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.19359539delCA2579566472PDHA1c.1080del (p.Thr361ArgfsTer?)
c.*751del (n.*751del)
c.1143del (p.Thr382ArgfsTer?)
c.1173del (p.Thr392ArgfsTer?)
n.854del
c.*391del (n.*391del)
c.*514del (n.*514del)
c.1059del (p.Thr354ArgfsTer?)
c.216del (p.Thr73ArgfsTer?)
n.498del
c.966del (p.Thr323ArgfsTer?)
c.1194del (p.Thr399ArgfsTer?)
c.1101del (p.Thr368ArgfsTer?)
Xg.19359539C>ACA515486429PDHA1c.1080C>A (p.Ala360=)
c.*751C>A (n.*751C>A)
c.1143C>A (p.Ala381=)
c.1173C>A (p.Ala391=)
n.854C>A
c.*391C>A (n.*391C>A)
c.*514C>A (n.*514C>A)
c.1059C>A (p.Ala353=)
c.216C>A (p.Ala72=)
n.498C>A
c.966C>A (p.Ala322=)
c.1194C>A (p.Ala398=)
c.1101C>A (p.Ala367=)
 COSMIC COSMIC
Xg.19359539C=CA2418225579PDHA1c.1080C= (p.Ala360=)
c.*751C= (n.*751C=)
c.1143C= (p.Ala381=)
c.1173C= (p.Ala391=)
n.854C=
c.*391C= (n.*391C=)
c.*514C= (n.*514C=)
c.1059C= (p.Ala353=)
c.216C= (p.Ala72=)
n.498C=
c.966C= (p.Ala322=)
c.1194C= (p.Ala398=)
c.1101C= (p.Ala367=)
Xg.19359539C>GCA515486430PDHA1c.1080C>G (p.Ala360=)
c.*751C>G (n.*751C>G)
c.1143C>G (p.Ala381=)
c.1173C>G (p.Ala391=)
n.854C>G
c.*391C>G (n.*391C>G)
c.*514C>G (n.*514C>G)
c.1059C>G (p.Ala353=)
c.216C>G (p.Ala72=)
n.498C>G
c.966C>G (p.Ala322=)
c.1194C>G (p.Ala398=)
c.1101C>G (p.Ala367=)
Xg.19359539C>TCA515486431PDHA1c.1080C>T (p.Ala360=)
c.*751C>T (n.*751C>T)
c.1143C>T (p.Ala381=)
c.1173C>T (p.Ala391=)
n.854C>T
c.*391C>T (n.*391C>T)
c.*514C>T (n.*514C>T)
c.1059C>T (p.Ala353=)
c.216C>T (p.Ala72=)
n.498C>T
c.966C>T (p.Ala322=)
c.1194C>T (p.Ala398=)
c.1101C>T (p.Ala367=)
 dbSNP gnomAD v3 gnomAD v4
Xg.19359540A=CA2418225580PDHA1c.1081A= (p.Thr361=)
c.*752A= (n.*752A=)
c.1144A= (p.Thr382=)
c.1174A= (p.Thr392=)
n.855A=
c.*392A= (n.*392A=)
c.*515A= (n.*515A=)
c.1060A= (p.Thr354=)
c.217A= (p.Thr73=)
n.499A=
c.967A= (p.Thr323=)
c.1195A= (p.Thr399=)
c.1102A= (p.Thr368=)
Xg.19359540A>CCA412396586PDHA1c.1081A>C (p.Thr361Pro)
c.*752A>C (n.*752A>C)
c.1144A>C (p.Thr382Pro)
c.1174A>C (p.Thr392Pro)
n.855A>C
c.*392A>C (n.*392A>C)
c.*515A>C (n.*515A>C)
c.1060A>C (p.Thr354Pro)
c.217A>C (p.Thr73Pro)
n.499A>C
c.967A>C (p.Thr323Pro)
c.1195A>C (p.Thr399Pro)
c.1102A>C (p.Thr368Pro)
 ClinVar dbSNP
Xg.19359540A>GCA412396588PDHA1c.1081A>G (p.Thr361Ala)
c.*752A>G (n.*752A>G)
c.1144A>G (p.Thr382Ala)
c.1174A>G (p.Thr392Ala)
n.855A>G
c.*392A>G (n.*392A>G)
c.*515A>G (n.*515A>G)
