Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.19359530_19359613dupCA658684284PDHA1c.1071_1154dup (p.Arg385_Gly386insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg)
c.*742_*825dup (n.*742_*825dup)
c.1134_1217dup (p.Arg406_Gly407insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg)
c.1164_1247dup (p.Arg416_Gly417insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg)
n.845_928dup
c.*382_*465dup (n.*382_*465dup)
c.*505_*588dup (n.*505_*588dup)
c.1050_1133dup (p.Arg378_Gly379insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg)
c.207_290dup (p.Arg97_Gly98insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg)
n.489_572dup
c.957_1040dup (p.Arg347_Gly348insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg)
c.1185_1268dup (p.Arg423_Gly424insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg)
c.1092_1175dup (p.Arg392_Gly393insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg)
 ClinVar dbSNP
Xg.19359589_19359602delCA2580100441PDHA1c.1130_1143del (p.Ser377PhefsTer2)
c.*801_*814del (n.*801_*814del)
c.1193_1206del (p.Ser398PhefsTer2)
c.1223_1236del (p.Ser408PhefsTer2)
n.904_917del
c.*441_*454del (n.*441_*454del)
c.*564_*577del (n.*564_*577del)
c.1109_1122del (p.Ser370PhefsTer2)
c.266_279del (p.Ser89PhefsTer2)
n.548_561del
c.1016_1029del (p.Ser339PhefsTer2)
c.1244_1257del (p.Ser415PhefsTer2)
c.1151_1164del (p.Ser384PhefsTer2)
 ClinVar
Xg.19359593C>ACA412396978PDHA1c.1134C>A (p.Ser378Arg)
c.*805C>A (n.*805C>A)
c.1197C>A (p.Ser399Arg)
c.1227C>A (p.Ser409Arg)
n.908C>A
c.*445C>A (n.*445C>A)
c.*568C>A (n.*568C>A)
c.1113C>A (p.Ser371Arg)
c.270C>A (p.Ser90Arg)
n.552C>A
c.1020C>A (p.Ser340Arg)
c.1248C>A (p.Ser416Arg)
c.1155C>A (p.Ser385Arg)
 gnomAD v4
Xg.19359593C=CA2418225601PDHA1c.1134C= (p.Ser378=)
c.*805C= (n.*805C=)
c.1197C= (p.Ser399=)
c.1227C= (p.Ser409=)
n.908C=
c.*445C= (n.*445C=)
c.*568C= (n.*568C=)
c.1113C= (p.Ser371=)
c.270C= (p.Ser90=)
n.552C=
c.1020C= (p.Ser340=)
c.1248C= (p.Ser416=)
c.1155C= (p.Ser385=)
Xg.19359593C>GCA412396981PDHA1c.1134C>G (p.Ser378Arg)
c.*805C>G (n.*805C>G)
c.1197C>G (p.Ser399Arg)
c.1227C>G (p.Ser409Arg)
n.908C>G
c.*445C>G (n.*445C>G)
c.*568C>G (n.*568C>G)
c.1113C>G (p.Ser371Arg)
c.270C>G (p.Ser90Arg)
n.552C>G
c.1020C>G (p.Ser340Arg)
c.1248C>G (p.Ser416Arg)
c.1155C>G (p.Ser385Arg)
Xg.19359593C>TCA10363213PDHA1c.1134C>T (p.Ser378=)
c.*805C>T (n.*805C>T)
c.1197C>T (p.Ser399=)
c.1227C>T (p.Ser409=)
n.908C>T
c.*445C>T (n.*445C>T)
c.*568C>T (n.*568C>T)
c.1113C>T (p.Ser371=)
c.270C>T (p.Ser90=)
n.552C>T
c.1020C>T (p.Ser340=)
c.1248C>T (p.Ser416=)
c.1155C>T (p.Ser385=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359593_19359594insACATCTACTCCACCA2695231674PDHA1c.1134_1135insACATCTACTCCAC (p.Asp379ThrfsTer9)
c.*805_*806insACATCTACTCCAC (n.*805_*806insACATCTACTCCAC)
c.1197_1198insACATCTACTCCAC (p.Asp400ThrfsTer9)
c.1227_1228insACATCTACTCCAC (p.Asp410ThrfsTer9)
n.908_909insACATCTACTCCAC
c.*445_*446insACATCTACTCCAC (n.*445_*446insACATCTACTCCAC)
c.*568_*569insACATCTACTCCAC (n.*568_*569insACATCTACTCCAC)
c.1113_1114insACATCTACTCCAC (p.Asp372ThrfsTer9)
c.270_271insACATCTACTCCAC (p.Asp91ThrfsTer9)
n.552_553insACATCTACTCCAC
c.1020_1021insACATCTACTCCAC (p.Asp341ThrfsTer9)
c.1248_1249insACATCTACTCCAC (p.Asp417ThrfsTer9)
c.1155_1156insACATCTACTCCAC (p.Asp386ThrfsTer9)
Xg.19359594G>ACA10363214PDHA1c.1135G>A (p.Asp379Asn)
c.*806G>A (n.*806G>A)
c.1198G>A (p.Asp400Asn)
c.1228G>A (p.Asp410Asn)
n.909G>A
c.*446G>A (n.*446G>A)
c.*569G>A (n.*569G>A)
c.1114G>A (p.Asp372Asn)
c.271G>A (p.Asp91Asn)
n.553G>A
c.1021G>A (p.Asp341Asn)
c.1249G>A (p.Asp417Asn)
c.1156G>A (p.Asp386Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359594G>CCA412396993PDHA1c.1135G>C (p.Asp379His)
c.*806G>C (n.*806G>C)
c.1198G>C (p.Asp400His)
c.1228G>C (p.Asp410His)
n.909G>C
c.*446G>C (n.*446G>C)
c.*569G>C (n.*569G>C)
c.1114G>C (p.Asp372His)
c.271G>C (p.Asp91His)
n.553G>C
c.1021G>C (p.Asp341His)
c.1249G>C (p.Asp417His)
c.1156G>C (p.Asp386His)
Xg.19359594G=CA2418225602PDHA1c.1135G= (p.Asp379=)
c.*806G= (n.*806G=)
c.1198G= (p.Asp400=)
c.1228G= (p.Asp410=)
n.909G=
c.*446G= (n.*446G=)
c.*569G= (n.*569G=)
c.1114G= (p.Asp372=)
c.271G= (p.Asp91=)
n.553G=
c.1021G= (p.Asp341=)
c.1249G= (p.Asp417=)
c.1156G= (p.Asp386=)
Xg.19359594G>TCA412396987PDHA1c.1135G>T (p.Asp379Tyr)
c.*806G>T (n.*806G>T)
c.1198G>T (p.Asp400Tyr)
c.1228G>T (p.Asp410Tyr)
n.909G>T
c.*446G>T (n.*446G>T)
c.*569G>T (n.*569G>T)
c.1114G>T (p.Asp372Tyr)
c.271G>T (p.Asp91Tyr)
n.553G>T
c.1021G>T (p.Asp341Tyr)
c.1249G>T (p.Asp417Tyr)
c.1156G>T (p.Asp386Tyr)
Xg.19359595A>CCA412396997PDHA1c.1136A>C (p.Asp379Ala)
c.*807A>C (n.*807A>C)
c.1199A>C (p.Asp400Ala)
c.1229A>C (p.Asp410Ala)
n.910A>C
c.*447A>C (n.*447A>C)
c.*570A>C (n.*570A>C)
c.1115A>C (p.Asp372Ala)
c.272A>C (p.Asp91Ala)
n.554A>C
c.1022A>C (p.Asp341Ala)
c.1250A>C (p.Asp417Ala)
c.1157A>C (p.Asp386Ala)
Xg.19359595A>GCA412396999PDHA1c.1136A>G (p.Asp379Gly)
c.*807A>G (n.*807A>G)
c.1199A>G (p.Asp400Gly)
c.1229A>G (p.Asp410Gly)
n.910A>G
c.*447A>G (n.*447A>G)
c.*570A>G (n.*570A>G)
c.1115A>G (p.Asp372Gly)
c.272A>G (p.Asp91Gly)
n.554A>G
c.1022A>G (p.Asp341Gly)
c.1250A>G (p.Asp417Gly)
c.1157A>G (p.Asp386Gly)
 COSMIC COSMIC COSMIC
Xg.19359595A>TCA412397001PDHA1c.1136A>T (p.Asp379Val)
c.*807A>T (n.*807A>T)
c.1199A>T (p.Asp400Val)
c.1229A>T (p.Asp410Val)
n.910A>T
c.*447A>T (n.*447A>T)
c.*570A>T (n.*570A>T)
c.1115A>T (p.Asp372Val)
c.272A>T (p.Asp91Val)
n.554A>T
c.1022A>T (p.Asp341Val)
c.1250A>T (p.Asp417Val)
c.1157A>T (p.Asp386Val)
Xg.19359596C>ACA412397004PDHA1c.1137C>A (p.Asp379Glu)
c.*808C>A (n.*808C>A)
c.1200C>A (p.Asp400Glu)
c.1230C>A (p.Asp410Glu)
n.911C>A
c.*448C>A (n.*448C>A)
c.*571C>A (n.*571C>A)
c.1116C>A (p.Asp372Glu)
c.273C>A (p.Asp91Glu)
n.555C>A
c.1023C>A (p.Asp341Glu)
c.1251C>A (p.Asp417Glu)
c.1158C>A (p.Asp386Glu)
 gnomAD v4
Xg.19359596C>GCA412397006PDHA1c.1137C>G (p.Asp379Glu)
c.*808C>G (n.*808C>G)
c.1200C>G (p.Asp400Glu)
c.1230C>G (p.Asp410Glu)
n.911C>G
c.*448C>G (n.*448C>G)
c.*571C>G (n.*571C>G)
c.1116C>G (p.Asp372Glu)
c.273C>G (p.Asp91Glu)
n.555C>G
c.1023C>G (p.Asp341Glu)
c.1251C>G (p.Asp417Glu)
c.1158C>G (p.Asp386Glu)
Xg.19359596C>TCA515486462PDHA1c.1137C>T (p.Asp379=)
c.*808C>T (n.*808C>T)
c.1200C>T (p.Asp400=)
c.1230C>T (p.Asp410=)
n.911C>T
c.*448C>T (n.*448C>T)
c.*571C>T (n.*571C>T)
c.1116C>T (p.Asp372=)
c.273C>T (p.Asp91=)
n.555C>T
c.1023C>T (p.Asp341=)
c.1251C>T (p.Asp417=)
c.1158C>T (p.Asp386=)
 gnomAD v4
Xg.19359596_19359608delinsCCCACCTTTTGAACA2418225603PDHA1c.1137_1149delinsCCCACCTTTTGAA (p.Asp379=)
c.*808_*820delinsCCCACCTTTTGAA (n.*808_*820delinsCCCACCTTTTGAA)
c.1200_1212delinsCCCACCTTTTGAA (p.Asp400=)
c.1230_1242delinsCCCACCTTTTGAA (p.Asp410=)
n.911_923delinsCCCACCTTTTGAA
c.*448_*460delinsCCCACCTTTTGAA (n.*448_*460delinsCCCACCTTTTGAA)
c.*571_*583delinsCCCACCTTTTGAA (n.*571_*583delinsCCCACCTTTTGAA)
c.1116_1128delinsCCCACCTTTTGAA (p.Asp372=)
c.273_285delinsCCCACCTTTTGAA (p.Asp91=)
n.555_567delinsCCCACCTTTTGAA
c.1023_1035delinsCCCACCTTTTGAA (p.Asp341=)
c.1251_1263delinsCCCACCTTTTGAA (p.Asp417=)
c.1158_1170delinsCCCACCTTTTGAA (p.Asp386=)
Xg.19359597C>ACA412397014PDHA1c.1138C>A (p.Pro380Thr)
c.*809C>A (n.*809C>A)
c.1201C>A (p.Pro401Thr)
c.1231C>A (p.Pro411Thr)
n.912C>A
c.*449C>A (n.*449C>A)
c.*572C>A (n.*572C>A)
c.1117C>A (p.Pro373Thr)
c.274C>A (p.Pro92Thr)
n.556C>A
c.1024C>A (p.Pro342Thr)
c.1252C>A (p.Pro418Thr)
c.1159C>A (p.Pro387Thr)
Xg.19359597C=CA2418225604PDHA1c.1138C= (p.Pro380=)
c.*809C= (n.*809C=)
c.1201C= (p.Pro401=)
c.1231C= (p.Pro411=)
n.912C=
c.*449C= (n.*449C=)
c.*572C= (n.*572C=)
c.1117C= (p.Pro373=)
c.274C= (p.Pro92=)
n.556C=
c.1024C= (p.Pro342=)
c.1252C= (p.Pro418=)
c.1159C= (p.Pro387=)
Xg.19359597C>GCA412397011PDHA1c.1138C>G (p.Pro380Ala)
c.*809C>G (n.*809C>G)
c.1201C>G (p.Pro401Ala)
c.1231C>G (p.Pro411Ala)
n.912C>G
c.*449C>G (n.*449C>G)
c.*572C>G (n.*572C>G)
c.1117C>G (p.Pro373Ala)
c.274C>G (p.Pro92Ala)
n.556C>G
c.1024C>G (p.Pro342Ala)
c.1252C>G (p.Pro418Ala)
c.1159C>G (p.Pro387Ala)
Xg.19359597C>TCA10363215PDHA1c.1138C>T (p.Pro380Ser)
c.*809C>T (n.*809C>T)
c.1201C>T (p.Pro401Ser)
c.1231C>T (p.Pro411Ser)
n.912C>T
c.*449C>T (n.*449C>T)
c.*572C>T (n.*572C>T)
c.1117C>T (p.Pro373Ser)
c.274C>T (p.Pro92Ser)
n.556C>T
c.1024C>T (p.Pro342Ser)
c.1252C>T (p.Pro418Ser)
c.1159C>T (p.Pro387Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19359597_19359608delCA915950758PDHA1c.1138_1149del (p.Pro380_Glu383del)
c.*809_*820del (n.*809_*820del)
c.1201_1212del (p.Pro401_Glu404del)
c.1231_1242del (p.Pro411_Glu414del)
n.912_923del
c.*449_*460del (n.*449_*460del)
c.*572_*583del (n.*572_*583del)
c.1117_1128del (p.Pro373_Glu376del)
c.274_285del (p.Pro92_Glu95del)
n.556_567del
c.1024_1035del (p.Pro342_Glu345del)
c.1252_1263del (p.Pro418_Glu421del)
c.1159_1170del (p.Pro387_Glu390del)
 ClinVar dbSNP
Xg.19359598C>ACA412397017PDHA1c.1139C>A (p.Pro380Gln)
c.*810C>A (n.*810C>A)
c.1202C>A (p.Pro401Gln)
c.1232C>A (p.Pro411Gln)
n.913C>A
c.*450C>A (n.*450C>A)
c.*573C>A (n.*573C>A)
c.1118C>A (p.Pro373Gln)
c.275C>A (p.Pro92Gln)
n.557C>A
c.1025C>A (p.Pro342Gln)
c.1253C>A (p.Pro418Gln)
c.1160C>A (p.Pro387Gln)
Xg.19359598C=CA2418225605PDHA1c.1139C= (p.Pro380=)
c.*810C= (n.*810C=)
c.1202C= (p.Pro401=)
c.1232C= (p.Pro411=)
n.913C=
c.*450C= (n.*450C=)
c.*573C= (n.*573C=)
c.1118C= (p.Pro373=)
c.275C= (p.Pro92=)
n.557C=
c.1025C= (p.Pro342=)
c.1253C= (p.Pro418=)
c.1160C= (p.Pro387=)
Xg.19359598C>GCA412397019PDHA1c.1139C>G (p.Pro380Arg)
c.*810C>G (n.*810C>G)
c.1202C>G (p.Pro401Arg)
c.1232C>G (p.Pro411Arg)
n.913C>G
c.*450C>G (n.*450C>G)
c.*573C>G (n.*573C>G)
c.1118C>G (p.Pro373Arg)
c.275C>G (p.Pro92Arg)
n.557C>G
c.1025C>G (p.Pro342Arg)
c.1253C>G (p.Pro418Arg)
c.1160C>G (p.Pro387Arg)
Xg.19359598C>TCA10363216PDHA1c.1139C>T (p.Pro380Leu)
c.*810C>T (n.*810C>T)
c.1202C>T (p.Pro401Leu)
c.1232C>T (p.Pro411Leu)
n.913C>T
c.*450C>T (n.*450C>T)
c.*573C>T (n.*573C>T)
c.1118C>T (p.Pro373Leu)
c.275C>T (p.Pro92Leu)
n.557C>T
c.1025C>T (p.Pro342Leu)
c.1253C>T (p.Pro418Leu)
c.1160C>T (p.Pro387Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19359599A>CCA515486465PDHA1c.1140A>C (p.Pro380=)
c.*811A>C (n.*811A>C)
c.1203A>C (p.Pro401=)
c.1233A>C (p.Pro411=)
n.914A>C
c.*451A>C (n.*451A>C)
c.*574A>C (n.*574A>C)
c.1119A>C (p.Pro373=)
c.276A>C (p.Pro92=)
n.558A>C
c.1026A>C (p.Pro342=)
c.1254A>C (p.Pro418=)
c.1161A>C (p.Pro387=)
Xg.19359599A>GCA515486463PDHA1c.1140A>G (p.Pro380=)
c.*811A>G (n.*811A>G)
c.1203A>G (p.Pro401=)
c.1233A>G (p.Pro411=)
n.914A>G
c.*451A>G (n.*451A>G)
c.*574A>G (n.*574A>G)
c.1119A>G (p.Pro373=)
c.276A>G (p.Pro92=)
n.558A>G
c.1026A>G (p.Pro342=)
c.1254A>G (p.Pro418=)
c.1161A>G (p.Pro387=)
Xg.19359599A>TCA515486464PDHA1c.1140A>T (p.Pro380=)
c.*811A>T (n.*811A>T)
c.1203A>T (p.Pro401=)
c.1233A>T (p.Pro411=)
n.914A>T
c.*451A>T (n.*451A>T)
c.*574A>T (n.*574A>T)
c.1119A>T (p.Pro373=)
c.276A>T (p.Pro92=)
n.558A>T
c.1026A>T (p.Pro342=)
c.1254A>T (p.Pro418=)
c.1161A>T (p.Pro387=)
Xg.19359600C>ACA412397022PDHA1c.1141C>A (p.Pro381Thr)
c.*812C>A (n.*812C>A)
c.1204C>A (p.Pro402Thr)
c.1234C>A (p.Pro412Thr)
n.915C>A
c.*452C>A (n.*452C>A)
c.*575C>A (n.*575C>A)
c.1120C>A (p.Pro374Thr)
c.277C>A (p.Pro93Thr)
n.559C>A
c.1027C>A (p.Pro343Thr)
c.1255C>A (p.Pro419Thr)
c.1162C>A (p.Pro388Thr)
Xg.19359600C>GCA412397024PDHA1c.1141C>G (p.Pro381Ala)
c.*812C>G (n.*812C>G)
c.1204C>G (p.Pro402Ala)
c.1234C>G (p.Pro412Ala)
n.915C>G
c.*452C>G (n.*452C>G)
c.*575C>G (n.*575C>G)
c.1120C>G (p.Pro374Ala)
c.277C>G (p.Pro93Ala)
n.559C>G
c.1027C>G (p.Pro343Ala)
c.1255C>G (p.Pro419Ala)
c.1162C>G (p.Pro388Ala)
Xg.19359600C>TCA412397026PDHA1c.1141C>T (p.Pro381Ser)
c.*812C>T (n.*812C>T)
c.1204C>T (p.Pro402Ser)
c.1234C>T (p.Pro412Ser)
n.915C>T
c.*452C>T (n.*452C>T)
c.*575C>T (n.*575C>T)
c.1120C>T (p.Pro374Ser)
c.277C>T (p.Pro93Ser)
n.559C>T
c.1027C>T (p.Pro343Ser)
c.1255C>T (p.Pro419Ser)
c.1162C>T (p.Pro388Ser)
Xg.19359601C>ACA412397030PDHA1c.1142C>A (p.Pro381His)
c.*813C>A (n.*813C>A)
c.1205C>A (p.Pro402His)
c.1235C>A (p.Pro412His)
n.916C>A
c.*453C>A (n.*453C>A)
c.*576C>A (n.*576C>A)
c.1121C>A (p.Pro374His)
c.278C>A (p.Pro93His)
n.560C>A
c.1028C>A (p.Pro343His)
c.1256C>A (p.Pro419His)
c.1163C>A (p.Pro388His)
Xg.19359601C>GCA412397032PDHA1c.1142C>G (p.Pro381Arg)
c.*813C>G (n.*813C>G)
c.1205C>G (p.Pro402Arg)
c.1235C>G (p.Pro412Arg)
n.916C>G
c.*453C>G (n.*453C>G)
c.*576C>G (n.*576C>G)
c.1121C>G (p.Pro374Arg)
c.278C>G (p.Pro93Arg)
n.560C>G
c.1028C>G (p.Pro343Arg)
c.1256C>G (p.Pro419Arg)
c.1163C>G (p.Pro388Arg)
Xg.19359601C>TCA412397031PDHA1c.1142C>T (p.Pro381Leu)
c.*813C>T (n.*813C>T)
c.1205C>T (p.Pro402Leu)
c.1235C>T (p.Pro412Leu)
n.916C>T
c.*453C>T (n.*453C>T)
c.*576C>T (n.*576C>T)
c.1121C>T (p.Pro374Leu)
c.278C>T (p.Pro93Leu)
n.560C>T
c.1028C>T (p.Pro343Leu)
c.1256C>T (p.Pro419Leu)
c.1163C>T (p.Pro388Leu)
Xg.19359602T>ACA515486466PDHA1c.1143T>A (p.Pro381=)
c.*814T>A (n.*814T>A)
c.1206T>A (p.Pro402=)
c.1236T>A (p.Pro412=)
n.917T>A
c.*454T>A (n.*454T>A)
c.*577T>A (n.*577T>A)
c.1122T>A (p.Pro374=)
c.279T>A (p.Pro93=)
n.561T>A
c.1029T>A (p.Pro343=)
c.1257T>A (p.Pro419=)
c.1164T>A (p.Pro388=)
Xg.19359602T>CCA515486467PDHA1c.1143T>C (p.Pro381=)
c.*814T>C (n.*814T>C)
c.1206T>C (p.Pro402=)
c.1236T>C (p.Pro412=)
n.917T>C
c.*454T>C (n.*454T>C)
c.*577T>C (n.*577T>C)
c.1122T>C (p.Pro374=)
c.279T>C (p.Pro93=)
n.561T>C
c.1029T>C (p.Pro343=)
c.1257T>C (p.Pro419=)
c.1164T>C (p.Pro388=)
Xg.19359602T>GCA515486468PDHA1c.1143T>G (p.Pro381=)
c.*814T>G (n.*814T>G)
c.1206T>G (p.Pro402=)
c.1236T>G (p.Pro412=)
n.917T>G
c.*454T>G (n.*454T>G)
c.*577T>G (n.*577T>G)
c.1122T>G (p.Pro374=)
c.279T>G (p.Pro93=)
n.561T>G
c.1029T>G (p.Pro343=)
c.1257T>G (p.Pro419=)
c.1164T>G (p.Pro388=)
Xg.19359604_19359605dupCA2695231675PDHA1c.1145_1146dup (p.Glu383LeufsTer?)
c.*816_*817dup (n.*816_*817dup)
c.1208_1209dup (p.Glu404LeufsTer?)
c.1238_1239dup (p.Glu414LeufsTer?)
n.919_920dup
c.*456_*457dup (n.*456_*457dup)
c.*579_*580dup (n.*579_*580dup)
c.1124_1125dup (p.Glu376LeufsTer?)
c.281_282dup (p.Glu95LeufsTer?)
n.563_564dup
c.1031_1032dup (p.Glu345LeufsTer?)
c.1259_1260dup (p.Glu421LeufsTer?)
c.1166_1167dup (p.Glu390LeufsTer?)
