHD):c.317G>T (p.Gly106Val) rs1555187574
NM_003002.4(SDHD):c.318C>A (p.Gly106=) rs878854592
NM_003002.4(SDHD):c.319C>T (p.Leu107Phe) rs1209781530
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003002.4(SDHD):c.325C>T (p.Gln109Ter) rs1060503770
NM_003002.4(SDHD):c.327A>G (p.Gln109=) rs1566702383
NM_003002.4(SDHD):c.328G>A (p.Val110Ile) rs1060503771
NM_003002.4(SDHD):c.331G>A (p.Val111Ile) rs201869798
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) rs199869408
NM_003002.4(SDHD):c.337_340del (p.Asp113fs) rs587776648
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) rs104894309
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter) rs1050032491
NM_003002.4(SDHD):c.342T>C (p.Tyr114=) rs1050032491
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591
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.361C>T (p.Gln121Ter) rs878854594
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.394del (p.Ser132fs) rs1060503773
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.3G>A (p.Met1Ile)