c.1060A>G (p.Thr354Ala)
c.217A>G (p.Thr73Ala)
n.499A>G
c.967A>G (p.Thr323Ala)
c.1195A>G (p.Thr399Ala)
c.1102A>G (p.Thr368Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359540A>TCA412396589PDHA1c.1081A>T (p.Thr361Ser)
c.*752A>T (n.*752A>T)
c.1144A>T (p.Thr382Ser)
c.1174A>T (p.Thr392Ser)
n.855A>T
c.*392A>T (n.*392A>T)
c.*515A>T (n.*515A>T)
c.1060A>T (p.Thr354Ser)
c.217A>T (p.Thr73Ser)
n.499A>T
c.967A>T (p.Thr323Ser)
c.1195A>T (p.Thr399Ser)
c.1102A>T (p.Thr368Ser)
Xg.19359541C>ACA412396591PDHA1c.1082C>A (p.Thr361Lys)
c.*753C>A (n.*753C>A)
c.1145C>A (p.Thr382Lys)
c.1175C>A (p.Thr392Lys)
n.856C>A
c.*393C>A (n.*393C>A)
c.*516C>A (n.*516C>A)
c.1061C>A (p.Thr354Lys)
c.218C>A (p.Thr73Lys)
n.500C>A
c.968C>A (p.Thr323Lys)
c.1196C>A (p.Thr399Lys)
c.1103C>A (p.Thr368Lys)
Xg.19359541C=CA2418225581PDHA1c.1082C= (p.Thr361=)
c.*753C= (n.*753C=)
c.1145C= (p.Thr382=)
c.1175C= (p.Thr392=)
n.856C=
c.*393C= (n.*393C=)
c.*516C= (n.*516C=)
c.1061C= (p.Thr354=)
c.218C= (p.Thr73=)
n.500C=
c.968C= (p.Thr323=)
c.1196C= (p.Thr399=)
c.1103C= (p.Thr368=)
Xg.19359541C>GCA412396593PDHA1c.1082C>G (p.Thr361Arg)
c.*753C>G (n.*753C>G)
c.1145C>G (p.Thr382Arg)
c.1175C>G (p.Thr392Arg)
n.856C>G
c.*393C>G (n.*393C>G)
c.*516C>G (n.*516C>G)
c.1061C>G (p.Thr354Arg)
c.218C>G (p.Thr73Arg)
n.500C>G
c.968C>G (p.Thr323Arg)
c.1196C>G (p.Thr399Arg)
c.1103C>G (p.Thr368Arg)
Xg.19359541C>TCA10363204PDHA1c.1082C>T (p.Thr361Met)
c.*753C>T (n.*753C>T)
c.1145C>T (p.Thr382Met)
c.1175C>T (p.Thr392Met)
n.856C>T
c.*393C>T (n.*393C>T)
c.*516C>T (n.*516C>T)
c.1061C>T (p.Thr354Met)
c.218C>T (p.Thr73Met)
n.500C>T
c.968C>T (p.Thr323Met)
c.1196C>T (p.Thr399Met)
c.1103C>T (p.Thr368Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359542G>ACA10363206PDHA1c.1083G>A (p.Thr361=)
c.*754G>A (n.*754G>A)
c.1146G>A (p.Thr382=)
c.1176G>A (p.Thr392=)
n.857G>A
c.*394G>A (n.*394G>A)
c.*517G>A (n.*517G>A)
c.1062G>A (p.Thr354=)
c.219G>A (p.Thr73=)
n.501G>A
c.969G>A (p.Thr323=)
c.1197G>A (p.Thr399=)
c.1104G>A (p.Thr368=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19359542G>CCA515486432PDHA1c.1083G>C (p.Thr361=)
c.*754G>C (n.*754G>C)
c.1146G>C (p.Thr382=)
c.1176G>C (p.Thr392=)
n.857G>C
c.*394G>C (n.*394G>C)
c.*517G>C (n.*517G>C)
c.1062G>C (p.Thr354=)
c.219G>C (p.Thr73=)
n.501G>C
c.969G>C (p.Thr323=)
c.1197G>C (p.Thr399=)
c.1104G>C (p.Thr368=)
 dbSNP