Xg.19359605delCA515486469PDHA1c.1146del (p.Phe382LeufsTer?)
c.*817del (n.*817del)
c.1209del (p.Phe403LeufsTer?)
c.1239del (p.Phe413LeufsTer?)
n.920del
c.*457del (n.*457del)
c.*580del (n.*580del)
c.1125del (p.Phe375LeufsTer?)
c.282del (p.Phe94LeufsTer?)
n.564del
c.1032del (p.Phe344LeufsTer?)
c.1260del (p.Phe420LeufsTer?)
c.1167del (p.Phe389LeufsTer?)
 COSMIC COSMIC
Xg.19359603T>ACA412397033PDHA1c.1144T>A (p.Phe382Ile)
c.*815T>A (n.*815T>A)
c.1207T>A (p.Phe403Ile)
c.1237T>A (p.Phe413Ile)
n.918T>A
c.*455T>A (n.*455T>A)
c.*578T>A (n.*578T>A)
c.1123T>A (p.Phe375Ile)
c.280T>A (p.Phe94Ile)
n.562T>A
c.1030T>A (p.Phe344Ile)
c.1258T>A (p.Phe420Ile)
c.1165T>A (p.Phe389Ile)
Xg.19359603T>CCA412397035PDHA1c.1144T>C (p.Phe382Leu)
c.*815T>C (n.*815T>C)
c.1207T>C (p.Phe403Leu)
c.1237T>C (p.Phe413Leu)
n.918T>C
c.*455T>C (n.*455T>C)
c.*578T>C (n.*578T>C)
c.1123T>C (p.Phe375Leu)
c.280T>C (p.Phe94Leu)
n.562T>C
c.1030T>C (p.Phe344Leu)
c.1258T>C (p.Phe420Leu)
c.1165T>C (p.Phe389Leu)
Xg.19359603T>GCA412397037PDHA1c.1144T>G (p.Phe382Val)
c.*815T>G (n.*815T>G)
c.1207T>G (p.Phe403Val)
c.1237T>G (p.Phe413Val)
n.918T>G
c.*455T>G (n.*455T>G)
c.*578T>G (n.*578T>G)
c.1123T>G (p.Phe375Val)
c.280T>G (p.Phe94Val)
n.562T>G
c.1030T>G (p.Phe344Val)
c.1258T>G (p.Phe420Val)
c.1165T>G (p.Phe389Val)
Xg.19359604T>ACA412397040PDHA1c.1145T>A (p.Phe382Tyr)
c.*816T>A (n.*816T>A)
c.1208T>A (p.Phe403Tyr)
c.1238T>A (p.Phe413Tyr)
n.919T>A
c.*456T>A (n.*456T>A)
c.*579T>A (n.*579T>A)
c.1124T>A (p.Phe375Tyr)
c.281T>A (p.Phe94Tyr)
n.563T>A
c.1031T>A (p.Phe344Tyr)
c.1259T>A (p.Phe420Tyr)
c.1166T>A (p.Phe389Tyr)
Xg.19359604T>CCA412397045PDHA1c.1145T>C (p.Phe382Ser)
c.*816T>C (n.*816T>C)
c.1208T>C (p.Phe403Ser)
c.1238T>C (p.Phe413Ser)
n.919T>C
c.*456T>C (n.*456T>C)
c.*579T>C (n.*579T>C)
c.1124T>C (p.Phe375Ser)
c.281T>C (p.Phe94Ser)
n.563T>C
c.1031T>C (p.Phe344Ser)
c.1259T>C (p.Phe420Ser)
c.1166T>C (p.Phe389Ser)
Xg.19359604T>GCA412397047PDHA1c.1145T>G (p.Phe382Cys)
c.*816T>G (n.*816T>G)
c.1208T>G (p.Phe403Cys)
c.1238T>G (p.Phe413Cys)
n.919T>G
c.*456T>G (n.*456T>G)
c.*579T>G (n.*579T>G)
c.1124T>G (p.Phe375Cys)
c.281T>G (p.Phe94Cys)
n.563T>G
c.1031T>G (p.Phe344Cys)
c.1259T>G (p.Phe420Cys)
c.1166T>G (p.Phe389Cys)
Xg.19359605T>ACA412397050PDHA1c.1146T>A (p.Phe382Leu)
c.*817T>A (n.*817T>A)
c.1209T>A (p.Phe403Leu)
c.1239T>A (p.Phe413Leu)
n.920T>A
c.*457T>A (n.*457T>A)
c.*580T>A (n.*580T>A)
c.1125T>A (p.Phe375Leu)
c.282T>A (p.Phe94Leu)
n.564T>A
c.1032T>A (p.Phe344Leu)
c.1260T>A (p.Phe420Leu)
c.1167T>A (p.Phe389Leu)
Xg.19359605T>CCA515486470PDHA1c.1146T>C (p.Phe382=)
c.*817T>C (n.*817T>C)
c.1209T>C (p.Phe403=)
c.1239T>C (p.Phe413=)
n.920T>C
c.*457T>C (n.*457T>C)
c.*580T>C (n.*580T>C)
c.1125T>C (p.Phe375=)
c.282T>C (p.Phe94=)
n.564T>C
c.1032T>C (p.Phe344=)
c.1260T>C (p.Phe420=)
c.1167T>C (p.Phe389=)
Xg.19359605T>GCA412397053PDHA1c.1146T>G (p.Phe382Leu)
c.*817T>G (n.*817T>G)
c.1209T>G (p.Phe403Leu)
c.1239T>G (p.Phe413Leu)
n.920T>G
c.*457T>G (n.*457T>G)
c.*580T>G (n.*580T>G)
c.1125T>G (p.Phe375Leu)
c.282T>G (p.Phe94Leu)
n.564T>G
c.1032T>G (p.Phe344Leu)
c.1260T>G (p.Phe420Leu)
c.1167T>G (p.Phe389Leu)
Xg.19359606G>ACA412397057PDHA1c.1147G>A (p.Glu383Lys)
c.*818G>A (n.*818G>A)
c.1210G>A (p.Glu404Lys)
c.1240G>A (p.Glu414Lys)
n.921G>A
c.*458G>A (n.*458G>A)
c.*581G>A (n.*581G>A)
c.1126G>A (p.Glu376Lys)
c.283G>A (p.Glu95Lys)
n.565G>A
c.1033G>A (p.Glu345Lys)
c.1261G>A (p.Glu421Lys)
c.1168G>A (p.Glu390Lys)
Xg.19359606G>CCA412397059PDHA1c.1147G>C (p.Glu383Gln)
c.*818G>C (n.*818G>C)
c.1210G>C (p.Glu404Gln)
c.1240G>C (p.Glu414Gln)
n.921G>C
c.*458G>C (n.*458G>C)
c.*581G>C (n.*581G>C)
c.1126G>C (p.Glu376Gln)
c.283G>C (p.Glu95Gln)
n.565G>C
c.1033G>C (p.Glu345Gln)
c.1261G>C (p.Glu421Gln)
c.1168G>C (p.Glu390Gln)
Xg.19359606G>TCA412397061PDHA1c.1147G>T (p.Glu383Ter)
c.*818G>T (n.*818G>T)
c.1210G>T (p.Glu404Ter)
c.1240G>T (p.Glu414Ter)
n.921G>T
c.*458G>T (n.*458G>T)
c.*581G>T (n.*581G>T)
c.1126G>T (p.Glu376Ter)
c.283G>T (p.Glu95Ter)
n.565G>T
c.1033G>T (p.Glu345Ter)
c.1261G>T (p.Glu421Ter)
c.1168G>T (p.Glu390Ter)
Xg.19359607A>CCA412397069PDHA1c.1148A>C (p.Glu383Ala)
c.*819A>C (n.*819A>C)
c.1211A>C (p.Glu404Ala)
c.1241A>C (p.Glu414Ala)
n.922A>C
c.*459A>C (n.*459A>C)
c.*582A>C (n.*582A>C)
c.1127A>C (p.Glu376Ala)
c.284A>C (p.Glu95Ala)
n.566A>C
c.1034A>C (p.Glu345Ala)
c.1262A>C (p.Glu421Ala)
c.1169A>C (p.Glu390Ala)
Xg.19359607A>GCA412397066PDHA1c.1148A>G (p.Glu383Gly)
c.*819A>G (n.*819A>G)
c.1211A>G (p.Glu404Gly)
c.1241A>G (p.Glu414Gly)
n.922A>G
c.*459A>G (n.*459A>G)
c.*582A>G (n.*582A>G)
c.1127A>G (p.Glu376Gly)
c.284A>G (p.Glu95Gly)
n.566A>G
c.1034A>G (p.Glu345Gly)
c.1262A>G (p.Glu421Gly)
c.1169A>G (p.Glu390Gly)
Xg.19359607A>TCA412397065PDHA1c.1148A>T (p.Glu383Val)
c.*819A>T (n.*819A>T)
c.1211A>T (p.Glu404Val)
c.1241A>T (p.Glu414Val)
n.922A>T
c.*459A>T (n.*459A>T)
c.*582A>T (n.*582A>T)
c.1127A>T (p.Glu376Val)
c.284A>T (p.Glu95Val)
n.566A>T
c.1034A>T (p.Glu345Val)
c.1262A>T (p.Glu421Val)
c.1169A>T (p.Glu390Val)
Xg.19359608A=CA2418225606PDHA1c.1149A= (p.Glu383=)
c.*820A= (n.*820A=)
c.1212A= (p.Glu404=)
c.1242A= (p.Glu414=)
n.923A=
c.*460A= (n.*460A=)
c.*583A= (n.*583A=)
c.1128A= (p.Glu376=)
c.285A= (p.Glu95=)
n.567A=
c.1035A= (p.Glu345=)
c.1263A= (p.Glu421=)
c.1170A= (p.Glu390=)
Xg.19359608A>CCA10363217PDHA1c.1149A>C (p.Glu383Asp)
c.*820A>C (n.*820A>C)
c.1212A>C (p.Glu404Asp)
c.1242A>C (p.Glu414Asp)
n.923A>C
c.*460A>C (n.*460A>C)
c.*583A>C (n.*583A>C)
c.1128A>C (p.Glu376Asp)
c.285A>C (p.Glu95Asp)
n.567A>C
c.1035A>C (p.Glu345Asp)
c.1263A>C (p.Glu421Asp)
c.1170A>C (p.Glu390Asp)
 dbSNP ExAC gnomAD v2
Xg.19359608A>GCA515486471PDHA1c.1149A>G (p.Glu383=)
c.*820A>G (n.*820A>G)
c.1212A>G (p.Glu404=)
c.1242A>G (p.Glu414=)
n.923A>G
c.*460A>G (n.*460A>G)
c.*583A>G (n.*583A>G)
c.1128A>G (p.Glu376=)
c.285A>G (p.Glu95=)
n.567A>G
c.1035A>G (p.Glu345=)
c.1263A>G (p.Glu421=)
c.1170A>G (p.Glu390=)
Xg.19359608A>TCA412397075PDHA1c.1149A>T (p.Glu383Asp)
c.*820A>T (n.*820A>T)
c.1212A>T (p.Glu404Asp)
c.1242A>T (p.Glu414Asp)
n.923A>T
c.*460A>T (n.*460A>T)
c.*583A>T (n.*583A>T)
c.1128A>T (p.Glu376Asp)
c.285A>T (p.Glu95Asp)
n.567A>T
c.1035A>T (p.Glu345Asp)
c.1263A>T (p.Glu421Asp)
c.1170A>T (p.Glu390Asp)
Xg.19359609G>ACA412397079PDHA1c.1150G>A (p.Val384Ile)
c.*821G>A (n.*821G>A)
c.1213G>A (p.Val405Ile)
c.1243G>A (p.Val415Ile)
n.924G>A
c.*461G>A (n.*461G>A)
c.*584G>A (n.*584G>A)
c.1129G>A (p.Val377Ile)
c.286G>A (p.Val96Ile)
n.568G>A
c.1036G>A (p.Val346Ile)
c.1264G>A (p.Val422Ile)
c.1171G>A (p.Val391Ile)
Xg.19359609G>CCA412397084PDHA1c.1150G>C (p.Val384Leu)
c.*821G>C (n.*821G>C)
c.1213G>C (p.Val405Leu)
c.1243G>C (p.Val415Leu)
n.924G>C
c.*461G>C (n.*461G>C)
c.*584G>C (n.*584G>C)
c.1129G>C (p.Val377Leu)
c.286G>C (p.Val96Leu)
n.568G>C
c.1036G>C (p.Val346Leu)
c.1264G>C (p.Val422Leu)
c.1171G>C (p.Val391Leu)
Xg.19359609G>TCA412397082PDHA1c.1150G>T (p.Val384Phe)
c.*821G>T (n.*821G>T)
c.1213G>T (p.Val405Phe)
c.1243G>T (p.Val415Phe)
n.924G>T
c.*461G>T (n.*461G>T)
c.*584G>T (n.*584G>T)
c.1129G>T (p.Val377Phe)
c.286G>T (p.Val96Phe)
n.568G>T
c.1036G>T (p.Val346Phe)
c.1264G>T (p.Val422Phe)
c.1171G>T (p.Val391Phe)
Xg.19359610T>ACA412397089PDHA1c.1151T>A (p.Val384Asp)
c.*822T>A (n.*822T>A)
c.1214T>A (p.Val405Asp)
c.1244T>A (p.Val415Asp)
n.925T>A
c.*462T>A (n.*462T>A)
c.*585T>A (n.*585T>A)
c.1130T>A (p.Val377Asp)
c.287T>A (p.Val96Asp)
n.569T>A
c.1037T>A (p.Val346Asp)
c.1265T>A (p.Val422Asp)
c.1172T>A (p.Val391Asp)
Xg.19359610T>CCA412397093PDHA1c.1151T>C (p.Val384Ala)
c.*822T>C (n.*822T>C)
c.1214T>C (p.Val405Ala)
c.1244T>C (p.Val415Ala)
n.925T>C
c.*462T>C (n.*462T>C)
c.*585T>C (n.*585T>C)
c.1130T>C (p.Val377Ala)
c.287T>C (p.Val96Ala)
n.569T>C
c.1037T>C (p.Val346Ala)
c.1265T>C (p.Val422Ala)
c.1172T>C (p.Val391Ala)
Xg.19359610T>GCA412397096PDHA1c.1151T>G (p.Val384Gly)
c.*822T>G (n.*822T>G)
c.1214T>G (p.Val405Gly)
c.1244T>G (p.Val415Gly)
n.925T>G
c.*462T>G (n.*462T>G)
c.*585T>G (n.*585T>G)
c.1130T>G (p.Val377Gly)
c.287T>G (p.Val96Gly)
n.569T>G
c.1037T>G (p.Val346Gly)
c.1265T>G (p.Val422Gly)
c.1172T>G (p.Val391Gly)
Xg.19359611T>ACA515486472PDHA1c.1152T>A (p.Val384=)
c.*823T>A (n.*823T>A)
c.1215T>A (p.Val405=)
c.1245T>A (p.Val415=)
n.926T>A
c.*463T>A (n.*463T>A)
c.*586T>A (n.*586T>A)
c.1131T>A (p.Val377=)
c.288T>A (p.Val96=)
n.570T>A
c.1038T>A (p.Val346=)
c.1266T>A (p.Val422=)
c.1173T>A (p.Val391=)
Xg.19359611T>CCA515486474PDHA1c.1152T>C (p.Val384=)
c.*823T>C (n.*823T>C)
c.1215T>C (p.Val405=)
c.1245T>C (p.Val415=)
n.926T>C
c.*463T>C (n.*463T>C)
c.*586T>C (n.*586T>C)
c.1131T>C (p.Val377=)
c.288T>C (p.Val96=)
n.570T>C
c.1038T>C (p.Val346=)
c.1266T>C (p.Val422=)
c.1173T>C (p.Val391=)
 gnomAD v4
Xg.19359611T>GCA515486473PDHA1c.1152T>G (p.Val384=)
c.*823T>G (n.*823T>G)
c.1215T>G (p.Val405=)
c.1245T>G (p.Val415=)
n.926T>G
c.*463T>G (n.*463T>G)
c.*586T>G (n.*586T>G)
c.1131T>G (p.Val377=)
c.288T>G (p.Val96=)
n.570T>G
c.1038T>G (p.Val346=)
c.1266T>G (p.Val422=)
c.1173T>G (p.Val391=)
Xg.19359612C>ACA412397100PDHA1c.1153C>A (p.Arg385Ser)
c.*824C>A (n.*824C>A)
c.1216C>A (p.Arg406Ser)
c.1246C>A (p.Arg416Ser)
n.927C>A
c.*464C>A (n.*464C>A)
c.*587C>A (n.*587C>A)
c.1132C>A (p.Arg378Ser)
c.289C>A (p.Arg97Ser)
n.571C>A
c.1039C>A (p.Arg347Ser)
c.1267C>A (p.Arg423Ser)
c.1174C>A (p.Arg392Ser)
 COSMIC COSMIC COSMIC
Xg.19359612C=CA2418225607PDHA1c.1153C= (p.Arg385=)
c.*824C= (n.*824C=)
c.1216C= (p.Arg406=)
c.1246C= (p.Arg416=)
n.927C=
c.*464C= (n.*464C=)
c.*587C= (n.*587C=)
c.1132C= (p.Arg378=)
c.289C= (p.Arg97=)
n.571C=
c.1039C= (p.Arg347=)
c.1267C= (p.Arg423=)
c.1174C= (p.Arg392=)
Xg.19359612C>GCA412397102PDHA1c.1153C>G (p.Arg385Gly)
c.*824C>G (n.*824C>G)
c.1216C>G (p.Arg406Gly)
c.1246C>G (p.Arg416Gly)
n.927C>G
c.*464C>G (n.*464C>G)
c.*587C>G (n.*587C>G)
c.1132C>G (p.Arg378Gly)
c.289C>G (p.Arg97Gly)
n.571C>G
c.1039C>G (p.Arg347Gly)
c.1267C>G (p.Arg423Gly)
c.1174C>G (p.Arg392Gly)
Xg.19359612C>TCA323094PDHA1c.1153C>T (p.Arg385Cys)
c.*824C>T (n.*824C>T)
c.1216C>T (p.Arg406Cys)
c.1246C>T (p.Arg416Cys)
n.927C>T
c.*464C>T (n.*464C>T)
c.*587C>T (n.*587C>T)
c.1132C>T (p.Arg378Cys)
c.289C>T (p.Arg97Cys)
n.571C>T
c.1039C>T (p.Arg347Cys)
c.1267C>T (p.Arg423Cys)
c.1174C>T (p.Arg392Cys)
 ClinVar dbSNP COSMIC COSMIC COSMIC
Xg.19359613_19359620delCA2573055208PDHA1c.1154_1161del (p.Arg385GlnfsTer7)
c.*825_*832del (n.*825_*832del)
c.1217_1224del (p.Arg406GlnfsTer7)
c.1247_1254del (p.Arg416GlnfsTer7)
n.928_935del
c.*465_*472del (n.*465_*472del)
c.*588_*595del (n.*588_*595del)
c.1133_1140del (p.Arg378GlnfsTer7)
c.290_297del (p.Arg97GlnfsTer7)
n.572_579del
c.1040_1047del (p.Arg347GlnfsTer7)
c.1268_1275del (p.Arg423GlnfsTer7)
c.1175_1182del (p.Arg392GlnfsTer7)
 ClinVar dbSNP
Xg.19359613G>ACA121205PDHA1c.1154G>A (p.Arg385His)
c.*825G>A (n.*825G>A)
c.1217G>A (p.Arg406His)
c.1247G>A (p.Arg416His)
n.928G>A
c.*465G>A (n.*465G>A)
c.*588G>A (n.*588G>A)
c.1133G>A (p.Arg378His)
c.290G>A (p.Arg97His)
n.572G>A
c.1040G>A (p.Arg347His)
c.1268G>A (p.Arg423His)
c.1175G>A (p.Arg392His)
 ClinVar dbSNP ExAC
Xg.19359613G>CCA412397111PDHA1c.1154G>C (p.Arg385Pro)
c.*825G>C (n.*825G>C)
c.1217G>C (p.Arg406Pro)
c.1247G>C (p.Arg416Pro)
n.928G>C
c.*465G>C (n.*465G>C)
c.*588G>C (n.*588G>C)
c.1133G>C (p.Arg378Pro)
c.290G>C (p.Arg97Pro)
n.572G>C
c.1040G>C (p.Arg347Pro)
c.1268G>C (p.Arg423Pro)
c.1175G>C (p.Arg392Pro)
Xg.19359613G=CA2418225608PDHA1c.1154G= (p.Arg385=)
c.*825G= (n.*825G=)
c.1217G= (p.Arg406=)
c.1247G= (p.Arg416=)
n.928G=
c.*465G= (n.*465G=)
c.*588G= (n.*588G=)
c.1133G= (p.Arg378=)
c.290G= (p.Arg97=)
n.572G=
c.1040G= (p.Arg347=)
c.1268G= (p.Arg423=)
c.1175G= (p.Arg392=)
Xg.19359613G>TCA10605241PDHA1c.1154G>T (p.Arg385Leu)
c.*825G>T (n.*825G>T)
c.1217G>T (p.Arg406Leu)
c.1247G>T (p.Arg416Leu)
n.928G>T
c.*465G>T (n.*465G>T)
c.*588G>T (n.*588G>T)
c.1133G>T (p.Arg378Leu)
c.290G>T (p.Arg97Leu)
n.572G>T
c.1040G>T (p.Arg347Leu)
c.1268G>T (p.Arg423Leu)
c.1175G>T (p.Arg392Leu)
 ClinVar dbSNP
Xg.19359614T>ACA515486475PDHA1c.1155T>A (p.Arg385=)
c.*826T>A (n.*826T>A)
c.1218T>A (p.Arg406=)
c.1248T>A (p.Arg416=)
n.929T>A
c.*466T>A (n.*466T>A)
c.*589T>A (n.*589T>A)
c.1134T>A (p.Arg378=)
c.291T>A (p.Arg97=)
n.573T>A
c.1041T>A (p.Arg347=)
c.1269T>A (p.Arg423=)
c.1176T>A (p.Arg392=)
 gnomAD v3 gnomAD v4
Xg.19359614T>CCA515486476PDHA1c.1155T>C (p.Arg385=)
c.*826T>C (n.*826T>C)
c.1218T>C (p.Arg406=)
c.1248T>C (p.Arg416=)
n.929T>C
c.*466T>C (n.*466T>C)
c.*589T>C (n.*589T>C)
c.1134T>C (p.Arg378=)
c.291T>C (p.Arg97=)
n.573T>C
c.1041T>C (p.Arg347=)
c.1269T>C (p.Arg423=)
c.1176T>C (p.Arg392=)
Xg.19359614T>GCA515486477PDHA1c.1155T>G (p.Arg385=)
c.*826T>G (n.*826T>G)
c.1218T>G (p.Arg406=)
c.1248T>G (p.Arg416=)
n.929T>G
c.*466T>G (n.*466T>G)
c.*589T>G (n.*589T>G)
c.1134T>G (p.Arg378=)
c.291T>G (p.Arg97=)
n.573T>G
c.1041T>G (p.Arg347=)
c.1269T>G (p.Arg423=)
c.1176T>G (p.Arg392=)
Xg.19359615G>ACA412397120PDHA1c.1156G>A (p.Gly386Ser)
c.*827G>A (n.*827G>A)
c.1219G>A (p.Gly407Ser)
c.1249G>A (p.Gly417Ser)
n.930G>A
c.*467G>A (n.*467G>A)
c.*590G>A (n.*590G>A)
c.1135G>A (p.Gly379Ser)
c.292G>A (p.Gly98Ser)
n.574G>A
c.1042G>A (p.Gly348Ser)
c.1270G>A (p.Gly424Ser)
c.1177G>A (p.Gly393Ser)
Xg.19359615G>CCA412397123PDHA1c.1156G>C (p.Gly386Arg)
c.*827G>C (n.*827G>C)
c.1219G>C (p.Gly407Arg)
c.1249G>C (p.Gly417Arg)
n.930G>C
c.*467G>C (n.*467G>C)
c.*590G>C (n.*590G>C)
c.1135G>C (p.Gly379Arg)
c.292G>C (p.Gly98Arg)
n.574G>C
c.1042G>C (p.Gly348Arg)
c.1270G>C (p.Gly424Arg)
c.1177G>C (p.Gly393Arg)
Xg.19359615G>TCA412397125PDHA1c.1156G>T (p.Gly386Cys)
c.*827G>T (n.*827G>T)
c.1219G>T (p.Gly407Cys)
c.1249G>T (p.Gly417Cys)
n.930G>T
c.*467G>T (n.*467G>T)
c.*590G>T (n.*590G>T)
c.1135G>T (p.Gly379Cys)
c.292G>T (p.Gly98Cys)
n.574G>T
c.1042G>T (p.Gly348Cys)
c.1270G>T (p.Gly424Cys)
c.1177G>T (p.Gly393Cys)
Xg.19359616G>ACA412397136PDHA1c.1157G>A (p.Gly386Asp)
c.*828G>A (n.*828G>A)
c.1220G>A (p.Gly407Asp)
c.1250G>A (p.Gly417Asp)
n.931G>A
c.*468G>A (n.*468G>A)
c.*591G>A (n.*591G>A)
c.1136G>A (p.Gly379Asp)
c.293G>A (p.Gly98Asp)
n.575G>A
c.1043G>A (p.Gly348Asp)
c.1271G>A (p.Gly424Asp)
c.1178G>A (p.Gly393Asp)
Xg.19359616G>CCA412397130PDHA1c.1157G>C (p.Gly386Ala)
c.*828G>C (n.*828G>C)
c.1220G>C (p.Gly407Ala)
c.1250G>C (p.Gly417Ala)
n.931G>C
c.*468G>C (n.*468G>C)
c.*591G>C (n.*591G>C)
c.1136G>C (p.Gly379Ala)
c.293G>C (p.Gly98Ala)
n.575G>C
c.1043G>C (p.Gly348Ala)
c.1271G>C (p.Gly424Ala)
c.1178G>C (p.Gly393Ala)
Xg.19359616G>TCA412397133PDHA1c.1157G>T (p.Gly386Val)
c.*828G>T (n.*828G>T)
c.1220G>T (p.Gly407Val)
c.1250G>T (p.Gly417Val)
n.931G>T
c.*468G>T (n.*468G>T)
c.*591G>T (n.*591G>T)
c.1136G>T (p.Gly379Val)
c.293G>T (p.Gly98Val)
n.575G>T
c.1043G>T (p.Gly348Val)
c.1271G>T (p.Gly424Val)
c.1178G>T (p.Gly393Val)
 ClinVar dbSNP COSMIC COSMIC COSMIC
Xg.19359617T>ACA515486478PDHA1c.1158T>A (p.Gly386=)
c.*829T>A (n.*829T>A)
c.1221T>A (p.Gly407=)
c.1251T>A (p.Gly417=)
n.932T>A
c.*469T>A (n.*469T>A)
c.*592T>A (n.*592T>A)
c.1137T>A (p.Gly379=)
c.294T>A (p.Gly98=)
n.576T>A
c.1044T>A (p.Gly348=)
c.1272T>A (p.Gly424=)
c.1179T>A (p.Gly393=)
Xg.19359617T>CCA10363218PDHA1c.1158T>C (p.Gly386=)
c.*829T>C (n.*829T>C)
c.1221T>C (p.Gly407=)
c.1251T>C (p.Gly417=)
n.932T>C
c.*469T>C (n.*469T>C)
c.*592T>C (n.*592T>C)
c.1137T>C (p.Gly379=)
c.294T>C (p.Gly98=)
n.576T>C
c.1044T>C (p.Gly348=)
c.1272T>C (p.Gly424=)
c.1179T>C (p.Gly393=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359617T>GCA515486479PDHA1c.1158T>G (p.Gly386=)
c.*829T>G (n.*829T>G)
c.1221T>G (p.Gly407=)
c.1251T>G (p.Gly417=)
n.932T>G
c.*469T>G (n.*469T>G)
c.*592T>G (n.*592T>G)
c.1137T>G (p.Gly379=)
c.294T>G (p.Gly98=)
n.576T>G
c.1044T>G (p.Gly348=)
c.1272T>G (p.Gly424=)
c.1179T>G (p.Gly393=)
Xg.19359617T=CA2418225609PDHA1c.1158T= (p.Gly386=)
c.*829T= (n.*829T=)
c.1221T= (p.Gly407=)
c.1251T= (p.Gly417=)
n.932T=
c.*469T= (n.*469T=)
c.*592T= (n.*592T=)
c.1137T= (p.Gly379=)
c.294T= (p.Gly98=)
n.576T=
c.1044T= (p.Gly348=)
c.1272T= (p.Gly424=)
c.1179T= (p.Gly393=)
Xg.19359618G>ACA412397143PDHA1c.1159G>A (p.Ala387Thr)
c.*830G>A (n.*830G>A)
c.1222G>A (p.Ala408Thr)
c.1252G>A (p.Ala418Thr)
n.933G>A
c.*470G>A (n.*470G>A)
c.*593G>A (n.*593G>A)
c.1138G>A (p.Ala380Thr)
c.295G>A (p.Ala99Thr)
n.577G>A
c.1045G>A (p.Ala349Thr)
c.1273G>A (p.Ala425Thr)
c.1180G>A (p.Ala394Thr)
Xg.19359618G>CCA412397146PDHA1c.1159G>C (p.Ala387Pro)
c.*830G>C (n.*830G>C)
c.1222G>C (p.Ala408Pro)
c.1252G>C (p.Ala418Pro)
n.933G>C
c.*470G>C (n.*470G>C)
c.*593G>C (n.*593G>C)
c.1138G>C (p.Ala380Pro)
c.295G>C (p.Ala99Pro)
n.577G>C
c.1045G>C (p.Ala349Pro)
c.1273G>C (p.Ala425Pro)
c.1180G>C (p.Ala394Pro)
Xg.19359618G>TCA412397149PDHA1c.1159G>T (p.Ala387Ser)
c.*830G>T (n.*830G>T)
c.1222G>T (p.Ala408Ser)
c.1252G>T (p.Ala418Ser)
n.933G>T
c.*470G>T (n.*470G>T)
c.*593G>T (n.*593G>T)
c.1138G>T (p.Ala380Ser)
c.295G>T (p.Ala99Ser)
n.577G>T
c.1045G>T (p.Ala349Ser)
c.1273G>T (p.Ala425Ser)
c.1180G>T (p.Ala394Ser)
Xg.19359619C>ACA412397157PDHA1c.1160C>A (p.Ala387Asp)
c.*831C>A (n.*831C>A)
c.1223C>A (p.Ala408Asp)
c.1253C>A (p.Ala418Asp)
n.934C>A
c.*471C>A (n.*471C>A)
c.*594C>A (n.*594C>A)
c.1139C>A (p.Ala380Asp)
c.296C>A (p.Ala99Asp)
n.578C>A
c.1046C>A (p.Ala349Asp)
c.1274C>A (p.Ala425Asp)
c.1181C>A (p.Ala394Asp)
Xg.19359619C=CA2418225610PDHA1c.1160C= (p.Ala387=)
c.*831C= (n.*831C=)
c.1223C= (p.Ala408=)
c.1253C= (p.Ala418=)
n.934C=
c.*471C= (n.*471C=)
c.*594C= (n.*594C=)
c.1139C= (p.Ala380=)
c.296C= (p.Ala99=)
n.578C=
c.1046C= (p.Ala349=)
c.1274C= (p.Ala425=)
c.1181C= (p.Ala394=)
Xg.19359619C>GCA412397161PDHA1c.1160C>G (p.Ala387Gly)
c.*831C>G (n.*831C>G)
c.1223C>G (p.Ala408Gly)
c.1253C>G (p.Ala418Gly)
n.934C>G
c.*471C>G (n.*471C>G)
c.*594C>G (n.*594C>G)
c.1139C>G (p.Ala380Gly)
c.296C>G (p.Ala99Gly)
n.578C>G
c.1046C>G (p.Ala349Gly)
c.1274C>G (p.Ala425Gly)
c.1181C>G (p.Ala394Gly)
Xg.19359619C>TCA412397163PDHA1c.1160C>T (p.Ala387Val)
c.*831C>T (n.*831C>T)
c.1223C>T (p.Ala408Val)
c.1253C>T (p.Ala418Val)
n.934C>T
c.*471C>T (n.*471C>T)
c.*594C>T (n.*594C>T)
c.1139C>T (p.Ala380Val)
c.296C>T (p.Ala99Val)
n.578C>T
c.1046C>T (p.Ala349Val)
c.1274C>T (p.Ala425Val)
c.1181C>T (p.Ala394Val)
 gnomAD v4
Xg.19359619_19359622dupCA2695231676PDHA1c.1160_1163dup (p.Trp390SerfsTer6)
c.*831_*834dup (n.*831_*834dup)
c.1223_1226dup (p.Trp411SerfsTer6)
c.1253_1256dup (p.Trp421SerfsTer6)
n.934_937dup
c.*471_*474dup (n.*471_*474dup)
c.*594_*597dup (n.*594_*597dup)
c.1139_1142dup (p.Trp383SerfsTer6)
c.296_299dup (p.Trp102SerfsTer6)
n.578_581dup
c.1046_1049dup (p.Trp352SerfsTer6)
c.1274_1277dup (p.Trp428SerfsTer6)
c.1181_1184dup (p.Trp397SerfsTer6)
Xg.19359620C>ACA515486481PDHA1c.1161C>A (p.Ala387=)
c.*832C>A (n.*832C>A)
c.1224C>A (p.Ala408=)
c.1254C>A (p.Ala418=)
n.935C>A
c.*472C>A (n.*472C>A)
c.*595C>A (n.*595C>A)
c.1140C>A (p.Ala380=)
c.297C>A (p.Ala99=)
n.579C>A
c.1047C>A (p.Ala349=)
c.1275C>A (p.Ala425=)
c.1182C>A (p.Ala394=)
Xg.19359620C>GCA515486482PDHA1c.1161C>G (p.Ala387=)
c.*832C>G (n.*832C>G)
c.1224C>G (p.Ala408=)
c.1254C>G (p.Ala418=)
n.935C>G
c.*472C>G (n.*472C>G)
c.*595C>G (n.*595C>G)
c.1140C>G (p.Ala380=)
c.297C>G (p.Ala99=)
n.579C>G
c.1047C>G (p.Ala349=)
c.1275C>G (p.Ala425=)
c.1182C>G (p.Ala394=)
Xg.19359620C>TCA515486480PDHA1c.1161C>T (p.Ala387=)
c.*832C>T (n.*832C>T)
c.1224C>T (p.Ala408=)
c.1254C>T (p.Ala418=)
n.935C>T
c.*472C>T (n.*472C>T)
c.*595C>T (n.*595C>T)
c.1140C>T (p.Ala380=)
c.297C>T (p.Ala99=)
n.579C>T
c.1047C>T (p.Ala349=)
c.1275C>T (p.Ala425=)
c.1182C>T (p.Ala394=)
Xg.19359622_19359625dupCA121215PDHA1c.1163_1166dup (p.Trp390SerfsTer6)
c.*834_*837dup (n.*834_*837dup)
c.1226_1229dup (p.Trp411SerfsTer6)
c.1256_1259dup (p.Trp421SerfsTer6)
n.937_940dup
c.*474_*477dup (n.*474_*477dup)
c.*597_*600dup (n.*597_*600dup)
c.1142_1145dup (p.Trp383SerfsTer6)
c.299_302dup (p.Trp102SerfsTer6)
n.581_584dup
c.1049_1052dup (p.Trp352SerfsTer6)
c.1277_1280dup (p.Trp428SerfsTer6)
c.1184_1187dup (p.Trp397SerfsTer6)
 ClinVar dbSNP
Xg.19359621A>CCA412397173PDHA1c.1162A>C (p.Asn388His)
c.*833A>C (n.*833A>C)
c.1225A>C (p.Asn409His)
c.1255A>C (p.Asn419His)
n.936A>C
c.*473A>C (n.*473A>C)
c.*596A>C (n.*596A>C)
c.1141A>C (p.Asn381His)
c.298A>C (p.Asn100His)
n.580A>C
c.1048A>C (p.Asn350His)
c.1276A>C (p.Asn426His)
c.1183A>C (p.Asn395His)
Xg.19359621A>GCA412397175PDHA1c.1162A>G (p.Asn388Asp)
c.*833A>G (n.*833A>G)
c.1225A>G (p.Asn409Asp)
c.1255A>G (p.Asn419Asp)
n.936A>G
c.*473A>G (n.*473A>G)
c.*596A>G (n.*596A>G)
c.1141A>G (p.Asn381Asp)
c.298A>G (p.Asn100Asp)
n.580A>G
c.1048A>G (p.Asn350Asp)
c.1276A>G (p.Asn426Asp)
c.1183A>G (p.Asn395Asp)
Xg.19359621A>TCA412397179PDHA1c.1162A>T (p.Asn388Tyr)
c.*833A>T (n.*833A>T)
c.1225A>T (p.Asn409Tyr)
c.1255A>T (p.Asn419Tyr)
n.936A>T
c.*473A>T (n.*473A>T)
c.*596A>T (n.*596A>T)
c.1141A>T (p.Asn381Tyr)
c.298A>T (p.Asn100Tyr)
n.580A>T
c.1048A>T (p.Asn350Tyr)
c.1276A>T (p.Asn426Tyr)
c.1183A>T (p.Asn395Tyr)
Xg.19359622A=CA2418225611PDHA1c.1163A= (p.Asn388=)
c.*834A= (n.*834A=)
c.1226A= (p.Asn409=)
c.1256A= (p.Asn419=)
n.937A=
c.*474A= (n.*474A=)
c.*597A= (n.*597A=)
c.1142A= (p.Asn381=)
c.299A= (p.Asn100=)
n.581A=
c.1049A= (p.Asn350=)
c.1277A= (p.Asn426=)
c.1184A= (p.Asn395=)
Xg.19359622A>CCA412397186PDHA1c.1163A>C (p.Asn388Thr)
c.*834A>C (n.*834A>C)
c.1226A>C (p.Asn409Thr)
c.1256A>C (p.Asn419Thr)
n.937A>C
c.*474A>C (n.*474A>C)
c.*597A>C (n.*597A>C)
c.1142A>C (p.Asn381Thr)
c.299A>C (p.Asn100Thr)
n.581A>C
c.1049A>C (p.Asn350Thr)
c.1277A>C (p.Asn426Thr)
c.1184A>C (p.Asn395Thr)
Xg.19359622A>GCA412397183PDHA1c.1163A>G (p.Asn388Ser)
c.*834A>G (n.*834A>G)
c.1226A>G (p.Asn409Ser)
c.1256A>G (p.Asn419Ser)
n.937A>G
c.*474A>G (n.*474A>G)
c.*597A>G (n.*597A>G)
c.1142A>G (p.Asn381Ser)
c.299A>G (p.Asn100Ser)
n.581A>G
c.1049A>G (p.Asn350Ser)
c.1277A>G (p.Asn426Ser)
c.1184A>G (p.Asn395Ser)
 ClinVar dbSNP gnomAD v4
Xg.19359622A>TCA412397189PDHA1c.1163A>T (p.Asn388Ile)
c.*834A>T (n.*834A>T)
c.1226A>T (p.Asn409Ile)
c.1256A>T (p.Asn419Ile)
n.937A>T
c.*474A>T (n.*474A>T)
c.*597A>T (n.*597A>T)
c.1142A>T (p.Asn381Ile)
c.299A>T (p.Asn100Ile)
n.581A>T
c.1049A>T (p.Asn350Ile)
c.1277A>T (p.Asn426Ile)
c.1184A>T (p.Asn395Ile)
Xg.19359626_19359633delCA2695231677PDHA1c.1167_1174del (p.Trp390ValfsTer2)
c.*838_*845del (n.*838_*845del)
c.1230_1237del (p.Trp411ValfsTer2)
c.1260_1267del (p.Trp421ValfsTer2)
n.941_948del
c.*478_*485del (n.*478_*485del)
c.*601_*608del (n.*601_*608del)
c.1146_1153del (p.Trp383ValfsTer2)
c.303_310del (p.Trp102ValfsTer2)
n.585_592del
c.1053_1060del (p.Trp352ValfsTer2)
c.1281_1288del (p.Trp428ValfsTer2)
c.1188_1195del (p.Trp397ValfsTer2)
Xg.19359623T>ACA412397193PDHA1c.1164T>A (p.Asn388Lys)
c.*835T>A (n.*835T>A)
c.1227T>A (p.Asn409Lys)
c.1257T>A (p.Asn419Lys)
n.938T>A
c.*475T>A (n.*475T>A)
c.*598T>A (n.*598T>A)
c.1143T>A (p.Asn381Lys)
c.300T>A (p.Asn100Lys)
n.582T>A
c.1050T>A (p.Asn350Lys)
c.1278T>A (p.Asn426Lys)
c.1185T>A (p.Asn395Lys)
Xg.19359623T>CCA515486483PDHA1c.1164T>C (p.Asn388=)
c.*835T>C (n.*835T>C)
c.1227T>C (p.Asn409=)
c.1257T>C (p.Asn419=)
n.938T>C
c.*475T>C (n.*475T>C)
c.*598T>C (n.*598T>C)
c.1143T>C (p.Asn381=)
c.300T>C (p.Asn100=)
n.582T>C
c.1050T>C (p.Asn350=)
c.1278T>C (p.Asn426=)
c.1185T>C (p.Asn395=)
Xg.19359623T>GCA412397194PDHA1c.1164T>G (p.Asn388Lys)
c.*835T>G (n.*835T>G)
c.1227T>G (p.Asn409Lys)
c.1257T>G (p.Asn419Lys)
n.938T>G
c.*475T>G (n.*475T>G)
c.*598T>G (n.*598T>G)
c.1143T>G (p.Asn381Lys)
c.300T>G (p.Asn100Lys)
n.582T>G
c.1050T>G (p.Asn350Lys)
c.1278T>G (p.Asn426Lys)
c.1185T>G (p.Asn395Lys)
 ClinVar
Xg.19359624C>ACA412397195PDHA1c.1165C>A (p.Gln389Lys)
c.*836C>A (n.*836C>A)
c.1228C>A (p.Gln410Lys)
c.1258C>A (p.Gln420Lys)
n.939C>A
c.*476C>A (n.*476C>A)
c.*599C>A (n.*599C>A)
c.1144C>A (p.Gln382Lys)
c.301C>A (p.Gln101Lys)
n.583C>A
c.1051C>A (p.Gln351Lys)
c.1279C>A (p.Gln427Lys)
c.1186C>A (p.Gln396Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.19359624C=CA2418225612PDHA1c.1165C= (p.Gln389=)
c.*836C= (n.*836C=)
c.1228C= (p.Gln410=)
c.1258C= (p.Gln420=)
n.939C=
c.*476C= (n.*476C=)
c.*599C= (n.*599C=)
c.1144C= (p.Gln382=)
c.301C= (p.Gln101=)
n.583C=
c.1051C= (p.Gln351=)
c.1279C= (p.Gln427=)
c.1186C= (p.Gln396=)
Xg.19359624C>GCA412397198PDHA1c.1165C>G (p.Gln389Glu)
c.*836C>G (n.*836C>G)
c.1228C>G (p.Gln410Glu)
c.1258C>G (p.Gln420Glu)
n.939C>G
c.*476C>G (n.*476C>G)
c.*599C>G (n.*599C>G)
c.1144C>G (p.Gln382Glu)
c.301C>G (p.Gln101Glu)
n.583C>G
c.1051C>G (p.Gln351Glu)
c.1279C>G (p.Gln427Glu)
c.1186C>G (p.Gln396Glu)
Xg.19359624C>TCA412397200PDHA1c.1165C>T (p.Gln389Ter)
c.*836C>T (n.*836C>T)
c.1228C>T (p.Gln410Ter)
c.1258C>T (p.Gln420Ter)
n.939C>T
c.*476C>T (n.*476C>T)
c.*599C>T (n.*599C>T)
c.1144C>T (p.Gln382Ter)
c.301C>T (p.Gln101Ter)
n.583C>T
c.1051C>T (p.Gln351Ter)
c.1279C>T (p.Gln427Ter)
c.1186C>T (p.Gln396Ter)
Xg.19359624_19359639dupCA2695231678PDHA1c.1165_1180dup (p.Lys394ThrfsTer6)
c.*836_*851dup (n.*836_*851dup)
c.1228_1243dup (p.Lys415ThrfsTer6)
c.1258_1273dup (p.Lys425ThrfsTer6)
n.939_954dup
c.*476_*491dup (n.*476_*491dup)
c.*599_*614dup (n.*599_*614dup)
c.1144_1159dup (p.Lys387ThrfsTer6)
c.301_316dup (p.Lys106ThrfsTer6)
n.583_598dup
c.1051_1066dup (p.Lys356ThrfsTer6)
c.1279_1294dup (p.Lys432ThrfsTer6)
c.1186_1201dup (p.Lys401ThrfsTer6)
Xg.19359625A>CCA412397205PDHA1c.1166A>C (p.Gln389Pro)
c.*837A>C (n.*837A>C)
c.1229A>C (p.Gln410Pro)
c.1259A>C (p.Gln420Pro)
n.940A>C
c.*477A>C (n.*477A>C)
c.*600A>C (n.*600A>C)
c.1145A>C (p.Gln382Pro)
c.302A>C (p.Gln101Pro)
n.584A>C
c.1052A>C (p.Gln351Pro)
c.1280A>C (p.Gln427Pro)
c.1187A>C (p.Gln396Pro)
Xg.19359625A>GCA412397209PDHA1c.1166A>G (p.Gln389Arg)
c.*837A>G (n.*837A>G)
c.1229A>G (p.Gln410Arg)
c.1259A>G (p.Gln420Arg)
n.940A>G
c.*477A>G (n.*477A>G)
c.*600A>G (n.*600A>G)
c.1145A>G (p.Gln382Arg)
c.302A>G (p.Gln101Arg)
n.584A>G
c.1052A>G (p.Gln351Arg)
c.1280A>G (p.Gln427Arg)
c.1187A>G (p.Gln396Arg)
Xg.19359625A>TCA412397212PDHA1c.1166A>T (p.Gln389Leu)
c.*837A>T (n.*837A>T)
c.1229A>T (p.Gln410Leu)
c.1259A>T (p.Gln420Leu)
n.940A>T
c.*477A>T (n.*477A>T)
c.*600A>T (n.*600A>T)
c.1145A>T (p.Gln382Leu)
c.302A>T (p.Gln101Leu)
n.584A>T
c.1052A>T (p.Gln351Leu)
c.1280A>T (p.Gln427Leu)
c.1187A>T (p.Gln396Leu)
Xg.19359626G>ACA515486484PDHA1c.1167G>A (p.Gln389=)
c.*838G>A (n.*838G>A)
c.1230G>A (p.Gln410=)
c.1260G>A (p.Gln420=)
n.941G>A
c.*478G>A (n.*478G>A)
c.*601G>A (n.*601G>A)
c.1146G>A (p.Gln382=)
c.303G>A (p.Gln101=)
n.585G>A
c.1053G>A (p.Gln351=)
c.1281G>A (p.Gln427=)
c.1188G>A (p.Gln396=)
 ClinVar dbSNP gnomAD v4
Xg.19359626G>CCA10363219PDHA1c.1167G>C (p.Gln389His)
c.*838G>C (n.*838G>C)
c.1230G>C (p.Gln410His)
c.1260G>C (p.Gln420His)
n.941G>C
c.*478G>C (n.*478G>C)
c.*601G>C (n.*601G>C)
c.1146G>C (p.Gln382His)
c.303G>C (p.Gln101His)
n.585G>C
c.1053G>C (p.Gln351His)
c.1281G>C (p.Gln427His)
c.1188G>C (p.Gln396His)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19359626G=CA2418225613PDHA1c.1167G= (p.Gln389=)
c.*838G= (n.*838G=)
c.1230G= (p.Gln410=)
c.1260G= (p.Gln420=)
n.941G=
c.*478G= (n.*478G=)
c.*601G= (n.*601G=)
c.1146G= (p.Gln382=)
c.303G= (p.Gln101=)
n.585G=
c.1053G= (p.Gln351=)
c.1281G= (p.Gln427=)
c.1188G= (p.Gln396=)
Xg.19359626G>TCA412397225PDHA1c.1167G>T (p.Gln389His)
c.*838G>T (n.*838G>T)
c.1230G>T (p.Gln410His)
c.1260G>T (p.Gln420His)
n.941G>T
c.*478G>T (n.*478G>T)
c.*601G>T (n.*601G>T)
c.1146G>T (p.Gln382His)
c.303G>T (p.Gln101His)
n.585G>T
c.1053G>T (p.Gln351His)
c.1281G>T (p.Gln427His)
c.1188G>T (p.Gln396His)
Xg.19359627T>ACA412397239PDHA1c.1168T>A (p.Trp390Arg)
c.*839T>A (n.*839T>A)
c.1231T>A (p.Trp411Arg)
c.1261T>A (p.Trp421Arg)
n.942T>A
c.*479T>A (n.*479T>A)
c.*602T>A (n.*602T>A)
c.1147T>A (p.Trp383Arg)
c.304T>A (p.Trp102Arg)
n.586T>A
c.1054T>A (p.Trp352Arg)
c.1282T>A (p.Trp428Arg)
c.1189T>A (p.Trp397Arg)
Xg.19359627T>CCA412397236PDHA1c.1168T>C (p.Trp390Arg)
c.*839T>C (n.*839T>C)
c.1231T>C (p.Trp411Arg)
c.1261T>C (p.Trp421Arg)
n.942T>C
c.*479T>C (n.*479T>C)
c.*602T>C (n.*602T>C)
c.1147T>C (p.Trp383Arg)
c.304T>C (p.Trp102Arg)
n.586T>C
c.1054T>C (p.Trp352Arg)
c.1282T>C (p.Trp428Arg)
c.1189T>C (p.Trp397Arg)
Xg.19359627T>GCA412397229PDHA1c.1168T>G (p.Trp390Gly)
c.*839T>G (n.*839T>G)
c.1231T>G (p.Trp411Gly)
c.1261T>G (p.Trp421Gly)
n.942T>G
c.*479T>G (n.*479T>G)
c.*602T>G (n.*602T>G)
c.1147T>G (p.Trp383Gly)
c.304T>G (p.Trp102Gly)
n.586T>G
c.1054T>G (p.Trp352Gly)
c.1282T>G (p.Trp428Gly)
c.1189T>G (p.Trp397Gly)