Xg.19359542G=CA2418225582PDHA1c.1083G= (p.Thr361=)
c.*754G= (n.*754G=)
c.1146G= (p.Thr382=)
c.1176G= (p.Thr392=)
n.857G=
c.*394G= (n.*394G=)
c.*517G= (n.*517G=)
c.1062G= (p.Thr354=)
c.219G= (p.Thr73=)
n.501G=
c.969G= (p.Thr323=)
c.1197G= (p.Thr399=)
c.1104G= (p.Thr368=)
Xg.19359542G>TCA10363205PDHA1c.1083G>T (p.Thr361=)
c.*754G>T (n.*754G>T)
c.1146G>T (p.Thr382=)
c.1176G>T (p.Thr392=)
n.857G>T
c.*394G>T (n.*394G>T)
c.*517G>T (n.*517G>T)
c.1062G>T (p.Thr354=)
c.219G>T (p.Thr73=)
n.501G>T
c.969G>T (p.Thr323=)
c.1197G>T (p.Thr399=)
c.1104G>T (p.Thr368=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359543G>ACA412396598PDHA1c.1084G>A (p.Ala362Thr)
c.*755G>A (n.*755G>A)
c.1147G>A (p.Ala383Thr)
c.1177G>A (p.Ala393Thr)
n.858G>A
c.*395G>A (n.*395G>A)
c.*518G>A (n.*518G>A)
c.1063G>A (p.Ala355Thr)
c.220G>A (p.Ala74Thr)
n.502G>A
c.970G>A (p.Ala324Thr)
c.1198G>A (p.Ala400Thr)
c.1105G>A (p.Ala369Thr)
 ClinVar dbSNP
Xg.19359543G>CCA412396600PDHA1c.1084G>C (p.Ala362Pro)
c.*755G>C (n.*755G>C)
c.1147G>C (p.Ala383Pro)
c.1177G>C (p.Ala393Pro)
n.858G>C
c.*395G>C (n.*395G>C)
c.*518G>C (n.*518G>C)
c.1063G>C (p.Ala355Pro)
c.220G>C (p.Ala74Pro)
n.502G>C
c.970G>C (p.Ala324Pro)
c.1198G>C (p.Ala400Pro)
c.1105G>C (p.Ala369Pro)
Xg.19359543G=CA2418225583PDHA1c.1084G= (p.Ala362=)
c.*755G= (n.*755G=)
c.1147G= (p.Ala383=)
c.1177G= (p.Ala393=)
n.858G=
c.*395G= (n.*395G=)
c.*518G= (n.*518G=)
c.1063G= (p.Ala355=)
c.220G= (p.Ala74=)
n.502G=
c.970G= (p.Ala324=)
c.1198G= (p.Ala400=)
c.1105G= (p.Ala369=)
Xg.19359543G>TCA327031144PDHA1c.1084G>T (p.Ala362Ser)
c.*755G>T (n.*755G>T)
c.1147G>T (p.Ala383Ser)
c.1177G>T (p.Ala393Ser)
n.858G>T
c.*395G>T (n.*395G>T)
c.*518G>T (n.*518G>T)
c.1063G>T (p.Ala355Ser)
c.220G>T (p.Ala74Ser)
n.502G>T
c.970G>T (p.Ala324Ser)
c.1198G>T (p.Ala400Ser)
c.1105G>T (p.Ala369Ser)
 dbSNP gnomAD v4
Xg.19359543_19359548delCA2695231669PDHA1c.1084_1089del (p.Ala362_Asp363del)
c.*755_*760del (n.*755_*760del)
c.1147_1152del (p.Ala383_Asp384del)
c.1177_1182del (p.Ala393_Asp394del)
n.858_863del
c.*395_*400del (n.*395_*400del)
c.*518_*523del (n.*518_*523del)
c.1063_1068del (p.Ala355_Asp356del)
c.220_225del (p.Ala74_Asp75del)
n.502_507del
c.970_975del (p.Ala324_Asp325del)
c.1198_1203del (p.Ala400_Asp401del)
c.1105_1110del (p.Ala369_Asp370del)
Xg.19359544C>ACA412396604PDHA1c.1085C>A (p.Ala362Asp)
c.*756C>A (n.*756C>A)
c.1148C>A (p.Ala383Asp)