Xg.19359627_19359638dupCA2695231679PDHA1c.1168_1179dup (p.Phe393_Lys394insTrpIleLysPhe)
c.*839_*850dup (n.*839_*850dup)
c.1231_1242dup (p.Phe414_Lys415insTrpIleLysPhe)
c.1261_1272dup (p.Phe424_Lys425insTrpIleLysPhe)
n.942_953dup
c.*479_*490dup (n.*479_*490dup)
c.*602_*613dup (n.*602_*613dup)
c.1147_1158dup (p.Phe386_Lys387insTrpIleLysPhe)
c.304_315dup (p.Phe105_Lys106insTrpIleLysPhe)
n.586_597dup
c.1054_1065dup (p.Phe355_Lys356insTrpIleLysPhe)
c.1282_1293dup (p.Phe431_Lys432insTrpIleLysPhe)
c.1189_1200dup (p.Phe400_Lys401insTrpIleLysPhe)
Xg.19359628G>ACA412397247PDHA1c.1169G>A (p.Trp390Ter)
c.*840G>A (n.*840G>A)
c.1232G>A (p.Trp411Ter)
c.1262G>A (p.Trp421Ter)
n.943G>A
c.*480G>A (n.*480G>A)
c.*603G>A (n.*603G>A)
c.1148G>A (p.Trp383Ter)
c.305G>A (p.Trp102Ter)
n.587G>A
c.1055G>A (p.Trp352Ter)
c.1283G>A (p.Trp428Ter)
c.1190G>A (p.Trp397Ter)
 ClinVar
Xg.19359628G>CCA412397251PDHA1c.1169G>C (p.Trp390Ser)
c.*840G>C (n.*840G>C)
c.1232G>C (p.Trp411Ser)
c.1262G>C (p.Trp421Ser)
n.943G>C
c.*480G>C (n.*480G>C)
c.*603G>C (n.*603G>C)
c.1148G>C (p.Trp383Ser)
c.305G>C (p.Trp102Ser)
n.587G>C
c.1055G>C (p.Trp352Ser)
c.1283G>C (p.Trp428Ser)
c.1190G>C (p.Trp397Ser)
Xg.19359628G>TCA412397252PDHA1c.1169G>T (p.Trp390Leu)
c.*840G>T (n.*840G>T)
c.1232G>T (p.Trp411Leu)
c.1262G>T (p.Trp421Leu)
n.943G>T
c.*480G>T (n.*480G>T)
c.*603G>T (n.*603G>T)
c.1148G>T (p.Trp383Leu)
c.305G>T (p.Trp102Leu)
n.587G>T
c.1055G>T (p.Trp352Leu)
c.1283G>T (p.Trp428Leu)
c.1190G>T (p.Trp397Leu)
Xg.19359629G>ACA412397253PDHA1c.1170G>A (p.Trp390Ter)
c.*841G>A (n.*841G>A)
c.1233G>A (p.Trp411Ter)
c.1263G>A (p.Trp421Ter)
n.944G>A
c.*481G>A (n.*481G>A)
c.*604G>A (n.*604G>A)
c.1149G>A (p.Trp383Ter)
c.306G>A (p.Trp102Ter)
n.588G>A
c.1056G>A (p.Trp352Ter)
c.1284G>A (p.Trp428Ter)
c.1191G>A (p.Trp397Ter)
 ClinVar
Xg.19359629G>CCA412397255PDHA1c.1170G>C (p.Trp390Cys)
c.*841G>C (n.*841G>C)
c.1233G>C (p.Trp411Cys)
c.1263G>C (p.Trp421Cys)
n.944G>C
c.*481G>C (n.*481G>C)
c.*604G>C (n.*604G>C)
c.1149G>C (p.Trp383Cys)
c.306G>C (p.Trp102Cys)
n.588G>C
c.1056G>C (p.Trp352Cys)
c.1284G>C (p.Trp428Cys)
c.1191G>C (p.Trp397Cys)
Xg.19359629G>TCA412397259PDHA1c.1170G>T (p.Trp390Cys)
c.*841G>T (n.*841G>T)
c.1233G>T (p.Trp411Cys)
c.1263G>T (p.Trp421Cys)
n.944G>T
c.*481G>T (n.*481G>T)
c.*604G>T (n.*604G>T)
c.1149G>T (p.Trp383Cys)
c.306G>T (p.Trp102Cys)
n.588G>T
c.1056G>T (p.Trp352Cys)
c.1284G>T (p.Trp428Cys)
c.1191G>T (p.Trp397Cys)
Xg.19359630A=CA2418225614PDHA1c.1171A= (p.Ile391=)
c.*842A= (n.*842A=)
c.1234A= (p.Ile412=)
c.1264A= (p.Ile422=)
n.945A=
c.*482A= (n.*482A=)
c.*605A= (n.*605A=)
c.1150A= (p.Ile384=)
c.307A= (p.Ile103=)
n.589A=
c.1057A= (p.Ile353=)
c.1285A= (p.Ile429=)
c.1192A= (p.Ile398=)
Xg.19359630A>CCA10363220PDHA1c.1171A>C (p.Ile391Leu)
c.*842A>C (n.*842A>C)
c.1234A>C (p.Ile412Leu)
c.1264A>C (p.Ile422Leu)
n.945A>C
c.*482A>C (n.*482A>C)
c.*605A>C (n.*605A>C)
c.1150A>C (p.Ile384Leu)
c.307A>C (p.Ile103Leu)
n.589A>C
c.1057A>C (p.Ile353Leu)
c.1285A>C (p.Ile429Leu)
c.1192A>C (p.Ile398Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19359630A>GCA412397269PDHA1c.1171A>G (p.Ile391Val)
c.*842A>G (n.*842A>G)
c.1234A>G (p.Ile412Val)
c.1264A>G (p.Ile422Val)
n.945A>G
c.*482A>G (n.*482A>G)
c.*605A>G (n.*605A>G)
c.1150A>G (p.Ile384Val)
c.307A>G (p.Ile103Val)
n.589A>G
c.1057A>G (p.Ile353Val)
c.1285A>G (p.Ile429Val)
c.1192A>G (p.Ile398Val)
Xg.19359630A>TCA412397273PDHA1c.1171A>T (p.Ile391Phe)
c.*842A>T (n.*842A>T)
c.1234A>T (p.Ile412Phe)
c.1264A>T (p.Ile422Phe)
n.945A>T
c.*482A>T (n.*482A>T)
c.*605A>T (n.*605A>T)
c.1150A>T (p.Ile384Phe)
c.307A>T (p.Ile103Phe)
n.589A>T
c.1057A>T (p.Ile353Phe)
c.1285A>T (p.Ile429Phe)
c.1192A>T (p.Ile398Phe)
Xg.19359631T>ACA412397280PDHA1c.1172T>A (p.Ile391Asn)
c.*843T>A (n.*843T>A)
c.1235T>A (p.Ile412Asn)
c.1265T>A (p.Ile422Asn)
n.946T>A
c.*483T>A (n.*483T>A)
c.*606T>A (n.*606T>A)
c.1151T>A (p.Ile384Asn)
c.308T>A (p.Ile103Asn)
n.590T>A
c.1058T>A (p.Ile353Asn)
c.1286T>A (p.Ile429Asn)
c.1193T>A (p.Ile398Asn)
Xg.19359631T>CCA412397283PDHA1c.1172T>C (p.Ile391Thr)
c.*843T>C (n.*843T>C)
c.1235T>C (p.Ile412Thr)
c.1265T>C (p.Ile422Thr)
n.946T>C
c.*483T>C (n.*483T>C)
c.*606T>C (n.*606T>C)
c.1151T>C (p.Ile384Thr)
c.308T>C (p.Ile103Thr)
n.590T>C
c.1058T>C (p.Ile353Thr)
c.1286T>C (p.Ile429Thr)
c.1193T>C (p.Ile398Thr)
Xg.19359631T>GCA412397288PDHA1c.1172T>G (p.Ile391Ser)
c.*843T>G (n.*843T>G)
c.1235T>G (p.Ile412Ser)
c.1265T>G (p.Ile422Ser)
n.946T>G
c.*483T>G (n.*483T>G)
c.*606T>G (n.*606T>G)
c.1151T>G (p.Ile384Ser)
c.308T>G (p.Ile103Ser)
n.590T>G
c.1058T>G (p.Ile353Ser)
c.1286T>G (p.Ile429Ser)
c.1193T>G (p.Ile398Ser)
Xg.19359632_19359651delCA2697552884PDHA1c.1173_1192del (p.Lys392ArgfsTer?)
c.*844_*863del (n.*844_*863del)
c.1236_1255del (p.Lys413ArgfsTer?)
c.1266_1285del (p.Lys423ArgfsTer?)
n.947_966del
c.*484_*503del (n.*484_*503del)
c.*607_*626del (n.*607_*626del)
c.1152_1171del (p.Lys385ArgfsTer?)
c.309_328del (p.Lys104ArgfsTer?)
n.591_610del
c.1059_1078del (p.Lys354ArgfsTer?)
c.1287_1306del (p.Lys430ArgfsTer?)
c.1194_1213del (p.Lys399ArgfsTer?)
 ClinVar
Xg.19359632C>ACA515486485PDHA1c.1173C>A (p.Ile391=)
c.*844C>A (n.*844C>A)
c.1236C>A (p.Ile412=)
c.1266C>A (p.Ile422=)
n.947C>A
c.*484C>A (n.*484C>A)
c.*607C>A (n.*607C>A)
c.1152C>A (p.Ile384=)
c.309C>A (p.Ile103=)
n.591C>A
c.1059C>A (p.Ile353=)
c.1287C>A (p.Ile429=)
c.1194C>A (p.Ile398=)
Xg.19359632C=CA2418225615PDHA1c.1173C= (p.Ile391=)
c.*844C= (n.*844C=)
c.1236C= (p.Ile412=)
c.1266C= (p.Ile422=)
n.947C=
c.*484C= (n.*484C=)
c.*607C= (n.*607C=)
c.1152C= (p.Ile384=)
c.309C= (p.Ile103=)
n.591C=
c.1059C= (p.Ile353=)
c.1287C= (p.Ile429=)
c.1194C= (p.Ile398=)
Xg.19359632C>GCA10363221PDHA1c.1173C>G (p.Ile391Met)
c.*844C>G (n.*844C>G)
c.1236C>G (p.Ile412Met)
c.1266C>G (p.Ile422Met)
n.947C>G
c.*484C>G (n.*484C>G)
c.*607C>G (n.*607C>G)
c.1152C>G (p.Ile384Met)
c.309C>G (p.Ile103Met)
n.591C>G
c.1059C>G (p.Ile353Met)
c.1287C>G (p.Ile429Met)
c.1194C>G (p.Ile398Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19359632C>TCA515486486PDHA1c.1173C>T (p.Ile391=)
c.*844C>T (n.*844C>T)
c.1236C>T (p.Ile412=)
c.1266C>T (p.Ile422=)
n.947C>T
c.*484C>T (n.*484C>T)
c.*607C>T (n.*607C>T)
c.1152C>T (p.Ile384=)
c.309C>T (p.Ile103=)
n.591C>T
c.1059C>T (p.Ile353=)
c.1287C>T (p.Ile429=)
c.1194C>T (p.Ile398=)
Xg.19359633A>CCA412397293PDHA1c.1174A>C (p.Lys392Gln)
c.*845A>C (n.*845A>C)
c.1237A>C (p.Lys413Gln)
c.1267A>C (p.Lys423Gln)
n.948A>C
c.*485A>C (n.*485A>C)
c.*608A>C (n.*608A>C)
c.1153A>C (p.Lys385Gln)
c.310A>C (p.Lys104Gln)
n.592A>C
c.1060A>C (p.Lys354Gln)
c.1288A>C (p.Lys430Gln)
c.1195A>C (p.Lys399Gln)
Xg.19359633A>GCA412397296PDHA1c.1174A>G (p.Lys392Glu)
c.*845A>G (n.*845A>G)
c.1237A>G (p.Lys413Glu)
c.1267A>G (p.Lys423Glu)
n.948A>G
c.*485A>G (n.*485A>G)
c.*608A>G (n.*608A>G)
c.1153A>G (p.Lys385Glu)
c.310A>G (p.Lys104Glu)
n.592A>G
c.1060A>G (p.Lys354Glu)
c.1288A>G (p.Lys430Glu)
c.1195A>G (p.Lys399Glu)
Xg.19359633A>TCA412397292PDHA1c.1174A>T (p.Lys392Ter)
c.*845A>T (n.*845A>T)
c.1237A>T (p.Lys413Ter)
c.1267A>T (p.Lys423Ter)
n.948A>T
c.*485A>T (n.*485A>T)
c.*608A>T (n.*608A>T)
c.1153A>T (p.Lys385Ter)
c.310A>T (p.Lys104Ter)
n.592A>T
c.1060A>T (p.Lys354Ter)
c.1288A>T (p.Lys430Ter)
c.1195A>T (p.Lys399Ter)
Xg.19359633_19359635dupCA2695231682PDHA1c.1174_1176dup (p.Lys392_Phe393insLys)
c.*845_*847dup (n.*845_*847dup)
c.1237_1239dup (p.Lys413_Phe414insLys)
c.1267_1269dup (p.Lys423_Phe424insLys)
n.948_950dup
c.*485_*487dup (n.*485_*487dup)
c.*608_*610dup (n.*608_*610dup)
c.1153_1155dup (p.Lys385_Phe386insLys)
c.310_312dup (p.Lys104_Phe105insLys)
n.592_594dup
c.1060_1062dup (p.Lys354_Phe355insLys)
c.1288_1290dup (p.Lys430_Phe431insLys)
c.1195_1197dup (p.Lys399_Phe400insLys)
Xg.19359637_19359642dupCA2695231680PDHA1c.1178_1183dup (p.Lys394_Ser395insPheLys)
c.*849_*854dup (n.*849_*854dup)
c.1241_1246dup (p.Lys415_Ser416insPheLys)
c.1271_1276dup (p.Lys425_Ser426insPheLys)
n.952_957dup
c.*489_*494dup (n.*489_*494dup)
c.*612_*617dup (n.*612_*617dup)
c.1157_1162dup (p.Lys387_Ser388insPheLys)
c.314_319dup (p.Lys106_Ser107insPheLys)
n.596_601dup
c.1064_1069dup (p.Lys356_Ser357insPheLys)
c.1292_1297dup (p.Lys432_Ser433insPheLys)
c.1199_1204dup (p.Lys401_Ser402insPheLys)
Xg.19359637_19359642delCA2695231681PDHA1c.1178_1183del (p.Phe393_Lys394del)
c.*849_*854del (n.*849_*854del)
c.1241_1246del (p.Phe414_Lys415del)
c.1271_1276del (p.Phe424_Lys425del)
n.952_957del
c.*489_*494del (n.*489_*494del)
c.*612_*617del (n.*612_*617del)
c.1157_1162del (p.Phe386_Lys387del)
c.314_319del (p.Phe105_Lys106del)
n.596_601del
c.1064_1069del (p.Phe355_Lys356del)
c.1292_1297del (p.Phe431_Lys432del)
c.1199_1204del (p.Phe400_Lys401del)
Xg.19359634A=CA2418225616PDHA1c.1175A= (p.Lys392=)
c.*846A= (n.*846A=)
c.1238A= (p.Lys413=)
c.1268A= (p.Lys423=)
n.949A=
c.*486A= (n.*486A=)
c.*609A= (n.*609A=)
c.1154A= (p.Lys385=)
c.311A= (p.Lys104=)
n.593A=
c.1061A= (p.Lys354=)
c.1289A= (p.Lys430=)
c.1196A= (p.Lys399=)
Xg.19359634A>CCA412397299PDHA1c.1175A>C (p.Lys392Thr)
c.*846A>C (n.*846A>C)
c.1238A>C (p.Lys413Thr)
c.1268A>C (p.Lys423Thr)
n.949A>C
c.*486A>C (n.*486A>C)
c.*609A>C (n.*609A>C)
c.1154A>C (p.Lys385Thr)
c.311A>C (p.Lys104Thr)
n.593A>C
c.1061A>C (p.Lys354Thr)
c.1289A>C (p.Lys430Thr)
c.1196A>C (p.Lys399Thr)
 dbSNP gnomAD v2
Xg.19359634A>GCA412397302PDHA1c.1175A>G (p.Lys392Arg)
c.*846A>G (n.*846A>G)
c.1238A>G (p.Lys413Arg)
c.1268A>G (p.Lys423Arg)
n.949A>G
c.*486A>G (n.*486A>G)
c.*609A>G (n.*609A>G)
c.1154A>G (p.Lys385Arg)
c.311A>G (p.Lys104Arg)
n.593A>G
c.1061A>G (p.Lys354Arg)
c.1289A>G (p.Lys430Arg)
c.1196A>G (p.Lys399Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.19359634A>TCA412397303PDHA1c.1175A>T (p.Lys392Met)
c.*846A>T (n.*846A>T)
c.1238A>T (p.Lys413Met)
c.1268A>T (p.Lys423Met)
n.949A>T
c.*486A>T (n.*486A>T)
c.*609A>T (n.*609A>T)
c.1154A>T (p.Lys385Met)
c.311A>T (p.Lys104Met)
n.593A>T
c.1061A>T (p.Lys354Met)
c.1289A>T (p.Lys430Met)
c.1196A>T (p.Lys399Met)
Xg.19359635G>ACA515486487PDHA1c.1176G>A (p.Lys392=)
c.*847G>A (n.*847G>A)
c.1239G>A (p.Lys413=)
c.1269G>A (p.Lys423=)
n.950G>A
c.*487G>A (n.*487G>A)
c.*610G>A (n.*610G>A)
c.1155G>A (p.Lys385=)
c.312G>A (p.Lys104=)
n.594G>A
c.1062G>A (p.Lys354=)
c.1290G>A (p.Lys430=)
c.1197G>A (p.Lys399=)
Xg.19359635G>CCA412397304PDHA1c.1176G>C (p.Lys392Asn)
c.*847G>C (n.*847G>C)
c.1239G>C (p.Lys413Asn)
c.1269G>C (p.Lys423Asn)
n.950G>C
c.*487G>C (n.*487G>C)
c.*610G>C (n.*610G>C)
c.1155G>C (p.Lys385Asn)
c.312G>C (p.Lys104Asn)
n.594G>C
c.1062G>C (p.Lys354Asn)
c.1290G>C (p.Lys430Asn)
c.1197G>C (p.Lys399Asn)
Xg.19359635G>TCA412397305PDHA1c.1176G>T (p.Lys392Asn)
c.*847G>T (n.*847G>T)
c.1239G>T (p.Lys413Asn)
c.1269G>T (p.Lys423Asn)
n.950G>T
c.*487G>T (n.*487G>T)
c.*610G>T (n.*610G>T)
c.1155G>T (p.Lys385Asn)
c.312G>T (p.Lys104Asn)
n.594G>T
c.1062G>T (p.Lys354Asn)
c.1290G>T (p.Lys430Asn)
c.1197G>T (p.Lys399Asn)
Xg.19359636T>ACA412397317PDHA1c.1177T>A (p.Phe393Ile)
c.*848T>A (n.*848T>A)
c.1240T>A (p.Phe414Ile)
c.1270T>A (p.Phe424Ile)
n.951T>A
c.*488T>A (n.*488T>A)
c.*611T>A (n.*611T>A)
c.1156T>A (p.Phe386Ile)
c.313T>A (p.Phe105Ile)
n.595T>A
c.1063T>A (p.Phe355Ile)
c.1291T>A (p.Phe431Ile)
c.1198T>A (p.Phe400Ile)
Xg.19359636T>CCA412397313PDHA1c.1177T>C (p.Phe393Leu)
c.*848T>C (n.*848T>C)
c.1240T>C (p.Phe414Leu)
c.1270T>C (p.Phe424Leu)
n.951T>C
c.*488T>C (n.*488T>C)
c.*611T>C (n.*611T>C)
c.1156T>C (p.Phe386Leu)
c.313T>C (p.Phe105Leu)
n.595T>C
c.1063T>C (p.Phe355Leu)
c.1291T>C (p.Phe431Leu)
c.1198T>C (p.Phe400Leu)
Xg.19359636T>GCA412397309PDHA1c.1177T>G (p.Phe393Val)
c.*848T>G (n.*848T>G)
c.1240T>G (p.Phe414Val)
c.1270T>G (p.Phe424Val)
n.951T>G
c.*488T>G (n.*488T>G)
c.*611T>G (n.*611T>G)
c.1156T>G (p.Phe386Val)
c.313T>G (p.Phe105Val)
n.595T>G
c.1063T>G (p.Phe355Val)
c.1291T>G (p.Phe431Val)
c.1198T>G (p.Phe400Val)
Xg.19359636T=CA2418225617PDHA1c.1177T= (p.Phe393=)
c.*848T= (n.*848T=)
c.1240T= (p.Phe414=)
c.1270T= (p.Phe424=)
n.951T=
c.*488T= (n.*488T=)
c.*611T= (n.*611T=)
c.1156T= (p.Phe386=)
c.313T= (p.Phe105=)
n.595T=
c.1063T= (p.Phe355=)
c.1291T= (p.Phe431=)
c.1198T= (p.Phe400=)
Xg.19359638dupCA2695231683PDHA1c.1179dup (p.Lys394Ter)
c.*850dup (n.*850dup)
c.1242dup (p.Lys415Ter)
c.1272dup (p.Lys425Ter)
n.953dup
c.*490dup (n.*490dup)
c.*613dup (n.*613dup)
c.1158dup (p.Lys387Ter)
c.315dup (p.Lys106Ter)
n.597dup
c.1065dup (p.Lys356Ter)
c.1293dup (p.Lys432Ter)
c.1200dup (p.Lys401Ter)
Xg.19359637T>ACA412397324PDHA1c.1178T>A (p.Phe393Tyr)
c.*849T>A (n.*849T>A)
c.1241T>A (p.Phe414Tyr)
c.1271T>A (p.Phe424Tyr)
n.952T>A
c.*489T>A (n.*489T>A)
c.*612T>A (n.*612T>A)
c.1157T>A (p.Phe386Tyr)
c.314T>A (p.Phe105Tyr)
n.596T>A
c.1064T>A (p.Phe355Tyr)
c.1292T>A (p.Phe431Tyr)
c.1199T>A (p.Phe400Tyr)
Xg.19359637T>CCA412397327PDHA1c.1178T>C (p.Phe393Ser)
c.*849T>C (n.*849T>C)
c.1241T>C (p.Phe414Ser)
c.1271T>C (p.Phe424Ser)
n.952T>C
c.*489T>C (n.*489T>C)
c.*612T>C (n.*612T>C)
c.1157T>C (p.Phe386Ser)
c.314T>C (p.Phe105Ser)
n.596T>C
c.1064T>C (p.Phe355Ser)
c.1292T>C (p.Phe431Ser)
c.1199T>C (p.Phe400Ser)
Xg.19359637T>GCA412397331PDHA1c.1178T>G (p.Phe393Cys)
c.*849T>G (n.*849T>G)
c.1241T>G (p.Phe414Cys)
c.1271T>G (p.Phe424Cys)
n.952T>G
c.*489T>G (n.*489T>G)
c.*612T>G (n.*612T>G)
c.1157T>G (p.Phe386Cys)
c.314T>G (p.Phe105Cys)
n.596T>G
c.1064T>G (p.Phe355Cys)
c.1292T>G (p.Phe431Cys)
c.1199T>G (p.Phe400Cys)
Xg.19359637T=CA2418225618PDHA1c.1178T= (p.Phe393=)
c.*849T= (n.*849T=)
c.1241T= (p.Phe414=)
c.1271T= (p.Phe424=)
n.952T=
c.*489T= (n.*489T=)
c.*612T= (n.*612T=)
c.1157T= (p.Phe386=)
c.314T= (p.Phe105=)
n.596T=
c.1064T= (p.Phe355=)
c.1292T= (p.Phe431=)
c.1199T= (p.Phe400=)
Xg.19359637_19359653dupCA873742943PDHA1c.1178_1194dup (n.1178_1194dup)
c.*849_*865dup (n.*849_*865dup)
c.1241_1257dup (n.1241_1257dup)
c.1271_1287dup (n.1271_1287dup)
n.952_968dup
c.*489_*505dup (n.*489_*505dup)
c.*612_*628dup (n.*612_*628dup)
c.1157_1173dup (n.1157_1173dup)
c.314_330dup (n.314_330dup)
n.596_612dup
c.1064_1080dup (n.1064_1080dup)
c.1292_1308dup (n.1292_1308dup)
c.1199_1215dup (n.1199_1215dup)
 dbSNP gnomAD v3 gnomAD v4
Xg.19359642_19359654delCA2499226556PDHA1c.1183_*1del (n.[c.1183_*1del;Ser395GlyfsTer?])
c.*854_*866del (n.*854_*866del)
c.1246_*1del (n.[c.1246_*1del;Ser416GlyfsTer?])
c.1276_*1del (n.[c.1276_*1del;Ser426GlyfsTer?])
n.957_969del
c.*494_*506del (n.*494_*506del)
c.*617_*629del (n.*617_*629del)
c.1162_*1del (n.[c.1162_*1del;Ser388GlyfsTer?])
c.319_*1del (n.[c.319_*1del;Ser107GlyfsTer?])
n.601_613del
c.1069_*1del (n.[c.1069_*1del;Ser357GlyfsTer?])
c.1297_*1del (n.[c.1297_*1del;Ser433GlyfsTer?])
c.1204_*1del (n.[c.1204_*1del;Ser402GlyfsTer?])
 ClinVar dbSNP
Xg.19359637_19359681dupCA2739268103PDHA1c.1178_*28dup (n.1178_*28dup)
c.*849_*893dup (n.*849_*893dup)
c.1241_*28dup (n.1241_*28dup)
c.1271_*28dup (n.1271_*28dup)
n.952_996dup
c.*489_*533dup (n.*489_*533dup)
c.*612_*656dup (n.*612_*656dup)
c.1157_*28dup (n.1157_*28dup)
c.314_*28dup (n.314_*28dup)
n.596_640dup
c.1064_*28dup (n.1064_*28dup)
c.1292_*28dup (n.1292_*28dup)
c.1199_*28dup (n.1199_*28dup)
 ClinVar
Xg.19359638T>ACA412397339PDHA1c.1179T>A (p.Phe393Leu)
c.*850T>A (n.*850T>A)
c.1242T>A (p.Phe414Leu)
c.1272T>A (p.Phe424Leu)
n.953T>A
c.*490T>A (n.*490T>A)
c.*613T>A (n.*613T>A)
c.1158T>A (p.Phe386Leu)
c.315T>A (p.Phe105Leu)
n.597T>A
c.1065T>A (p.Phe355Leu)
c.1293T>A (p.Phe431Leu)
c.1200T>A (p.Phe400Leu)
Xg.19359638T>CCA515486488PDHA1c.1179T>C (p.Phe393=)
c.*850T>C (n.*850T>C)
c.1242T>C (p.Phe414=)
c.1272T>C (p.Phe424=)
n.953T>C
c.*490T>C (n.*490T>C)
c.*613T>C (n.*613T>C)
c.1158T>C (p.Phe386=)
c.315T>C (p.Phe105=)
n.597T>C
c.1065T>C (p.Phe355=)
c.1293T>C (p.Phe431=)
c.1200T>C (p.Phe400=)
Xg.19359638T>GCA412397342PDHA1c.1179T>G (p.Phe393Leu)
c.*850T>G (n.*850T>G)
c.1242T>G (p.Phe414Leu)
c.1272T>G (p.Phe424Leu)
n.953T>G
c.*490T>G (n.*490T>G)
c.*613T>G (n.*613T>G)
c.1158T>G (p.Phe386Leu)
c.315T>G (p.Phe105Leu)
n.597T>G
c.1065T>G (p.Phe355Leu)
c.1293T>G (p.Phe431Leu)
c.1200T>G (p.Phe400Leu)
Xg.19359638T=CA2418225620PDHA1c.1179T= (p.Phe393=)
c.*850T= (n.*850T=)
c.1242T= (p.Phe414=)
c.1272T= (p.Phe424=)
n.953T=
c.*490T= (n.*490T=)
c.*613T= (n.*613T=)
c.1158T= (p.Phe386=)
c.315T= (p.Phe105=)
n.597T=
c.1065T= (p.Phe355=)
c.1293T= (p.Phe431=)
c.1200T= (p.Phe400=)
Xg.19359638_19359640delinsTAACA2418225619PDHA1c.1179_1181delinsTAA (p.Phe393=)
c.*850_*852delinsTAA (n.*850_*852delinsTAA)
c.1242_1244delinsTAA (p.Phe414=)
c.1272_1274delinsTAA (p.Phe424=)
n.953_955delinsTAA
c.*490_*492delinsTAA (n.*490_*492delinsTAA)
c.*613_*615delinsTAA (n.*613_*615delinsTAA)
c.1158_1160delinsTAA (p.Phe386=)
c.315_317delinsTAA (p.Phe105=)
n.597_599delinsTAA
c.1065_1067delinsTAA (p.Phe355=)
c.1293_1295delinsTAA (p.Phe431=)
c.1200_1202delinsTAA (p.Phe400=)
Xg.19359639_19359642dupCA319929PDHA1c.1180_1183dup (p.Ser395Ter)
c.*851_*854dup (n.*851_*854dup)
c.1243_1246dup (p.Ser416Ter)
c.1273_1276dup (p.Ser426Ter)
n.954_957dup
c.*491_*494dup (n.*491_*494dup)
c.*614_*617dup (n.*614_*617dup)
c.1159_1162dup (p.Ser388Ter)
c.316_319dup (p.Ser107Ter)
n.598_601dup
c.1066_1069dup (p.Ser357Ter)
c.1294_1297dup (p.Ser433Ter)
c.1201_1204dup (p.Ser402Ter)
 ClinVar dbSNP
Xg.19359638_19359639insCAGTGGATCAAGTTTACA2580100442PDHA1c.1179_1180insCAGTGGATCAAGTTTA (p.Lys394GlnfsTer?)
c.*850_*851insCAGTGGATCAAGTTTA (n.*850_*851insCAGTGGATCAAGTTTA)
c.1242_1243insCAGTGGATCAAGTTTA (p.Lys415GlnfsTer?)
c.1272_1273insCAGTGGATCAAGTTTA (p.Lys425GlnfsTer?)
n.953_954insCAGTGGATCAAGTTTA
c.*490_*491insCAGTGGATCAAGTTTA (n.*490_*491insCAGTGGATCAAGTTTA)
c.*613_*614insCAGTGGATCAAGTTTA (n.*613_*614insCAGTGGATCAAGTTTA)
c.1158_1159insCAGTGGATCAAGTTTA (p.Lys387GlnfsTer?)
c.315_316insCAGTGGATCAAGTTTA (p.Lys106GlnfsTer?)
n.597_598insCAGTGGATCAAGTTTA
c.1065_1066insCAGTGGATCAAGTTTA (p.Lys356GlnfsTer?)
c.1293_1294insCAGTGGATCAAGTTTA (p.Lys432GlnfsTer?)
c.1200_1201insCAGTGGATCAAGTTTA (p.Lys401GlnfsTer?)
 ClinVar
Xg.19359639A=CA2418225622PDHA1c.1180A= (p.Lys394=)
c.*851A= (n.*851A=)
c.1243A= (p.Lys415=)
c.1273A= (p.Lys425=)
n.954A=
c.*491A= (n.*491A=)
c.*614A= (n.*614A=)
c.1159A= (p.Lys387=)
c.316A= (p.Lys106=)
n.598A=
c.1066A= (p.Lys356=)
c.1294A= (p.Lys432=)
c.1201A= (p.Lys401=)
Xg.19359639A>CCA325044PDHA1c.1180A>C (p.Lys394Gln)
c.*851A>C (n.*851A>C)
c.1243A>C (p.Lys415Gln)
c.1273A>C (p.Lys425Gln)
n.954A>C
c.*491A>C (n.*491A>C)
c.*614A>C (n.*614A>C)
c.1159A>C (p.Lys387Gln)
c.316A>C (p.Lys106Gln)
n.598A>C
c.1066A>C (p.Lys356Gln)
c.1294A>C (p.Lys432Gln)
c.1201A>C (p.Lys401Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359639A>GCA412397373PDHA1c.1180A>G (p.Lys394Glu)
c.*851A>G (n.*851A>G)
c.1243A>G (p.Lys415Glu)
c.1273A>G (p.Lys425Glu)
n.954A>G
c.*491A>G (n.*491A>G)
c.*614A>G (n.*614A>G)
c.1159A>G (p.Lys387Glu)
c.316A>G (p.Lys106Glu)
n.598A>G
c.1066A>G (p.Lys356Glu)
c.1294A>G (p.Lys432Glu)
c.1201A>G (p.Lys401Glu)
Xg.19359639A>TCA412397353PDHA1c.1180A>T (p.Lys394Ter)
c.*851A>T (n.*851A>T)
c.1243A>T (p.Lys415Ter)
c.1273A>T (p.Lys425Ter)
n.954A>T
c.*491A>T (n.*491A>T)
c.*614A>T (n.*614A>T)
c.1159A>T (p.Lys387Ter)
c.316A>T (p.Lys106Ter)
n.598A>T
c.1066A>T (p.Lys356Ter)
c.1294A>T (p.Lys432Ter)
c.1201A>T (p.Lys401Ter)
Xg.19359639_19359640delCA121209PDHA1c.1180_1181del (p.Lys394ValfsTer?)
c.*851_*852del (n.*851_*852del)
c.1243_1244del (p.Lys415ValfsTer?)
c.1273_1274del (p.Lys425ValfsTer?)
n.954_955del
c.*491_*492del (n.*491_*492del)
c.*614_*615del (n.*614_*615del)
c.1159_1160del (p.Lys387ValfsTer?)
c.316_317del (p.Lys106ValfsTer?)
n.598_599del
c.1066_1067del (p.Lys356ValfsTer?)
c.1294_1295del (p.Lys432ValfsTer?)
c.1201_1202del (p.Lys401ValfsTer?)
 ClinVar dbSNP
Xg.19359639_19359643delinsAAGTCCA2418225623PDHA1c.1180_1184delinsAAGTC (p.Lys394=)
c.*851_*855delinsAAGTC (n.*851_*855delinsAAGTC)
c.1243_1247delinsAAGTC (p.Lys415=)
c.1273_1277delinsAAGTC (p.Lys425=)
n.954_958delinsAAGTC
c.*491_*495delinsAAGTC (n.*491_*495delinsAAGTC)
c.*614_*618delinsAAGTC (n.*614_*618delinsAAGTC)
c.1159_1163delinsAAGTC (p.Lys387=)
c.316_320delinsAAGTC (p.Lys106=)
n.598_602delinsAAGTC
c.1066_1070delinsAAGTC (p.Lys356=)
c.1294_1298delinsAAGTC (p.Lys432=)
c.1201_1205delinsAAGTC (p.Lys401=)
Xg.19359639_19359644dupCA2418225621PDHA1c.1180_1185dup (p.Ser395_Val396insLysSer)
c.*851_*856dup (n.*851_*856dup)
c.1243_1248dup (p.Ser416_Val417insLysSer)
c.1273_1278dup (p.Ser426_Val427insLysSer)
n.954_959dup
c.*491_*496dup (n.*491_*496dup)
c.*614_*619dup (n.*614_*619dup)
c.1159_1164dup (p.Ser388_Val389insLysSer)
c.316_321dup (p.Ser107_Val108insLysSer)
n.598_603dup
c.1066_1071dup (p.Ser357_Val358insLysSer)
c.1294_1299dup (p.Ser433_Val434insLysSer)
c.1201_1206dup (p.Ser402_Val403insLysSer)
 ClinVar dbSNP
Xg.19359640_19359658dupCA2693251342PDHA1c.1181_*5dup (n.1181_*5dup)
c.*852_*870dup (n.*852_*870dup)
c.1244_*5dup (n.1244_*5dup)
c.1274_*5dup (n.1274_*5dup)
n.955_973dup
c.*492_*510dup (n.*492_*510dup)
c.*615_*633dup (n.*615_*633dup)
c.1160_*5dup (n.1160_*5dup)
c.317_*5dup (n.317_*5dup)
n.599_617dup
c.1067_*5dup (n.1067_*5dup)
c.1295_*5dup (n.1295_*5dup)
c.1202_*5dup (n.1202_*5dup)
 gnomAD v4
Xg.19359640A>CCA412397407PDHA1c.1181A>C (p.Lys394Thr)
c.*852A>C (n.*852A>C)
c.1244A>C (p.Lys415Thr)
c.1274A>C (p.Lys425Thr)
n.955A>C
c.*492A>C (n.*492A>C)
c.*615A>C (n.*615A>C)
c.1160A>C (p.Lys387Thr)
c.317A>C (p.Lys106Thr)
n.599A>C
c.1067A>C (p.Lys356Thr)
c.1295A>C (p.Lys432Thr)
c.1202A>C (p.Lys401Thr)
Xg.19359640A>GCA412397411PDHA1c.1181A>G (p.Lys394Arg)
c.*852A>G (n.*852A>G)
c.1244A>G (p.Lys415Arg)
c.1274A>G (p.Lys425Arg)
n.955A>G
c.*492A>G (n.*492A>G)
c.*615A>G (n.*615A>G)
c.1160A>G (p.Lys387Arg)
c.317A>G (p.Lys106Arg)
n.599A>G
c.1067A>G (p.Lys356Arg)
c.1295A>G (p.Lys432Arg)
c.1202A>G (p.Lys401Arg)
Xg.19359640A>TCA412397416PDHA1c.1181A>T (p.Lys394Met)
c.*852A>T (n.*852A>T)
c.1244A>T (p.Lys415Met)
c.1274A>T (p.Lys425Met)
n.955A>T
c.*492A>T (n.*492A>T)
c.*615A>T (n.*615A>T)
c.1160A>T (p.Lys387Met)
c.317A>T (p.Lys106Met)
n.599A>T
c.1067A>T (p.Lys356Met)
c.1295A>T (p.Lys432Met)
c.1202A>T (p.Lys401Met)
Xg.19359647_19359650delCA121203PDHA1c.1188_1191del (p.Ser397LysfsTer?)
c.*859_*862del (n.*859_*862del)
c.1251_1254del (p.Ser418LysfsTer?)
c.1281_1284del (p.Ser428LysfsTer?)
n.962_965del
c.*499_*502del (n.*499_*502del)
c.*622_*625del (n.*622_*625del)
c.1167_1170del (p.Ser390LysfsTer?)
c.324_327del (p.Ser109LysfsTer?)
n.606_609del
c.1074_1077del (p.Ser359LysfsTer?)
c.1302_1305del (p.Ser435LysfsTer?)