c.1178C>A (p.Ala393Asp)
n.859C>A
c.*396C>A (n.*396C>A)
c.*519C>A (n.*519C>A)
c.1064C>A (p.Ala355Asp)
c.221C>A (p.Ala74Asp)
n.503C>A
c.971C>A (p.Ala324Asp)
c.1199C>A (p.Ala400Asp)
c.1106C>A (p.Ala369Asp)
Xg.19359544C>GCA412396606PDHA1c.1085C>G (p.Ala362Gly)
c.*756C>G (n.*756C>G)
c.1148C>G (p.Ala383Gly)
c.1178C>G (p.Ala393Gly)
n.859C>G
c.*396C>G (n.*396C>G)
c.*519C>G (n.*519C>G)
c.1064C>G (p.Ala355Gly)
c.221C>G (p.Ala74Gly)
n.503C>G
c.971C>G (p.Ala324Gly)
c.1199C>G (p.Ala400Gly)
c.1106C>G (p.Ala369Gly)
Xg.19359544C>TCA412396608PDHA1c.1085C>T (p.Ala362Val)
c.*756C>T (n.*756C>T)
c.1148C>T (p.Ala383Val)
c.1178C>T (p.Ala393Val)
n.859C>T
c.*396C>T (n.*396C>T)
c.*519C>T (n.*519C>T)
c.1064C>T (p.Ala355Val)
c.221C>T (p.Ala74Val)
n.503C>T
c.971C>T (p.Ala324Val)
c.1199C>T (p.Ala400Val)
c.1106C>T (p.Ala369Val)
Xg.19359545C>ACA515486433PDHA1c.1086C>A (p.Ala362=)
c.*757C>A (n.*757C>A)
c.1149C>A (p.Ala383=)
c.1179C>A (p.Ala393=)
n.860C>A
c.*397C>A (n.*397C>A)
c.*520C>A (n.*520C>A)
c.1065C>A (p.Ala355=)
c.222C>A (p.Ala74=)
n.504C>A
c.972C>A (p.Ala324=)
c.1200C>A (p.Ala400=)
c.1107C>A (p.Ala369=)
 ClinVar dbSNP gnomAD v4
Xg.19359545C=CA2418225584PDHA1c.1086C= (p.Ala362=)
c.*757C= (n.*757C=)
c.1149C= (p.Ala383=)
c.1179C= (p.Ala393=)
n.860C=
c.*397C= (n.*397C=)
c.*520C= (n.*520C=)
c.1065C= (p.Ala355=)
c.222C= (p.Ala74=)
n.504C=
c.972C= (p.Ala324=)
c.1200C= (p.Ala400=)
c.1107C= (p.Ala369=)
Xg.19359545C>GCA515486434PDHA1c.1086C>G (p.Ala362=)
c.*757C>G (n.*757C>G)
c.1149C>G (p.Ala383=)
c.1179C>G (p.Ala393=)
n.860C>G
c.*397C>G (n.*397C>G)
c.*520C>G (n.*520C>G)
c.1065C>G (p.Ala355=)
c.222C>G (p.Ala74=)
n.504C>G
c.972C>G (p.Ala324=)
c.1200C>G (p.Ala400=)
c.1107C>G (p.Ala369=)
Xg.19359545C>TCA10363207PDHA1c.1086C>T (p.Ala362=)
c.*757C>T (n.*757C>T)
c.1149C>T (p.Ala383=)
c.1179C>T (p.Ala393=)
n.860C>T
c.*397C>T (n.*397C>T)
c.*520C>T (n.*520C>T)
c.1065C>T (p.Ala355=)
c.222C>T (p.Ala74=)
n.504C>T
c.972C>T (p.Ala324=)
c.1200C>T (p.Ala400=)
c.1107C>T (p.Ala369=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359546G>ACA10363208PDHA1c.1087G>A (p.Asp363Asn)
c.*758G>A (n.*758G>A)
c.1150G>A (p.Asp384Asn)
c.1180G>A (p.Asp394Asn)
n.861G>A
c.*398G>A (n.*398G>A)
c.*521G>A (n.*521G>A)
c.1066G>A (p.Asp356Asn)
c.223G>A (p.Asp75Asn)
n.505G>A
c.973G>A (p.Asp325Asn)
c.1201G>A (p.Asp401Asn)