c.1209_1212del (p.Ser404LysfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19359641G>ACA515486489PDHA1c.1182G>A (p.Lys394=)
c.*853G>A (n.*853G>A)
c.1245G>A (p.Lys415=)
c.1275G>A (p.Lys425=)
n.956G>A
c.*493G>A (n.*493G>A)
c.*616G>A (n.*616G>A)
c.1161G>A (p.Lys387=)
c.318G>A (p.Lys106=)
n.600G>A
c.1068G>A (p.Lys356=)
c.1296G>A (p.Lys432=)
c.1203G>A (p.Lys401=)
Xg.19359641G>CCA412397428PDHA1c.1182G>C (p.Lys394Asn)
c.*853G>C (n.*853G>C)
c.1245G>C (p.Lys415Asn)
c.1275G>C (p.Lys425Asn)
n.956G>C
c.*493G>C (n.*493G>C)
c.*616G>C (n.*616G>C)
c.1161G>C (p.Lys387Asn)
c.318G>C (p.Lys106Asn)
n.600G>C
c.1068G>C (p.Lys356Asn)
c.1296G>C (p.Lys432Asn)
c.1203G>C (p.Lys401Asn)
Xg.19359641G>TCA412397433PDHA1c.1182G>T (p.Lys394Asn)
c.*853G>T (n.*853G>T)
c.1245G>T (p.Lys415Asn)
c.1275G>T (p.Lys425Asn)
n.956G>T
c.*493G>T (n.*493G>T)
c.*616G>T (n.*616G>T)
c.1161G>T (p.Lys387Asn)
c.318G>T (p.Lys106Asn)
n.600G>T
c.1068G>T (p.Lys356Asn)
c.1296G>T (p.Lys432Asn)
c.1203G>T (p.Lys401Asn)
Xg.19359642T>ACA412397437PDHA1c.1183T>A (p.Ser395Thr)
c.*854T>A (n.*854T>A)
c.1246T>A (p.Ser416Thr)
c.1276T>A (p.Ser426Thr)
n.957T>A
c.*494T>A (n.*494T>A)
c.*617T>A (n.*617T>A)
c.1162T>A (p.Ser388Thr)
c.319T>A (p.Ser107Thr)
n.601T>A
c.1069T>A (p.Ser357Thr)
c.1297T>A (p.Ser433Thr)
c.1204T>A (p.Ser402Thr)
Xg.19359642T>CCA412397439PDHA1c.1183T>C (p.Ser395Pro)
c.*854T>C (n.*854T>C)
c.1246T>C (p.Ser416Pro)
c.1276T>C (p.Ser426Pro)
n.957T>C
c.*494T>C (n.*494T>C)
c.*617T>C (n.*617T>C)
c.1162T>C (p.Ser388Pro)
c.319T>C (p.Ser107Pro)
n.601T>C
c.1069T>C (p.Ser357Pro)
c.1297T>C (p.Ser433Pro)
c.1204T>C (p.Ser402Pro)
Xg.19359642T>GCA412397442PDHA1c.1183T>G (p.Ser395Ala)
c.*854T>G (n.*854T>G)
c.1246T>G (p.Ser416Ala)
c.1276T>G (p.Ser426Ala)
n.957T>G
c.*494T>G (n.*494T>G)
c.*617T>G (n.*617T>G)
c.1162T>G (p.Ser388Ala)
c.319T>G (p.Ser107Ala)
n.601T>G
c.1069T>G (p.Ser357Ala)
c.1297T>G (p.Ser433Ala)
c.1204T>G (p.Ser402Ala)
Xg.19359643C>ACA412397449PDHA1c.1184C>A (p.Ser395Ter)
c.*855C>A (n.*855C>A)
c.1247C>A (p.Ser416Ter)
c.1277C>A (p.Ser426Ter)
n.958C>A
c.*495C>A (n.*495C>A)
c.*618C>A (n.*618C>A)
c.1163C>A (p.Ser388Ter)
c.320C>A (p.Ser107Ter)
n.602C>A
c.1070C>A (p.Ser357Ter)
c.1298C>A (p.Ser433Ter)
c.1205C>A (p.Ser402Ter)
Xg.19359643C>GCA412397453PDHA1c.1184C>G (p.Ser395Ter)
c.*855C>G (n.*855C>G)
c.1247C>G (p.Ser416Ter)
c.1277C>G (p.Ser426Ter)
n.958C>G
c.*495C>G (n.*495C>G)
c.*618C>G (n.*618C>G)
c.1163C>G (p.Ser388Ter)
c.320C>G (p.Ser107Ter)
n.602C>G
c.1070C>G (p.Ser357Ter)
c.1298C>G (p.Ser433Ter)
c.1205C>G (p.Ser402Ter)
Xg.19359643C>TCA412397457PDHA1c.1184C>T (p.Ser395Leu)
c.*855C>T (n.*855C>T)
c.1247C>T (p.Ser416Leu)
c.1277C>T (p.Ser426Leu)
n.958C>T
c.*495C>T (n.*495C>T)
c.*618C>T (n.*618C>T)
c.1163C>T (p.Ser388Leu)
c.320C>T (p.Ser107Leu)
n.602C>T
c.1070C>T (p.Ser357Leu)
c.1298C>T (p.Ser433Leu)
c.1205C>T (p.Ser402Leu)
Xg.19359643_19359652delinsCAGTCAGTTACA2418225624PDHA1c.1184_1193delinsCAGTCAGTTA (p.Ser395=)
c.*855_*864delinsCAGTCAGTTA (n.*855_*864delinsCAGTCAGTTA)
c.1247_1256delinsCAGTCAGTTA (p.Ser416=)
c.1277_1286delinsCAGTCAGTTA (p.Ser426=)
n.958_967delinsCAGTCAGTTA
c.*495_*504delinsCAGTCAGTTA (n.*495_*504delinsCAGTCAGTTA)
c.*618_*627delinsCAGTCAGTTA (n.*618_*627delinsCAGTCAGTTA)
c.1163_1172delinsCAGTCAGTTA (p.Ser388=)
c.320_329delinsCAGTCAGTTA (p.Ser107=)
n.602_611delinsCAGTCAGTTA
c.1070_1079delinsCAGTCAGTTA (p.Ser357=)
c.1298_1307delinsCAGTCAGTTA (p.Ser433=)
c.1205_1214delinsCAGTCAGTTA (p.Ser402=)
Xg.19359644A=CA2418225625PDHA1c.1185A= (p.Ser395=)
c.*856A= (n.*856A=)
c.1248A= (p.Ser416=)
c.1278A= (p.Ser426=)
n.959A=
c.*496A= (n.*496A=)
c.*619A= (n.*619A=)
c.1164A= (p.Ser388=)
c.321A= (p.Ser107=)
n.603A=
c.1071A= (p.Ser357=)
c.1299A= (p.Ser433=)
c.1206A= (p.Ser402=)
Xg.19359644A>CCA515486490PDHA1c.1185A>C (p.Ser395=)
c.*856A>C (n.*856A>C)
c.1248A>C (p.Ser416=)
c.1278A>C (p.Ser426=)
n.959A>C
c.*496A>C (n.*496A>C)
c.*619A>C (n.*619A>C)
c.1164A>C (p.Ser388=)
c.321A>C (p.Ser107=)
n.603A>C
c.1071A>C (p.Ser357=)
c.1299A>C (p.Ser433=)
c.1206A>C (p.Ser402=)
 dbSNP
Xg.19359644A>GCA515486491PDHA1c.1185A>G (p.Ser395=)
c.*856A>G (n.*856A>G)
c.1248A>G (p.Ser416=)
c.1278A>G (p.Ser426=)
n.959A>G
c.*496A>G (n.*496A>G)
c.*619A>G (n.*619A>G)
c.1164A>G (p.Ser388=)
c.321A>G (p.Ser107=)
n.603A>G
c.1071A>G (p.Ser357=)
c.1299A>G (p.Ser433=)
c.1206A>G (p.Ser402=)
Xg.19359644A>TCA515486492PDHA1c.1185A>T (p.Ser395=)
c.*856A>T (n.*856A>T)
c.1248A>T (p.Ser416=)
c.1278A>T (p.Ser426=)
n.959A>T
c.*496A>T (n.*496A>T)
c.*619A>T (n.*619A>T)
c.1164A>T (p.Ser388=)
c.321A>T (p.Ser107=)
n.603A>T
c.1071A>T (p.Ser357=)
c.1299A>T (p.Ser433=)
c.1206A>T (p.Ser402=)
Xg.19359646_19359654delCA640857098PDHA1c.1187_*1del (n.[c.1187_*1del;Val396GlyfsTer21])
c.*858_*866del (n.*858_*866del)
c.1250_*1del (n.[c.1250_*1del;Val417GlyfsTer21])
c.1280_*1del (n.[c.1280_*1del;Val427GlyfsTer21])
n.961_969del
c.*498_*506del (n.*498_*506del)
c.*621_*629del (n.*621_*629del)
c.1166_*1del (n.[c.1166_*1del;Val389GlyfsTer21])
c.323_*1del (n.[c.323_*1del;Val108GlyfsTer21])
n.605_613del
c.1073_*1del (n.[c.1073_*1del;Val358GlyfsTer21])
c.1301_*1del (n.[c.1301_*1del;Val434GlyfsTer21])
c.1208_*1del (n.[c.1208_*1del;Val403GlyfsTer21])
 dbSNP gnomAD v2 gnomAD v4
Xg.19359645G>ACA412397462PDHA1c.1186G>A (p.Val396Ile)
c.*857G>A (n.*857G>A)
c.1249G>A (p.Val417Ile)
c.1279G>A (p.Val427Ile)
n.960G>A
c.*497G>A (n.*497G>A)
c.*620G>A (n.*620G>A)
c.1165G>A (p.Val389Ile)
c.322G>A (p.Val108Ile)
n.604G>A
c.1072G>A (p.Val358Ile)
c.1300G>A (p.Val434Ile)
c.1207G>A (p.Val403Ile)
Xg.19359645G>CCA10363222PDHA1c.1186G>C (p.Val396Leu)
c.*857G>C (n.*857G>C)
c.1249G>C (p.Val417Leu)
c.1279G>C (p.Val427Leu)
n.960G>C
c.*497G>C (n.*497G>C)
c.*620G>C (n.*620G>C)
c.1165G>C (p.Val389Leu)
c.322G>C (p.Val108Leu)
n.604G>C
c.1072G>C (p.Val358Leu)
c.1300G>C (p.Val434Leu)
c.1207G>C (p.Val403Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19359645G=CA2418225626PDHA1c.1186G= (p.Val396=)
c.*857G= (n.*857G=)
c.1249G= (p.Val417=)
c.1279G= (p.Val427=)
n.960G=
c.*497G= (n.*497G=)
c.*620G= (n.*620G=)
c.1165G= (p.Val389=)
c.322G= (p.Val108=)
n.604G=
c.1072G= (p.Val358=)
c.1300G= (p.Val434=)
c.1207G= (p.Val403=)
Xg.19359645G>TCA412397468PDHA1c.1186G>T (p.Val396Phe)
c.*857G>T (n.*857G>T)
c.1249G>T (p.Val417Phe)
c.1279G>T (p.Val427Phe)
n.960G>T
c.*497G>T (n.*497G>T)
c.*620G>T (n.*620G>T)
c.1165G>T (p.Val389Phe)
c.322G>T (p.Val108Phe)
n.604G>T
c.1072G>T (p.Val358Phe)
c.1300G>T (p.Val434Phe)
c.1207G>T (p.Val403Phe)
Xg.19359645_19359647dupCA2579566473PDHA1c.1186_1188dup (p.Val396_Ser397insVal)
c.*857_*859dup (n.*857_*859dup)
c.1249_1251dup (p.Val417_Ser418insVal)
c.1279_1281dup (p.Val427_Ser428insVal)
n.960_962dup
c.*497_*499dup (n.*497_*499dup)
c.*620_*622dup (n.*620_*622dup)
c.1165_1167dup (p.Val389_Ser390insVal)
c.322_324dup (p.Val108_Ser109insVal)
n.604_606dup
c.1072_1074dup (p.Val358_Ser359insVal)
c.1300_1302dup (p.Val434_Ser435insVal)
c.1207_1209dup (p.Val403_Ser404insVal)
Xg.19359646T>ACA412397474PDHA1c.1187T>A (p.Val396Asp)
c.*858T>A (n.*858T>A)
c.1250T>A (p.Val417Asp)
c.1280T>A (p.Val427Asp)
n.961T>A
c.*498T>A (n.*498T>A)
c.*621T>A (n.*621T>A)
c.1166T>A (p.Val389Asp)
c.323T>A (p.Val108Asp)
n.605T>A
c.1073T>A (p.Val358Asp)
c.1301T>A (p.Val434Asp)
c.1208T>A (p.Val403Asp)
Xg.19359646T>CCA412397477PDHA1c.1187T>C (p.Val396Ala)
c.*858T>C (n.*858T>C)
c.1250T>C (p.Val417Ala)
c.1280T>C (p.Val427Ala)
n.961T>C
c.*498T>C (n.*498T>C)
c.*621T>C (n.*621T>C)
c.1166T>C (p.Val389Ala)
c.323T>C (p.Val108Ala)
n.605T>C
c.1073T>C (p.Val358Ala)
c.1301T>C (p.Val434Ala)
c.1208T>C (p.Val403Ala)
 ClinVar
Xg.19359646T>GCA412397480PDHA1c.1187T>G (p.Val396Gly)
c.*858T>G (n.*858T>G)
c.1250T>G (p.Val417Gly)
c.1280T>G (p.Val427Gly)
n.961T>G
c.*498T>G (n.*498T>G)
c.*621T>G (n.*621T>G)
c.1166T>G (p.Val389Gly)
c.323T>G (p.Val108Gly)
n.605T>G
c.1073T>G (p.Val358Gly)
c.1301T>G (p.Val434Gly)
c.1208T>G (p.Val403Gly)
Xg.19359647C>ACA515486493PDHA1c.1188C>A (p.Val396=)
c.*859C>A (n.*859C>A)
c.1251C>A (p.Val417=)
c.1281C>A (p.Val427=)
n.962C>A
c.*499C>A (n.*499C>A)
c.*622C>A (n.*622C>A)
c.1167C>A (p.Val389=)
c.324C>A (p.Val108=)
n.606C>A
c.1074C>A (p.Val358=)
c.1302C>A (p.Val434=)
c.1209C>A (p.Val403=)
Xg.19359647C>GCA515486494PDHA1c.1188C>G (p.Val396=)
c.*859C>G (n.*859C>G)
c.1251C>G (p.Val417=)
c.1281C>G (p.Val427=)
n.962C>G
c.*499C>G (n.*499C>G)
c.*622C>G (n.*622C>G)
c.1167C>G (p.Val389=)
c.324C>G (p.Val108=)
n.606C>G
c.1074C>G (p.Val358=)
c.1302C>G (p.Val434=)
c.1209C>G (p.Val403=)
Xg.19359647C>TCA515486495PDHA1c.1188C>T (p.Val396=)
c.*859C>T (n.*859C>T)
c.1251C>T (p.Val417=)
c.1281C>T (p.Val427=)
n.962C>T
c.*499C>T (n.*499C>T)
c.*622C>T (n.*622C>T)
c.1167C>T (p.Val389=)
c.324C>T (p.Val108=)
n.606C>T
c.1074C>T (p.Val358=)
c.1302C>T (p.Val434=)
c.1209C>T (p.Val403=)
 gnomAD v4
Xg.19359648A>CCA412397486PDHA1c.1189A>C (p.Ser397Arg)
c.*860A>C (n.*860A>C)
c.1252A>C (p.Ser418Arg)
c.1282A>C (p.Ser428Arg)
n.963A>C
c.*500A>C (n.*500A>C)
c.*623A>C (n.*623A>C)
c.1168A>C (p.Ser390Arg)
c.325A>C (p.Ser109Arg)
n.607A>C
c.1075A>C (p.Ser359Arg)
c.1303A>C (p.Ser435Arg)
c.1210A>C (p.Ser404Arg)
Xg.19359648A>GCA412397489PDHA1c.1189A>G (p.Ser397Gly)
c.*860A>G (n.*860A>G)
c.1252A>G (p.Ser418Gly)
c.1282A>G (p.Ser428Gly)
n.963A>G
c.*500A>G (n.*500A>G)
c.*623A>G (n.*623A>G)
c.1168A>G (p.Ser390Gly)
c.325A>G (p.Ser109Gly)
n.607A>G
c.1075A>G (p.Ser359Gly)
c.1303A>G (p.Ser435Gly)
c.1210A>G (p.Ser404Gly)
Xg.19359648A>TCA412397493PDHA1c.1189A>T (p.Ser397Cys)
c.*860A>T (n.*860A>T)
c.1252A>T (p.Ser418Cys)
c.1282A>T (p.Ser428Cys)
n.963A>T
c.*500A>T (n.*500A>T)
c.*623A>T (n.*623A>T)
c.1168A>T (p.Ser390Cys)
c.325A>T (p.Ser109Cys)
n.607A>T
c.1075A>T (p.Ser359Cys)
c.1303A>T (p.Ser435Cys)
c.1210A>T (p.Ser404Cys)
Xg.19359649_19359652dupCA2739268104PDHA1c.1190_1193dup (p.Ter398=)
c.*861_*864dup (n.*861_*864dup)
c.1253_1256dup (p.Ter419=)
c.1283_1286dup (p.Ter429=)
n.964_967dup
c.*501_*504dup (n.*501_*504dup)
c.*624_*627dup (n.*624_*627dup)
c.1169_1172dup (p.Ter391=)
c.326_329dup (p.Ter110=)
n.608_611dup
c.1076_1079dup (p.Ter360=)
c.1304_1307dup (p.Ter436=)
c.1211_1214dup (p.Ter405=)
 ClinVar
Xg.19359649G>ACA412397504PDHA1c.1190G>A (p.Ser397Asn)
c.*861G>A (n.*861G>A)
c.1253G>A (p.Ser418Asn)
c.1283G>A (p.Ser428Asn)
n.964G>A
c.*501G>A (n.*501G>A)
c.*624G>A (n.*624G>A)
c.1169G>A (p.Ser390Asn)
c.326G>A (p.Ser109Asn)
n.608G>A
c.1076G>A (p.Ser359Asn)
c.1304G>A (p.Ser435Asn)
c.1211G>A (p.Ser404Asn)
 gnomAD v4
Xg.19359649G>CCA412397511PDHA1c.1190G>C (p.Ser397Thr)
c.*861G>C (n.*861G>C)
c.1253G>C (p.Ser418Thr)
c.1283G>C (p.Ser428Thr)
n.964G>C
c.*501G>C (n.*501G>C)
c.*624G>C (n.*624G>C)
c.1169G>C (p.Ser390Thr)
c.326G>C (p.Ser109Thr)
n.608G>C
c.1076G>C (p.Ser359Thr)
c.1304G>C (p.Ser435Thr)
c.1211G>C (p.Ser404Thr)
 gnomAD v4
Xg.19359649G>TCA412397514PDHA1c.1190G>T (p.Ser397Ile)
c.*861G>T (n.*861G>T)
c.1253G>T (p.Ser418Ile)
c.1283G>T (p.Ser428Ile)
n.964G>T
c.*501G>T (n.*501G>T)
c.*624G>T (n.*624G>T)
c.1169G>T (p.Ser390Ile)
c.326G>T (p.Ser109Ile)
n.608G>T
c.1076G>T (p.Ser359Ile)
c.1304G>T (p.Ser435Ile)
c.1211G>T (p.Ser404Ile)
Xg.19359650T>ACA412397519PDHA1c.1191T>A (p.Ser397Arg)
c.*862T>A (n.*862T>A)
c.1254T>A (p.Ser418Arg)
c.1284T>A (p.Ser428Arg)
n.965T>A
c.*502T>A (n.*502T>A)
c.*625T>A (n.*625T>A)
c.1170T>A (p.Ser390Arg)
c.327T>A (p.Ser109Arg)
n.609T>A
c.1077T>A (p.Ser359Arg)
c.1305T>A (p.Ser435Arg)
c.1212T>A (p.Ser404Arg)
Xg.19359650T>CCA10363223PDHA1c.1191T>C (p.Ser397=)
c.*862T>C (n.*862T>C)
c.1254T>C (p.Ser418=)
c.1284T>C (p.Ser428=)
n.965T>C
c.*502T>C (n.*502T>C)
c.*625T>C (n.*625T>C)
c.1170T>C (p.Ser390=)
c.327T>C (p.Ser109=)
n.609T>C
c.1077T>C (p.Ser359=)
c.1305T>C (p.Ser435=)
c.1212T>C (p.Ser404=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359650T>GCA412397523PDHA1c.1191T>G (p.Ser397Arg)
c.*862T>G (n.*862T>G)
c.1254T>G (p.Ser418Arg)
c.1284T>G (p.Ser428Arg)
n.965T>G
c.*502T>G (n.*502T>G)
c.*625T>G (n.*625T>G)
c.1170T>G (p.Ser390Arg)
c.327T>G (p.Ser109Arg)
n.609T>G
c.1077T>G (p.Ser359Arg)
c.1305T>G (p.Ser435Arg)
c.1212T>G (p.Ser404Arg)
Xg.19359650T=CA2418225627PDHA1c.1191T= (p.Ser397=)
c.*862T= (n.*862T=)
c.1254T= (p.Ser418=)
c.1284T= (p.Ser428=)
n.965T=
c.*502T= (n.*502T=)
c.*625T= (n.*625T=)
c.1170T= (p.Ser390=)
c.327T= (p.Ser109=)
n.609T=
c.1077T= (p.Ser359=)
c.1305T= (p.Ser435=)
c.1212T= (p.Ser404=)
Xg.19359650_19359651dupCA2695200156PDHA1c.1191_1192dup (p.Ter398PheextTer?)
c.*862_*863dup (n.*862_*863dup)
c.1254_1255dup (p.Ter419PheextTer?)
c.1284_1285dup (p.Ter429PheextTer?)
n.965_966dup
c.*502_*503dup (n.*502_*503dup)
c.*625_*626dup (n.*625_*626dup)
c.1170_1171dup (p.Ter391PheextTer?)
c.327_328dup (p.Ter110PheextTer?)
n.609_610dup
c.1077_1078dup (p.Ter360PheextTer?)
c.1305_1306dup (p.Ter436PheextTer?)
c.1212_1213dup (p.Ter405PheextTer?)
 ClinVar
Xg.19359651T>ACA412397527PDHA1c.1192T>A (p.Ter398Lys)
c.*863T>A (n.*863T>A)
c.1255T>A (p.Ter419Lys)
c.1285T>A (p.Ter429Lys)
n.966T>A
c.*503T>A (n.*503T>A)
c.*626T>A (n.*626T>A)
c.1171T>A (p.Ter391Lys)
c.328T>A (p.Ter110Lys)
n.610T>A
c.1078T>A (p.Ter360Lys)
c.1306T>A (p.Ter436Lys)
c.1213T>A (p.Ter405Lys)
Xg.19359651T>CCA412397524PDHA1c.1192T>C (p.Ter398Gln)
c.*863T>C (n.*863T>C)
c.1255T>C (p.Ter419Gln)
c.1285T>C (p.Ter429Gln)
n.966T>C
c.*503T>C (n.*503T>C)
c.*626T>C (n.*626T>C)
c.1171T>C (p.Ter391Gln)
c.328T>C (p.Ter110Gln)
n.610T>C
c.1078T>C (p.Ter360Gln)
c.1306T>C (p.Ter436Gln)
c.1213T>C (p.Ter405Gln)
Xg.19359651T>GCA412397525PDHA1c.1192T>G (p.Ter398Glu)
c.*863T>G (n.*863T>G)
c.1255T>G (p.Ter419Glu)
c.1285T>G (p.Ter429Glu)
n.966T>G
c.*503T>G (n.*503T>G)
c.*626T>G (n.*626T>G)
c.1171T>G (p.Ter391Glu)
c.328T>G (p.Ter110Glu)
n.610T>G
c.1078T>G (p.Ter360Glu)
c.1306T>G (p.Ter436Glu)
c.1213T>G (p.Ter405Glu)
Xg.19359651_19359656delinsTAAGGGCA2418225630PDHA1c.1192_*3delinsTAAGGG (n.[c.1192_*3delinsTAAGGG;Ter398=])
c.*863_*868delinsTAAGGG (n.*863_*868delinsTAAGGG)
c.1255_*3delinsTAAGGG (n.[c.1255_*3delinsTAAGGG;Ter419=])
c.1285_*3delinsTAAGGG (n.[c.1285_*3delinsTAAGGG;Ter429=])
n.966_971delinsTAAGGG
c.*503_*508delinsTAAGGG (n.*503_*508delinsTAAGGG)
c.*626_*631delinsTAAGGG (n.*626_*631delinsTAAGGG)
c.1171_*3delinsTAAGGG (n.[c.1171_*3delinsTAAGGG;Ter391=])
c.328_*3delinsTAAGGG (n.[c.328_*3delinsTAAGGG;Ter110=])
n.610_615delinsTAAGGG
c.1078_*3delinsTAAGGG (n.[c.1078_*3delinsTAAGGG;Ter360=])
c.1306_*3delinsTAAGGG (n.[c.1306_*3delinsTAAGGG;Ter436=])
c.1213_*3delinsTAAGGG (n.[c.1213_*3delinsTAAGGG;Ter405=])
Xg.19359651_19359657delinsTAAGGGGCA2418225628PDHA1c.1192_*4delinsTAAGGGG (n.[c.1192_*4delinsTAAGGGG;Ter398=])
c.*863_*869delinsTAAGGGG (n.*863_*869delinsTAAGGGG)
c.1255_*4delinsTAAGGGG (n.[c.1255_*4delinsTAAGGGG;Ter419=])
c.1285_*4delinsTAAGGGG (n.[c.1285_*4delinsTAAGGGG;Ter429=])
n.966_972delinsTAAGGGG
c.*503_*509delinsTAAGGGG (n.*503_*509delinsTAAGGGG)
c.*626_*632delinsTAAGGGG (n.*626_*632delinsTAAGGGG)
c.1171_*4delinsTAAGGGG (n.[c.1171_*4delinsTAAGGGG;Ter391=])
c.328_*4delinsTAAGGGG (n.[c.328_*4delinsTAAGGGG;Ter110=])
n.610_616delinsTAAGGGG
c.1078_*4delinsTAAGGGG (n.[c.1078_*4delinsTAAGGGG;Ter360=])
c.1306_*4delinsTAAGGGG (n.[c.1306_*4delinsTAAGGGG;Ter436=])
c.1213_*4delinsTAAGGGG (n.[c.1213_*4delinsTAAGGGG;Ter405=])
Xg.19359651_19359662delinsTAAGGGGAGGAGCA2418225629PDHA1c.1192_*9delinsTAAGGGGAGGAG (n.[c.1192_*9delinsTAAGGGGAGGAG;Ter398=])
c.*863_*874delinsTAAGGGGAGGAG (n.*863_*874delinsTAAGGGGAGGAG)
c.1255_*9delinsTAAGGGGAGGAG (n.[c.1255_*9delinsTAAGGGGAGGAG;Ter419=])
c.1285_*9delinsTAAGGGGAGGAG (n.[c.1285_*9delinsTAAGGGGAGGAG;Ter429=])
n.966_977delinsTAAGGGGAGGAG
c.*503_*514delinsTAAGGGGAGGAG (n.*503_*514delinsTAAGGGGAGGAG)
c.*626_*637delinsTAAGGGGAGGAG (n.*626_*637delinsTAAGGGGAGGAG)
c.1171_*9delinsTAAGGGGAGGAG (n.[c.1171_*9delinsTAAGGGGAGGAG;Ter391=])
c.328_*9delinsTAAGGGGAGGAG (n.[c.328_*9delinsTAAGGGGAGGAG;Ter110=])
n.610_621delinsTAAGGGGAGGAG
c.1078_*9delinsTAAGGGGAGGAG (n.[c.1078_*9delinsTAAGGGGAGGAG;Ter360=])
c.1306_*9delinsTAAGGGGAGGAG (n.[c.1306_*9delinsTAAGGGGAGGAG;Ter436=])
c.1213_*9delinsTAAGGGGAGGAG (n.[c.1213_*9delinsTAAGGGGAGGAG;Ter405=])
Xg.19359652A=CA2418225631PDHA1c.1193A= (p.Ter398=)
c.*864A= (n.*864A=)
c.1256A= (p.Ter419=)
c.1286A= (p.Ter429=)
n.967A=
c.*504A= (n.*504A=)
c.*627A= (n.*627A=)
c.1172A= (p.Ter391=)
c.329A= (p.Ter110=)
n.611A=
c.1079A= (p.Ter360=)
c.1307A= (p.Ter436=)
c.1214A= (p.Ter405=)
Xg.19359652A>CCA412397533PDHA1c.1193A>C (p.Ter398Ser)
c.*864A>C (n.*864A>C)
c.1256A>C (p.Ter419Ser)
c.1286A>C (p.Ter429Ser)
n.967A>C
c.*504A>C (n.*504A>C)
c.*627A>C (n.*627A>C)
c.1172A>C (p.Ter391Ser)
c.329A>C (p.Ter110Ser)
n.611A>C
c.1079A>C (p.Ter360Ser)
c.1307A>C (p.Ter436Ser)
c.1214A>C (p.Ter405Ser)
Xg.19359652A>GCA515486505PDHA1c.1193A>G (p.Ter398=)
c.*864A>G (n.*864A>G)
c.1256A>G (p.Ter419=)
c.1286A>G (p.Ter429=)
n.967A>G
c.*504A>G (n.*504A>G)
c.*627A>G (n.*627A>G)
c.1172A>G (p.Ter391=)
c.329A>G (p.Ter110=)
n.611A>G
c.1079A>G (p.Ter360=)
c.1307A>G (p.Ter436=)
c.1214A>G (p.Ter405=)
Xg.19359652A>TCA412397537PDHA1c.1193A>T (p.Ter398Leu)
c.*864A>T (n.*864A>T)
c.1256A>T (p.Ter419Leu)
c.1286A>T (p.Ter429Leu)
n.967A>T
c.*504A>T (n.*504A>T)
c.*627A>T (n.*627A>T)
c.1172A>T (p.Ter391Leu)
c.329A>T (p.Ter110Leu)
n.611A>T
c.1079A>T (p.Ter360Leu)
c.1307A>T (p.Ter436Leu)
c.1214A>T (p.Ter405Leu)
Xg.19359652_19359656delCA658799596PDHA1c.1193_*3del (n.[c.1193_*3del;Ter398=])
c.*864_*868del (n.*864_*868del)
c.1256_*3del (n.[c.1256_*3del;Ter419=])
c.1286_*3del (n.[c.1286_*3del;Ter429=])
n.967_971del
c.*504_*508del (n.*504_*508del)
c.*627_*631del (n.*627_*631del)
c.1172_*3del (n.[c.1172_*3del;Ter391=])
c.329_*3del (n.[c.329_*3del;Ter110=])
n.611_615del
c.1079_*3del (n.[c.1079_*3del;Ter360=])
c.1307_*3del (n.[c.1307_*3del;Ter436=])
c.1214_*3del (n.[c.1214_*3del;Ter405=])
 ClinVar dbSNP
Xg.19359652_19359656dupCA2693251343PDHA1c.1193_*3dup (n.1193_*3dup)
c.*864_*868dup (n.*864_*868dup)
c.1256_*3dup (n.1256_*3dup)
c.1286_*3dup (n.1286_*3dup)
n.967_971dup
c.*504_*508dup (n.*504_*508dup)
c.*627_*631dup (n.*627_*631dup)
c.1172_*3dup (n.1172_*3dup)
c.329_*3dup (n.329_*3dup)
n.611_615dup
c.1079_*3dup (n.1079_*3dup)
c.1307_*3dup (n.1307_*3dup)
c.1214_*3dup (n.1214_*3dup)
 gnomAD v4
Xg.19359653_19359658delCA10363224PDHA1c.1194_*5del (n.[c.1194_*5del;Ter398=])
c.*865_*870del (n.*865_*870del)
c.1257_*5del (n.[c.1257_*5del;Ter419=])
c.1287_*5del (n.[c.1287_*5del;Ter429=])
n.968_973del
c.*505_*510del (n.*505_*510del)
c.*628_*633del (n.*628_*633del)
c.1173_*5del (n.[c.1173_*5del;Ter391=])
c.330_*5del (n.[c.330_*5del;Ter110=])
n.612_617del
c.1080_*5del (n.[c.1080_*5del;Ter360=])
c.1308_*5del (n.[c.1308_*5del;Ter436=])
c.1215_*5del (n.[c.1215_*5del;Ter405=])
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359656_19359666delCA10363225PDHA1c.*3_*13del (n.*3_*13del)
c.*868_*878del (n.*868_*878del)
n.971_981del
c.*508_*518del (n.*508_*518del)
c.*631_*641del (n.*631_*641del)
n.615_625del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359653A>CCA412397552PDHA1c.1194A>C (p.Ter398Tyr)
c.*865A>C (n.*865A>C)
c.1257A>C (p.Ter419Tyr)
c.1287A>C (p.Ter429Tyr)
n.968A>C
c.*505A>C (n.*505A>C)
c.*628A>C (n.*628A>C)
c.1173A>C (p.Ter391Tyr)
c.330A>C (p.Ter110Tyr)
n.612A>C
c.1080A>C (p.Ter360Tyr)
c.1308A>C (p.Ter436Tyr)
c.1215A>C (p.Ter405Tyr)
Xg.19359653A>GCA515486506PDHA1c.1194A>G (p.Ter398=)
c.*865A>G (n.*865A>G)
c.1257A>G (p.Ter419=)
c.1287A>G (p.Ter429=)
n.968A>G
c.*505A>G (n.*505A>G)
c.*628A>G (n.*628A>G)
c.1173A>G (p.Ter391=)
c.330A>G (p.Ter110=)
n.612A>G
c.1080A>G (p.Ter360=)
c.1308A>G (p.Ter436=)
c.1215A>G (p.Ter405=)
Xg.19359653A>TCA412397556PDHA1c.1194A>T (p.Ter398Tyr)
c.*865A>T (n.*865A>T)
c.1257A>T (p.Ter419Tyr)
c.1287A>T (p.Ter429Tyr)
n.968A>T
c.*505A>T (n.*505A>T)
c.*628A>T (n.*628A>T)
c.1173A>T (p.Ter391Tyr)
c.330A>T (p.Ter110Tyr)
n.612A>T
c.1080A>T (p.Ter360Tyr)
c.1308A>T (p.Ter436Tyr)
c.1215A>T (p.Ter405Tyr)
Xg.19359653_19359683dupCA640857099PDHA1c.1194_*30dup (n.1194_*30dup)
c.*865_*895dup (n.*865_*895dup)
c.1257_*30dup (n.1257_*30dup)
c.1287_*30dup (n.1287_*30dup)
n.968_998dup
c.*505_*535dup (n.*505_*535dup)
c.*628_*658dup (n.*628_*658dup)
c.1173_*30dup (n.1173_*30dup)
c.330_*30dup (n.330_*30dup)
n.612_642dup
c.1080_*30dup (n.1080_*30dup)
c.1308_*30dup (n.1308_*30dup)
c.1215_*30dup (n.1215_*30dup)
 dbSNP gnomAD v2 gnomAD v4
Xg.19359654G>ACA2418225632PDHA1c.*1G>A (n.*1G>A)
c.*866G>A (n.*866G>A)
n.969G>A
c.*506G>A (n.*506G>A)
c.*629G>A (n.*629G>A)
n.613G>A
 dbSNP
Xg.19359654G>CCA1131434610PDHA1c.*1G>C (n.*1G>C)
c.*866G>C (n.*866G>C)
n.969G>C
c.*506G>C (n.*506G>C)
c.*629G>C (n.*629G>C)
n.613G>C
 dbSNP gnomAD v3 gnomAD v4
Xg.19359654G=CA2418225633PDHA1c.*1G= (n.*1G=)
c.*866G= (n.*866G=)
n.969G=
c.*506G= (n.*506G=)
c.*629G= (n.*629G=)
n.613G=
Xg.19359654G>TCA2740044066PDHA1c.*1G>T (n.*1G>T)
c.*866G>T (n.*866G>T)
n.969G>T
c.*506G>T (n.*506G>T)
c.*629G>T (n.*629G>T)
n.613G>T
Xg.19359655G>ACA2740044068PDHA1c.*2G>A (n.*2G>A)
c.*867G>A (n.*867G>A)
n.970G>A
c.*507G>A (n.*507G>A)
c.*630G>A (n.*630G>A)
n.614G>A
Xg.19359655G>CCA2740044069PDHA1c.*2G>C (n.*2G>C)
c.*867G>C (n.*867G>C)
n.970G>C
c.*507G>C (n.*507G>C)
c.*630G>C (n.*630G>C)
n.614G>C
Xg.19359655G>TCA2740044067PDHA1c.*2G>T (n.*2G>T)
c.*867G>T (n.*867G>T)
n.970G>T
c.*507G>T (n.*507G>T)
c.*630G>T (n.*630G>T)
n.614G>T
Xg.19359656G>ACA10363226PDHA1c.*3G>A (n.*3G>A)
c.*868G>A (n.*868G>A)
n.971G>A
c.*508G>A (n.*508G>A)
c.*631G>A (n.*631G>A)
n.615G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359656G>CCA873743002PDHA1c.*3G>C (n.*3G>C)
c.*868G>C (n.*868G>C)
n.971G>C
c.*508G>C (n.*508G>C)
c.*631G>C (n.*631G>C)
n.615G>C
 dbSNP gnomAD v3 gnomAD v4
Xg.19359656G=CA2418225634PDHA1c.*3G= (n.*3G=)
c.*868G= (n.*868G=)
n.971G=
c.*508G= (n.*508G=)
c.*631G= (n.*631G=)
n.615G=
Xg.19359656G>TCA2740044070PDHA1c.*3G>T (n.*3G>T)
c.*868G>T (n.*868G>T)
n.971G>T
c.*508G>T (n.*508G>T)
c.*631G>T (n.*631G>T)
n.615G>T
Xg.19359660_19359662dupCA2693251344PDHA1c.*7_*9dup (n.*7_*9dup)
c.*872_*874dup (n.*872_*874dup)
n.975_977dup
c.*512_*514dup (n.*512_*514dup)
c.*635_*637dup (n.*635_*637dup)
n.619_621dup
 gnomAD v4
Xg.19359658_19359684dupCA2693251345PDHA1c.*5_*31dup (n.*5_*31dup)
c.*870_*896dup (n.*870_*896dup)
n.973_999dup
c.*510_*536dup (n.*510_*536dup)
c.*633_*659dup (n.*633_*659dup)
n.617_643dup
 gnomAD v4
Xg.19359657G>ACA2693251346PDHA1c.*4G>A (n.*4G>A)
c.*869G>A (n.*869G>A)
n.972G>A
c.*509G>A (n.*509G>A)
c.*632G>A (n.*632G>A)
n.616G>A
 gnomAD v4
Xg.19359661_19359671delCA2579566474PDHA1c.*8_*18del (n.*8_*18del)
c.*873_*883del (n.*873_*883del)
n.976_986del
c.*513_*523del (n.*513_*523del)
c.*636_*646del (n.*636_*646del)
n.620_630del
Xg.19359658A>GCA2740044071PDHA1c.*5A>G (n.*5A>G)
c.*870A>G (n.*870A>G)
n.973A>G
c.*510A>G (n.*510A>G)
c.*633A>G (n.*633A>G)
n.617A>G
Xg.19359658A>TCA2740044072PDHA1c.*5A>T (n.*5A>T)
c.*870A>T (n.*870A>T)
n.973A>T
c.*510A>T (n.*510A>T)
c.*633A>T (n.*633A>T)
n.617A>T
Xg.19359664_19359669delCA2579566475PDHA1c.*11_*16del (n.*11_*16del)
c.*876_*881del (n.*876_*881del)
n.979_984del
c.*516_*521del (n.*516_*521del)
c.*639_*644del (n.*639_*644del)
n.623_628del
Xg.19359659G>ACA640857100PDHA1c.*6G>A (n.*6G>A)
c.*871G>A (n.*871G>A)
n.974G>A
c.*511G>A (n.*511G>A)
c.*634G>A (n.*634G>A)
n.618G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.19359659G>CCA2740044073PDHA1c.*6G>C (n.*6G>C)
c.*871G>C (n.*871G>C)
n.974G>C
c.*511G>C (n.*511G>C)
c.*634G>C (n.*634G>C)
n.618G>C
Xg.19359659G=CA2418225635PDHA1c.*6G= (n.*6G=)
c.*871G= (n.*871G=)
n.974G=
c.*511G= (n.*511G=)
c.*634G= (n.*634G=)
n.618G=
Xg.19359659G>TCA2693251347PDHA1c.*6G>T (n.*6G>T)
c.*871G>T (n.*871G>T)
n.974G>T
c.*511G>T (n.*511G>T)
c.*634G>T (n.*634G>T)
n.618G>T
 gnomAD v4
Xg.19359660G>ACA327031318PDHA1c.*7G>A (n.*7G>A)
c.*872G>A (n.*872G>A)
n.975G>A
c.*512G>A (n.*512G>A)
c.*635G>A (n.*635G>A)
n.619G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359660G>CCA2740044074PDHA1c.*7G>C (n.*7G>C)
c.*872G>C (n.*872G>C)
n.975G>C
c.*512G>C (n.*512G>C)
c.*635G>C (n.*635G>C)
n.619G>C
Xg.19359660G=CA2418225637PDHA1c.*7G= (n.*7G=)
c.*872G= (n.*872G=)
n.975G=
c.*512G= (n.*512G=)
c.*635G= (n.*635G=)
n.619G=
Xg.19359660G>TCA2740044075PDHA1c.*7G>T (n.*7G>T)
c.*872G>T (n.*872G>T)
n.975G>T
c.*512G>T (n.*512G>T)
c.*635G>T (n.*635G>T)
n.619G>T
Xg.19359660_19359663delinsGAGACA2418225636PDHA1c.*7_*10delinsGAGA (n.*7_*10delinsGAGA)
c.*872_*875delinsGAGA (n.*872_*875delinsGAGA)
n.975_978delinsGAGA
c.*512_*515delinsGAGA (n.*512_*515delinsGAGA)
c.*635_*638delinsGAGA (n.*635_*638delinsGAGA)
n.619_622delinsGAGA
Xg.19359661A>GCA2740044076PDHA1c.*8A>G (n.*8A>G)
c.*873A>G (n.*873A>G)
n.976A>G
c.*513A>G (n.*513A>G)
c.*636A>G (n.*636A>G)
n.620A>G
Xg.19359663_19359665delCA10363227PDHA1c.*10_*12del (n.*10_*12del)
c.*875_*877del (n.*875_*877del)
n.978_980del
c.*515_*517del (n.*515_*517del)
c.*638_*640del (n.*638_*640del)
n.622_624del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359662G>ACA2693251348PDHA1c.*9G>A (n.*9G>A)
c.*874G>A (n.*874G>A)
n.977G>A
c.*514G>A (n.*514G>A)
c.*637G>A (n.*637G>A)
n.621G>A
 gnomAD v4
Xg.19359662G>CCA2740044077PDHA1c.*9G>C (n.*9G>C)
c.*874G>C (n.*874G>C)
n.977G>C
c.*514G>C (n.*514G>C)
c.*637G>C (n.*637G>C)
n.621G>C
Xg.19359662G>TCA2740044078PDHA1c.*9G>T (n.*9G>T)
c.*874G>T (n.*874G>T)
n.977G>T
c.*514G>T (n.*514G>T)
c.*637G>T (n.*637G>T)
n.621G>T
Xg.19359663A=CA2418225638PDHA1c.*10A= (n.*10A=)
c.*875A= (n.*875A=)
n.978A=
c.*515A= (n.*515A=)
c.*638A= (n.*638A=)
n.622A=
Xg.19359663A>CCA2740044079PDHA1c.*10A>C (n.*10A>C)
c.*875A>C (n.*875A>C)
n.978A>C
c.*515A>C (n.*515A>C)
c.*638A>C (n.*638A>C)
n.622A>C
Xg.19359663A>GCA10363228PDHA1c.*10A>G (n.*10A>G)
c.*875A>G (n.*875A>G)
n.978A>G
c.*515A>G (n.*515A>G)
c.*638A>G (n.*638A>G)
n.622A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359663A>TCA2740044080PDHA1c.*10A>T (n.*10A>T)
c.*875A>T (n.*875A>T)
n.978A>T
c.*515A>T (n.*515A>T)
c.*638A>T (n.*638A>T)
n.622A>T
Xg.19359664A=CA2418225639PDHA1c.*11A= (n.*11A=)
c.*876A= (n.*876A=)
n.979A=
c.*516A= (n.*516A=)
c.*639A= (n.*639A=)
n.623A=
Xg.19359664A>GCA10363229PDHA1c.*11A>G (n.*11A>G)
c.*876A>G (n.*876A>G)
n.979A>G
c.*516A>G (n.*516A>G)
c.*639A>G (n.*639A>G)
n.623A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19359664A>TCA2740044081PDHA1c.*11A>T (n.*11A>T)
c.*876A>T (n.*876A>T)
n.979A>T
c.*516A>T (n.*516A>T)
c.*639A>T (n.*639A>T)
n.623A>T
Xg.19359665G>ACA10363230PDHA1c.*12G>A (n.*12G>A)
c.*877G>A (n.*877G>A)
n.980G>A
c.*517G>A (n.*517G>A)
c.*640G>A (n.*640G>A)
n.624G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19359665G>CCA2740044082PDHA1c.*12G>C (n.*12G>C)
c.*877G>C (n.*877G>C)
n.980G>C
c.*517G>C (n.*517G>C)
c.*640G>C (n.*640G>C)
n.624G>C
Xg.19359665G=CA2418225640PDHA1c.*12G= (n.*12G=)
c.*877G= (n.*877G=)
n.980G=
c.*517G= (n.*517G=)
c.*640G= (n.*640G=)
n.624G=
Xg.19359665G>TCA2740044083PDHA1c.*12G>T (n.*12G>T)
c.*877G>T (n.*877G>T)
n.980G>T
c.*517G>T (n.*517G>T)
c.*640G>T (n.*640G>T)
n.624G>T
Xg.19359667_19359687dupCA920400548PDHA1c.*14_*34dup (n.*14_*34dup)
c.*879_*899dup (n.*879_*899dup)
n.982_1002dup
c.*519_*539dup (n.*519_*539dup)
c.*642_*662dup (n.*642_*662dup)
n.626_646dup
 dbSNP gnomAD v4
Xg.19359665_19359666insACA2548654726PDHA1c.*12_*13insA (n.*12_*13insA)
c.*877_*878insA (n.*877_*878insA)
n.980_981insA
c.*517_*518insA (n.*517_*518insA)
c.*640_*641insA (n.*640_*641insA)
n.624_625insA
Xg.19359666G>ACA2693251350PDHA1c.*13G>A (n.*13G>A)
c.*878G>A (n.*878G>A)
n.981G>A
c.*518G>A (n.*518G>A)
c.*641G>A (n.*641G>A)
n.625G>A
 gnomAD v4
Xg.19359666G>CCA2740044084PDHA1c.*13G>C (n.*13G>C)
c.*878G>C (n.*878G>C)
n.981G>C
c.*518G>C (n.*518G>C)
c.*641G>C (n.*641G>C)
n.625G>C
Xg.19359666G>TCA657753559PDHA1c.*13G>T (n.*13G>T)
c.*878G>T (n.*878G>T)
n.981G>T
c.*518G>T (n.*518G>T)
c.*641G>T (n.*641G>T)
n.625G>T
 COSMIC
Xg.19359669_19359670delCA2693251349PDHA1c.*16_*17del (n.*16_*17del)
c.*881_*882del (n.*881_*882del)
n.984_985del
c.*521_*522del (n.*521_*522del)
c.*644_*645del (n.*644_*645del)
n.628_629del
 gnomAD v4
Xg.19359666_19359667insGAAGAAAACA2546670872PDHA1c.*13_*14insGAAGAAAA (n.*13_*14insGAAGAAAA)
c.*878_*879insGAAGAAAA (n.*878_*879insGAAGAAAA)
n.981_982insGAAGAAAA
c.*518_*519insGAAGAAAA (n.*518_*519insGAAGAAAA)
c.*641_*642insGAAGAAAA (n.*641_*642insGAAGAAAA)
n.625_626insGAAGAAAA
Xg.19359667A>GCA2740044085PDHA1c.*14A>G (n.*14A>G)
c.*879A>G (n.*879A>G)
n.982A>G
c.*519A>G (n.*519A>G)
c.*642A>G (n.*642A>G)
n.626A>G
Xg.19359667_19359682dupCA2693251351PDHA1c.*14_*29dup (n.*14_*29dup)
c.*879_*894dup (n.*879_*894dup)
n.982_997dup
c.*519_*534dup (n.*519_*534dup)
c.*642_*657dup (n.*642_*657dup)
n.626_641dup
 gnomAD v4
Xg.19359668G>ACA2740044086PDHA1c.*15G>A (n.*15G>A)
c.*880G>A (n.*880G>A)
n.983G>A
c.*520G>A (n.*520G>A)
c.*643G>A (n.*643G>A)
n.627G>A
Xg.19359668G>CCA10363231PDHA1c.*15G>C (n.*15G>C)
c.*880G>C (n.*880G>C)
n.983G>C
c.*520G>C (n.*520G>C)
c.*643G>C (n.*643G>C)
n.627G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359668G=CA2418225641PDHA1c.*15G= (n.*15G=)
c.*880G= (n.*880G=)
n.983G=
c.*520G= (n.*520G=)
c.*643G= (n.*643G=)
n.627G=
Xg.19359668G>TCA2740044087PDHA1c.*15G>T (n.*15G>T)
c.*880G>T (n.*880G>T)
n.983G>T
c.*520G>T (n.*520G>T)
c.*643G>T (n.*643G>T)
n.627G>T
Xg.19359669A=CA2418225642PDHA1c.*16A= (n.*16A=)
c.*881A= (n.*881A=)
n.984A=
c.*521A= (n.*521A=)
c.*644A= (n.*644A=)
n.628A=
Xg.19359669A>CCA10363232PDHA1c.*16A>C (n.*16A>C)
c.*881A>C (n.*881A>C)
n.984A>C
c.*521A>C (n.*521A>C)
c.*644A>C (n.*644A>C)
n.628A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359669A>TCA2740044088PDHA1c.*16A>T (n.*16A>T)
c.*881A>T (n.*881A>T)
n.984A>T
c.*521A>T (n.*521A>T)
c.*644A>T (n.*644A>T)
n.628A>T
Xg.19359669dupCA640857101PDHA1c.*16dup (n.*16dup)
c.*881dup (n.*881dup)
n.984dup
c.*521dup (n.*521dup)
c.*644dup (n.*644dup)
n.628dup
 dbSNP gnomAD v2 gnomAD v4
Xg.19359669_19359670insCGCA2693251352PDHA1c.*16_*17insCG (n.*16_*17insCG)
c.*881_*882insCG (n.*881_*882insCG)
n.984_985insCG
c.*521_*522insCG (n.*521_*522insCG)
c.*644_*645insCG (n.*644_*645insCG)
n.628_629insCG
 gnomAD v4
Xg.19359670G>ACA2579566476PDHA1c.*17G>A (n.*17G>A)
c.*882G>A (n.*882G>A)
n.985G>A
c.*522G>A (n.*522G>A)
c.*645G>A (n.*645G>A)
n.629G>A
 gnomAD v4
Xg.19359670G>CCA2693251353PDHA1c.*17G>C (n.*17G>C)
c.*882G>C (n.*882G>C)
n.985G>C
c.*522G>C (n.*522G>C)