c.1108G>A (p.Asp370Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359546G>CCA412396616PDHA1c.1087G>C (p.Asp363His)
c.*758G>C (n.*758G>C)
c.1150G>C (p.Asp384His)
c.1180G>C (p.Asp394His)
n.861G>C
c.*398G>C (n.*398G>C)
c.*521G>C (n.*521G>C)
c.1066G>C (p.Asp356His)
c.223G>C (p.Asp75His)
n.505G>C
c.973G>C (p.Asp325His)
c.1201G>C (p.Asp401His)
c.1108G>C (p.Asp370His)
Xg.19359546G=CA2418225585PDHA1c.1087G= (p.Asp363=)
c.*758G= (n.*758G=)
c.1150G= (p.Asp384=)
c.1180G= (p.Asp394=)
n.861G=
c.*398G= (n.*398G=)
c.*521G= (n.*521G=)
c.1066G= (p.Asp356=)
c.223G= (p.Asp75=)
n.505G=
c.973G= (p.Asp325=)
c.1201G= (p.Asp401=)
c.1108G= (p.Asp370=)
Xg.19359546G>TCA412396613PDHA1c.1087G>T (p.Asp363Tyr)
c.*758G>T (n.*758G>T)
c.1150G>T (p.Asp384Tyr)
c.1180G>T (p.Asp394Tyr)
n.861G>T
c.*398G>T (n.*398G>T)
c.*521G>T (n.*521G>T)
c.1066G>T (p.Asp356Tyr)
c.223G>T (p.Asp75Tyr)
n.505G>T
c.973G>T (p.Asp325Tyr)
c.1201G>T (p.Asp401Tyr)
c.1108G>T (p.Asp370Tyr)
Xg.19359546_19359554dupCA2499226555PDHA1c.1087_1095dup (p.Glu365_Pro366insAspProGlu)
c.*758_*766dup (n.*758_*766dup)
c.1150_1158dup (p.Glu386_Pro387insAspProGlu)
c.1180_1188dup (p.Glu396_Pro397insAspProGlu)
n.861_869dup
c.*398_*406dup (n.*398_*406dup)
c.*521_*529dup (n.*521_*529dup)
c.1066_1074dup (p.Glu358_Pro359insAspProGlu)
c.223_231dup (p.Glu77_Pro78insAspProGlu)
n.505_513dup
c.973_981dup (p.Glu327_Pro328insAspProGlu)
c.1201_1209dup (p.Glu403_Pro404insAspProGlu)
c.1108_1116dup (p.Glu372_Pro373insAspProGlu)
 ClinVar dbSNP
Xg.19359547A>CCA412396618PDHA1c.1088A>C (p.Asp363Ala)
c.*759A>C (n.*759A>C)
c.1151A>C (p.Asp384Ala)
c.1181A>C (p.Asp394Ala)
n.862A>C
c.*399A>C (n.*399A>C)
c.*522A>C (n.*522A>C)
c.1067A>C (p.Asp356Ala)
c.224A>C (p.Asp75Ala)
n.506A>C
c.974A>C (p.Asp325Ala)
c.1202A>C (p.Asp401Ala)
c.1109A>C (p.Asp370Ala)
Xg.19359547A>GCA412396620PDHA1c.1088A>G (p.Asp363Gly)
c.*759A>G (n.*759A>G)
c.1151A>G (p.Asp384Gly)
c.1181A>G (p.Asp394Gly)
n.862A>G
c.*399A>G (n.*399A>G)
c.*522A>G (n.*522A>G)
c.1067A>G (p.Asp356Gly)
c.224A>G (p.Asp75Gly)
n.506A>G
c.974A>G (p.Asp325Gly)
c.1202A>G (p.Asp401Gly)
c.1109A>G (p.Asp370Gly)
Xg.19359547A>TCA412396622PDHA1c.1088A>T (p.Asp363Val)
c.*759A>T (n.*759A>T)
c.1151A>T (p.Asp384Val)
c.1181A>T (p.Asp394Val)
n.862A>T
c.*399A>T (n.*399A>T)
c.*522A>T (n.*522A>T)
c.1067A>T (p.Asp356Val)
c.224A>T (p.Asp75Val)
n.506A>T
c.974A>T (p.Asp325Val)
c.1202A>T (p.Asp401Val)
c.1109A>T (p.Asp370Val)