c.*645G>C (n.*645G>C)
n.629G>C
 gnomAD v4
Xg.19359670G>TCA2740044089PDHA1c.*17G>T (n.*17G>T)
c.*882G>T (n.*882G>T)
n.985G>T
c.*522G>T (n.*522G>T)
c.*645G>T (n.*645G>T)
n.629G>T
Xg.19359670_19359675dupCA640857102PDHA1c.*17_*22dup (n.*17_*22dup)
c.*882_*887dup (n.*882_*887dup)
n.985_990dup
c.*522_*527dup (n.*522_*527dup)
c.*645_*650dup (n.*645_*650dup)
n.629_634dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359670_19359692dupCA2418225643PDHA1c.*17_*39dup (n.*17_*39dup)
c.*882_*904dup (n.*882_*904dup)
n.985_1007dup
c.*522_*544dup (n.*522_*544dup)
c.*645_*667dup (n.*645_*667dup)
n.629_651dup
 dbSNP gnomAD v3 gnomAD v4
Xg.19359671G>ACA640857103PDHA1c.*18G>A (n.*18G>A)
c.*883G>A (n.*883G>A)
n.986G>A
c.*523G>A (n.*523G>A)
c.*646G>A (n.*646G>A)
n.630G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359671G>CCA2693251354PDHA1c.*18G>C (n.*18G>C)
c.*883G>C (n.*883G>C)
n.986G>C
c.*523G>C (n.*523G>C)
c.*646G>C (n.*646G>C)
n.630G>C
 gnomAD v4
Xg.19359671G=CA2418225644PDHA1c.*18G= (n.*18G=)
c.*883G= (n.*883G=)
n.986G=
c.*523G= (n.*523G=)
c.*646G= (n.*646G=)
n.630G=
Xg.19359671G>TCA2740044090PDHA1c.*18G>T (n.*18G>T)
c.*883G>T (n.*883G>T)
n.986G>T
c.*523G>T (n.*523G>T)
c.*646G>T (n.*646G>T)
n.630G>T
Xg.19359672T>GCA327031373PDHA1c.*19T>G (n.*19T>G)
c.*884T>G (n.*884T>G)
n.987T>G
c.*524T>G (n.*524T>G)
c.*647T>G (n.*647T>G)
n.631T>G
 dbSNP gnomAD v4
Xg.19359672T=CA2418225645PDHA1c.*19T= (n.*19T=)
c.*884T= (n.*884T=)
n.987T=
c.*524T= (n.*524T=)
c.*647T= (n.*647T=)
n.631T=
Xg.19359672_19359673delCA2693251355PDHA1c.*19_*20del (n.*19_*20del)
c.*884_*885del (n.*884_*885del)
n.987_988del
c.*524_*525del (n.*524_*525del)
c.*647_*648del (n.*647_*648del)
n.631_632del
 gnomAD v4
Xg.19359673delCA2579566477PDHA1c.*20del (n.*20del)
c.*885del (n.*885del)
n.988del
c.*525del (n.*525del)
c.*648del (n.*648del)
n.632del
Xg.19359673T>ACA2740044091PDHA1c.*20T>A (n.*20T>A)
c.*885T>A (n.*885T>A)
n.988T>A
c.*525T>A (n.*525T>A)
c.*648T>A (n.*648T>A)
n.632T>A
Xg.19359673T>CCA10363233PDHA1c.*20T>C (n.*20T>C)
c.*885T>C (n.*885T>C)
n.988T>C
c.*525T>C (n.*525T>C)
c.*648T>C (n.*648T>C)
n.632T>C
 dbSNP ExAC gnomAD v4
Xg.19359673T>GCA2579566478PDHA1c.*20T>G (n.*20T>G)
c.*885T>G (n.*885T>G)
n.988T>G
c.*525T>G (n.*525T>G)
c.*648T>G (n.*648T>G)
n.632T>G
 gnomAD v4
Xg.19359673T=CA2418225646PDHA1c.*20T= (n.*20T=)
c.*885T= (n.*885T=)
n.988T=
c.*525T= (n.*525T=)
c.*648T= (n.*648T=)
n.632T=
Xg.19359673_19359682dupCA2693251356PDHA1c.*20_*29dup (n.*20_*29dup)
c.*885_*894dup (n.*885_*894dup)
n.988_997dup
c.*525_*534dup (n.*525_*534dup)
c.*648_*657dup (n.*648_*657dup)
n.632_641dup
 gnomAD v4
Xg.19359673_19359693delCA2693251357PDHA1c.*20_*40del (n.*20_*40del)
c.*885_*905del (n.*885_*905del)
n.988_1008del
c.*525_*545del (n.*525_*545del)
c.*648_*668del (n.*648_*668del)
n.632_652del
 gnomAD v4
Xg.19359674A=CA2418225647PDHA1c.*21A= (n.*21A=)
c.*886A= (n.*886A=)
n.989A=
c.*526A= (n.*526A=)
c.*649A= (n.*649A=)
n.633A=
Xg.19359674A>CCA2740044092PDHA1c.*21A>C (n.*21A>C)
c.*886A>C (n.*886A>C)
n.989A>C
c.*526A>C (n.*526A>C)
c.*649A>C (n.*649A>C)
n.633A>C
Xg.19359674A>GCA1131434630PDHA1c.*21A>G (n.*21A>G)
c.*886A>G (n.*886A>G)
n.989A>G
c.*526A>G (n.*526A>G)
c.*649A>G (n.*649A>G)
n.633A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.19359674A>TCA2740044093PDHA1c.*21A>T (n.*21A>T)
c.*886A>T (n.*886A>T)
n.989A>T
c.*526A>T (n.*526A>T)
c.*649A>T (n.*649A>T)
n.633A>T
Xg.19359675T>GCA2579566479PDHA1c.*22T>G (n.*22T>G)
c.*887T>G (n.*887T>G)
n.990T>G
c.*527T>G (n.*527T>G)
c.*650T>G (n.*650T>G)
n.634T>G
 gnomAD v4
Xg.19359675_19359676delinsTACA2418225648PDHA1c.*22_*23delinsTA (n.*22_*23delinsTA)
c.*887_*888delinsTA (n.*887_*888delinsTA)
n.990_991delinsTA
c.*527_*528delinsTA (n.*527_*528delinsTA)
c.*650_*651delinsTA (n.*650_*651delinsTA)
n.634_635delinsTA
Xg.19359675_19359681dupCA10363234PDHA1c.*22_*28dup (n.*22_*28dup)
c.*887_*893dup (n.*887_*893dup)
n.990_996dup
c.*527_*533dup (n.*527_*533dup)
c.*650_*656dup (n.*650_*656dup)
n.634_640dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359675_19359691dupCA10363235PDHA1c.*22_*38dup (n.*22_*38dup)
c.*887_*903dup (n.*887_*903dup)
n.990_1006dup
c.*527_*543dup (n.*527_*543dup)
c.*650_*666dup (n.*650_*666dup)
n.634_650dup
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19359676delCA873743031PDHA1c.*23del (n.*23del)
c.*888del (n.*888del)
n.991del
c.*528del (n.*528del)
c.*651del (n.*651del)
n.635del
 dbSNP gnomAD v3 gnomAD v4
Xg.19359676A>CCA2740044094PDHA1c.*23A>C (n.*23A>C)
c.*888A>C (n.*888A>C)
n.991A>C
c.*528A>C (n.*528A>C)
c.*651A>C (n.*651A>C)
n.635A>C
Xg.19359676A>GCA2740044095PDHA1c.*23A>G (n.*23A>G)
c.*888A>G (n.*888A>G)
n.991A>G
c.*528A>G (n.*528A>G)
c.*651A>G (n.*651A>G)
n.635A>G
Xg.19359676A>TCA2740044096PDHA1c.*23A>T (n.*23A>T)
c.*888A>T (n.*888A>T)
n.991A>T
c.*528A>T (n.*528A>T)
c.*651A>T (n.*651A>T)
n.635A>T
Xg.19359677_19359693dupCA2693251358PDHA1c.*24_*40dup (n.*24_*40dup)
c.*889_*905dup (n.*889_*905dup)
n.992_1008dup
c.*529_*545dup (n.*529_*545dup)
c.*652_*668dup (n.*652_*668dup)
n.636_652dup
 gnomAD v4
Xg.19359677C>ACA640857104PDHA1c.*24C>A (n.*24C>A)
c.*889C>A (n.*889C>A)
n.992C>A
c.*529C>A (n.*529C>A)
c.*652C>A (n.*652C>A)
n.636C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.19359677C=CA2418225649PDHA1c.*24C= (n.*24C=)
c.*889C= (n.*889C=)
n.992C=
c.*529C= (n.*529C=)
c.*652C= (n.*652C=)
n.636C=
Xg.19359677C>GCA2693251359PDHA1c.*24C>G (n.*24C>G)
c.*889C>G (n.*889C>G)
n.992C>G
c.*529C>G (n.*529C>G)
c.*652C>G (n.*652C>G)
n.636C>G
 gnomAD v4
Xg.19359677C>TCA640857105PDHA1c.*24C>T (n.*24C>T)
c.*889C>T (n.*889C>T)
n.992C>T
c.*529C>T (n.*529C>T)
c.*652C>T (n.*652C>T)
n.636C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.19359678C>ACA2693251360PDHA1c.*25C>A (n.*25C>A)
c.*890C>A (n.*890C>A)
n.993C>A
c.*530C>A (n.*530C>A)
c.*653C>A (n.*653C>A)
n.637C>A
 gnomAD v4
Xg.19359678C>TCA2693251361PDHA1c.*25C>T (n.*25C>T)
c.*890C>T (n.*890C>T)
n.993C>T
c.*530C>T (n.*530C>T)
c.*653C>T (n.*653C>T)
n.637C>T
 gnomAD v4
Xg.19359679T>ACA2740044097PDHA1c.*26T>A (n.*26T>A)
c.*891T>A (n.*891T>A)
n.994T>A
c.*531T>A (n.*531T>A)
c.*654T>A (n.*654T>A)
n.638T>A
Xg.19359679T>CCA2693251362PDHA1c.*26T>C (n.*26T>C)
c.*891T>C (n.*891T>C)
n.994T>C
c.*531T>C (n.*531T>C)
c.*654T>C (n.*654T>C)
n.638T>C
 gnomAD v4
Xg.19359679T>GCA2740044098PDHA1c.*26T>G (n.*26T>G)
c.*891T>G (n.*891T>G)
n.994T>G
c.*531T>G (n.*531T>G)
c.*654T>G (n.*654T>G)
n.638T>G
Xg.19359680T>ACA640857106PDHA1c.*27T>A (n.*27T>A)
c.*892T>A (n.*892T>A)
n.995T>A
c.*532T>A (n.*532T>A)
c.*655T>A (n.*655T>A)
n.639T>A
 dbSNP gnomAD v2 gnomAD v4
Xg.19359680T>CCA2740044099PDHA1c.*27T>C (n.*27T>C)
c.*892T>C (n.*892T>C)
n.995T>C
c.*532T>C (n.*532T>C)
c.*655T>C (n.*655T>C)
n.639T>C
Xg.19359680T>GCA2740044100PDHA1c.*27T>G (n.*27T>G)
c.*892T>G (n.*892T>G)
n.995T>G
c.*532T>G (n.*532T>G)
c.*655T>G (n.*655T>G)
n.639T>G
Xg.19359680T=CA2418225650PDHA1c.*27T= (n.*27T=)
c.*892T= (n.*892T=)
n.995T=
c.*532T= (n.*532T=)
c.*655T= (n.*655T=)
n.639T=
Xg.19359681C>ACA2693251363PDHA1c.*28C>A (n.*28C>A)
c.*893C>A (n.*893C>A)
n.996C>A
c.*533C>A (n.*533C>A)
c.*656C>A (n.*656C>A)
n.640C>A
 gnomAD v4
Xg.19359681C>GCA2740044101PDHA1c.*28C>G (n.*28C>G)
c.*893C>G (n.*893C>G)
n.996C>G
c.*533C>G (n.*533C>G)
c.*656C>G (n.*656C>G)
n.640C>G
Xg.19359681C>TCA2510546983PDHA1c.*28C>T (n.*28C>T)
c.*893C>T (n.*893C>T)
n.996C>T
c.*533C>T (n.*533C>T)
c.*656C>T (n.*656C>T)
n.640C>T
Xg.19359684_19359694delCA2693251364PDHA1c.*31_*41del (n.*31_*41del)
c.*896_*906del (n.*896_*906del)
n.999_1009del
c.*536_*546del (n.*536_*546del)
c.*659_*669del (n.*659_*669del)
n.643_653del
 gnomAD v4
Xg.19359682A>GCA2693251365PDHA1c.*29A>G (n.*29A>G)
c.*894A>G (n.*894A>G)
n.997A>G
c.*534A>G (n.*534A>G)
c.*657A>G (n.*657A>G)
n.641A>G
 gnomAD v4
Xg.19359682A>TCA2740044102PDHA1c.*29A>T (n.*29A>T)
c.*894A>T (n.*894A>T)
n.997A>T
c.*534A>T (n.*534A>T)
c.*657A>T (n.*657A>T)
n.641A>T
Xg.19359683G>ACA2740044103PDHA1c.*30G>A (n.*30G>A)
c.*895G>A (n.*895G>A)
n.998G>A
c.*535G>A (n.*535G>A)
c.*658G>A (n.*658G>A)
n.642G>A
Xg.19359683G>CCA2740044104PDHA1c.*30G>C (n.*30G>C)
c.*895G>C (n.*895G>C)
n.998G>C
c.*535G>C (n.*535G>C)
c.*658G>C (n.*658G>C)
n.642G>C
Xg.19359683G>TCA2693251368PDHA1c.*30G>T (n.*30G>T)
c.*895G>T (n.*895G>T)
n.998G>T
c.*535G>T (n.*535G>T)
c.*658G>T (n.*658G>T)
n.642G>T
 gnomAD v4
Xg.19359687dupCA2693251366PDHA1c.*34dup (n.*34dup)
c.*899dup (n.*899dup)
n.1002dup
c.*539dup (n.*539dup)
c.*662dup (n.*662dup)
n.646dup
 gnomAD v4
Xg.19359687delCA2693251367PDHA1c.*34del (n.*34del)
c.*899del (n.*899del)
n.1002del
c.*539del (n.*539del)
c.*662del (n.*662del)
n.646del
 gnomAD v4
Xg.19359684G>CCA2740044105PDHA1c.*31G>C (n.*31G>C)
c.*896G>C (n.*896G>C)
n.999G>C
c.*536G>C (n.*536G>C)
c.*659G>C (n.*659G>C)
n.643G>C
Xg.19359684G>TCA2740044106PDHA1c.*31G>T (n.*31G>T)
c.*896G>T (n.*896G>T)
n.999G>T
c.*536G>T (n.*536G>T)
c.*659G>T (n.*659G>T)
n.643G>T
Xg.19359685G>ACA2418225652PDHA1c.*32G>A (n.*32G>A)
c.*897G>A (n.*897G>A)
n.1000G>A
c.*537G>A (n.*537G>A)
c.*660G>A (n.*660G>A)
n.644G>A
 dbSNP
Xg.19359685G>CCA2740044108PDHA1c.*32G>C (n.*32G>C)
c.*897G>C (n.*897G>C)
n.1000G>C
c.*537G>C (n.*537G>C)
c.*660G>C (n.*660G>C)
n.644G>C
Xg.19359685G=CA2418225651PDHA1c.*32G= (n.*32G=)
c.*897G= (n.*897G=)
n.1000G=
c.*537G= (n.*537G=)
c.*660G= (n.*660G=)
n.644G=
Xg.19359685G>TCA2740044107PDHA1c.*32G>T (n.*32G>T)
c.*897G>T (n.*897G>T)
n.1000G>T
c.*537G>T (n.*537G>T)
c.*660G>T (n.*660G>T)
n.644G>T
Xg.19359686G>ACA873743032PDHA1c.*33G>A (n.*33G>A)
c.*898G>A (n.*898G>A)
n.1001G>A
c.*538G>A (n.*538G>A)
c.*661G>A (n.*661G>A)
n.645G>A
 dbSNP gnomAD v4
Xg.19359686G>CCA2740044110PDHA1c.*33G>C (n.*33G>C)
c.*898G>C (n.*898G>C)
n.1001G>C
c.*538G>C (n.*538G>C)
c.*661G>C (n.*661G>C)
n.645G>C
Xg.19359686G=CA2418225653PDHA1c.*33G= (n.*33G=)
c.*898G= (n.*898G=)
n.1001G=
c.*538G= (n.*538G=)
c.*661G= (n.*661G=)
n.645G=
Xg.19359686G>TCA2740044109PDHA1c.*33G>T (n.*33G>T)
c.*898G>T (n.*898G>T)
n.1001G>T
c.*538G>T (n.*538G>T)
c.*661G>T (n.*661G>T)
n.645G>T
Xg.19359687G>ACA2693251369PDHA1c.*34G>A (n.*34G>A)
c.*899G>A (n.*899G>A)
n.1002G>A
c.*539G>A (n.*539G>A)
c.*662G>A (n.*662G>A)
n.646G>A
 gnomAD v4
Xg.19359687G>CCA10363236PDHA1c.*34G>C (n.*34G>C)
c.*899G>C (n.*899G>C)
n.1002G>C
c.*539G>C (n.*539G>C)
c.*662G>C (n.*662G>C)
n.646G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19359687G=CA2418225654PDHA1c.*34G= (n.*34G=)
c.*899G= (n.*899G=)
n.1002G=
c.*539G= (n.*539G=)
c.*662G= (n.*662G=)
n.646G=
Xg.19359688C>ACA2693251370PDHA1c.*35C>A (n.*35C>A)
c.*900C>A (n.*900C>A)
n.1003C>A
c.*540C>A (n.*540C>A)
c.*663C>A (n.*663C>A)
n.647C>A
 gnomAD v4
Xg.19359688C=CA2418225655PDHA1c.*35C= (n.*35C=)
c.*900C= (n.*900C=)
n.1003C=
c.*540C= (n.*540C=)
c.*663C= (n.*663C=)
n.647C=
Xg.19359688C>GCA2740044111PDHA1c.*35C>G (n.*35C>G)
c.*900C>G (n.*900C>G)
n.1003C>G
c.*540C>G (n.*540C>G)
c.*663C>G (n.*663C>G)
n.647C>G
Xg.19359690_19359704dupCA327031420PDHA1c.*37_*51dup (n.*37_*51dup)
c.*902_*916dup (n.*902_*916dup)
n.1005_1019dup
c.*542_*556dup (n.*542_*556dup)
c.*665_*679dup (n.*665_*679dup)
n.649_663dup
 dbSNP gnomAD v3 gnomAD v4
Xg.19359689T>ACA2740044112PDHA1c.*36T>A (n.*36T>A)
c.*901T>A (n.*901T>A)
n.1004T>A
c.*541T>A (n.*541T>A)
c.*664T>A (n.*664T>A)
n.648T>A
Xg.19359689T>CCA2693251371PDHA1c.*36T>C (n.*36T>C)
c.*901T>C (n.*901T>C)
n.1004T>C
c.*541T>C (n.*541T>C)
c.*664T>C (n.*664T>C)
n.648T>C
 gnomAD v4
Xg.19359689T>GCA640857107PDHA1c.*36T>G (n.*36T>G)
c.*901T>G (n.*901T>G)
n.1004T>G
c.*541T>G (n.*541T>G)
c.*664T>G (n.*664T>G)
n.648T>G
 dbSNP gnomAD v2 gnomAD v4
Xg.19359689T=CA2418225656PDHA1c.*36T= (n.*36T=)
c.*901T= (n.*901T=)
n.1004T=
c.*541T= (n.*541T=)
c.*664T= (n.*664T=)
n.648T=
Xg.19359689dupCA920400549PDHA1c.*36dup (n.*36dup)
c.*901dup (n.*901dup)
n.1004dup
c.*541dup (n.*541dup)
c.*664dup (n.*664dup)
n.648dup
 dbSNP
Xg.19359690_19359734dupCA2558307669PDHA1c.*37_*81dup (n.*37_*81dup)
c.*902_*946dup (n.*902_*946dup)
n.1005_1049dup
c.*542_*586dup (n.*542_*586dup)
c.*665_*709dup (n.*665_*709dup)
n.649_693dup
Xg.19359690A>GCA2819937161PDHA1c.*37A>G (n.*37A>G)
c.*902A>G (n.*902A>G)
n.1005A>G
c.*542A>G (n.*542A>G)
c.*665A>G (n.*665A>G)
n.649A>G
Xg.19359691C>ACA2693251372PDHA1c.*38C>A (n.*38C>A)
c.*903C>A (n.*903C>A)
n.1006C>A
c.*543C>A (n.*543C>A)
c.*666C>A (n.*666C>A)
n.650C>A
 gnomAD v4
Xg.19359691C>GCA2740044113PDHA1c.*38C>G (n.*38C>G)
c.*903C>G (n.*903C>G)
n.1006C>G
c.*543C>G (n.*543C>G)
c.*666C>G (n.*666C>G)
n.650C>G
Xg.19359691C>TCA2740044114PDHA1c.*38C>T (n.*38C>T)
c.*903C>T (n.*903C>T)
n.1006C>T
c.*543C>T (n.*543C>T)
c.*666C>T (n.*666C>T)
n.650C>T
Xg.19359692delCA2579566480PDHA1c.*39del (n.*39del)
c.*904del (n.*904del)
n.1007del
c.*544del (n.*544del)
c.*667del (n.*667del)
n.651del
 gnomAD v4
Xg.19359691_19359695delinsCCAGACA2418225657PDHA1c.*38_*42delinsCCAGA (n.*38_*42delinsCCAGA)
c.*903_*907delinsCCAGA (n.*903_*907delinsCCAGA)
n.1006_1010delinsCCAGA
c.*543_*547delinsCCAGA (n.*543_*547delinsCCAGA)
c.*666_*670delinsCCAGA (n.*666_*670delinsCCAGA)
n.650_654delinsCCAGA
Xg.19359692C>ACA2693251374PDHA1c.*39C>A (n.*39C>A)
c.*904C>A (n.*904C>A)
n.1007C>A
c.*544C>A (n.*544C>A)
c.*667C>A (n.*667C>A)
n.651C>A
 gnomAD v4
Xg.19359692C=CA2418225658PDHA1c.*39C= (n.*39C=)
c.*904C= (n.*904C=)
n.1007C=
c.*544C= (n.*544C=)
c.*667C= (n.*667C=)
n.651C=
Xg.19359692C>GCA10363237PDHA1c.*39C>G (n.*39C>G)
c.*904C>G (n.*904C>G)
n.1007C>G
c.*544C>G (n.*544C>G)
c.*667C>G (n.*667C>G)
n.651C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359692C>TCA327031424PDHA1c.*39C>T (n.*39C>T)
c.*904C>T (n.*904C>T)
n.1007C>T
c.*544C>T (n.*544C>T)
c.*667C>T (n.*667C>T)
n.651C>T
 dbSNP gnomAD v4
Xg.19359695_19359698dupCA2693251373PDHA1c.*42_*45dup (n.*42_*45dup)
c.*907_*910dup (n.*907_*910dup)
n.1010_1013dup
c.*547_*550dup (n.*547_*550dup)
c.*670_*673dup (n.*670_*673dup)
n.654_657dup
 gnomAD v4
Xg.19359695_19359698delCA640857108PDHA1c.*42_*45del (n.*42_*45del)
c.*907_*910del (n.*907_*910del)
n.1010_1013del
c.*547_*550del (n.*547_*550del)
c.*670_*673del (n.*670_*673del)
n.654_657del
 dbSNP gnomAD v2 gnomAD v4
Xg.19359693A>CCA2819937167PDHA1c.*40A>C (n.*40A>C)
c.*905A>C (n.*905A>C)
n.1008A>C
c.*545A>C (n.*545A>C)
c.*668A>C (n.*668A>C)
n.652A>C
Xg.19359693_19359702dupCA640857109PDHA1c.*40_*49dup (n.*40_*49dup)
c.*905_*914dup (n.*905_*914dup)
n.1008_1017dup
c.*545_*554dup (n.*545_*554dup)
c.*668_*677dup (n.*668_*677dup)
n.652_661dup
 dbSNP gnomAD v2 gnomAD v4
Xg.19359693_19359709dupCA2693251375PDHA1c.*40_*56dup (n.*40_*56dup)
c.*905_*921dup (n.*905_*921dup)
n.1008_1024dup
c.*545_*561dup (n.*545_*561dup)
c.*668_*684dup (n.*668_*684dup)
n.652_668dup
 gnomAD v4
Xg.19359694_19359728dupCA2516780951PDHA1c.*41_*75dup (n.*41_*75dup)
c.*906_*940dup (n.*906_*940dup)
n.1009_1043dup
c.*546_*580dup (n.*546_*580dup)
c.*669_*703dup (n.*669_*703dup)
n.653_687dup
Xg.19359694_19359771dupCA2693251376PDHA1c.*41_*118dup (n.*41_*118dup)
c.*906_*983dup (n.*906_*983dup)
n.1009_1086dup
c.*546_*623dup (n.*546_*623dup)
c.*669_*746dup (n.*669_*746dup)
n.653_730dup
 gnomAD v4

Number of alleles fetched