Xg.19359548T>ACA412396625PDHA1c.1089T>A (p.Asp363Glu)
c.*760T>A (n.*760T>A)
c.1152T>A (p.Asp384Glu)
c.1182T>A (p.Asp394Glu)
n.863T>A
c.*400T>A (n.*400T>A)
c.*523T>A (n.*523T>A)
c.1068T>A (p.Asp356Glu)
c.225T>A (p.Asp75Glu)
n.507T>A
c.975T>A (p.Asp325Glu)
c.1203T>A (p.Asp401Glu)
c.1110T>A (p.Asp370Glu)
Xg.19359548T>CCA10363209PDHA1c.1089T>C (p.Asp363=)
c.*760T>C (n.*760T>C)
c.1152T>C (p.Asp384=)
c.1182T>C (p.Asp394=)
n.863T>C
c.*400T>C (n.*400T>C)
c.*523T>C (n.*523T>C)
c.1068T>C (p.Asp356=)
c.225T>C (p.Asp75=)
n.507T>C
c.975T>C (p.Asp325=)
c.1203T>C (p.Asp401=)
c.1110T>C (p.Asp370=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359548T>GCA412396628PDHA1c.1089T>G (p.Asp363Glu)
c.*760T>G (n.*760T>G)
c.1152T>G (p.Asp384Glu)
c.1182T>G (p.Asp394Glu)
n.863T>G
c.*400T>G (n.*400T>G)
c.*523T>G (n.*523T>G)
c.1068T>G (p.Asp356Glu)
c.225T>G (p.Asp75Glu)
n.507T>G
c.975T>G (p.Asp325Glu)
c.1203T>G (p.Asp401Glu)
c.1110T>G (p.Asp370Glu)
Xg.19359548T=CA2418225586PDHA1c.1089T= (p.Asp363=)
c.*760T= (n.*760T=)
c.1152T= (p.Asp384=)
c.1182T= (p.Asp394=)
n.863T=
c.*400T= (n.*400T=)
c.*523T= (n.*523T=)
c.1068T= (p.Asp356=)
c.225T= (p.Asp75=)
n.507T=
c.975T= (p.Asp325=)
c.1203T= (p.Asp401=)
c.1110T= (p.Asp370=)
Xg.19359549C>ACA412396630PDHA1c.1090C>A (p.Pro364Thr)
c.*761C>A (n.*761C>A)
c.1153C>A (p.Pro385Thr)
c.1183C>A (p.Pro395Thr)
n.864C>A
c.*401C>A (n.*401C>A)
c.*524C>A (n.*524C>A)
c.1069C>A (p.Pro357Thr)
c.226C>A (p.Pro76Thr)
n.508C>A
c.976C>A (p.Pro326Thr)
c.1204C>A (p.Pro402Thr)
c.1111C>A (p.Pro371Thr)
Xg.19359549C>GCA412396633PDHA1c.1090C>G (p.Pro364Ala)
c.*761C>G (n.*761C>G)
c.1153C>G (p.Pro385Ala)
c.1183C>G (p.Pro395Ala)
n.864C>G
c.*401C>G (n.*401C>G)
c.*524C>G (n.*524C>G)
c.1069C>G (p.Pro357Ala)
c.226C>G (p.Pro76Ala)
n.508C>G
c.976C>G (p.Pro326Ala)
c.1204C>G (p.Pro402Ala)
c.1111C>G (p.Pro371Ala)
 ClinVar dbSNP
Xg.19359549C>TCA412396635PDHA1c.1090C>T (p.Pro364Ser)
c.*761C>T (n.*761C>T)
c.1153C>T (p.Pro385Ser)
c.1183C>T (p.Pro395Ser)
n.864C>T
c.*401C>T (n.*401C>T)
c.*524C>T (n.*524C>T)
c.1069C>T (p.Pro357Ser)
c.226C>T (p.Pro76Ser)
n.508C>T
c.976C>T (p.Pro326Ser)
c.1204C>T (p.Pro402Ser)
c.1111C>T (p.Pro371Ser)
Xg.19359549_19359569delinsCCTGAGCCACCTTTGGAAGAGCA2418225587PDHA1c.1090_1110delinsCCTGAGCCACCTTTGGAAGAG (p.Pro364=)
c.*761_*781delinsCCTGAGCCACCTTTGGAAGAG (n.*761_*781delinsCCTGAGCCACCTTTGGAAGAG)
c.1153_1173delinsCCTGAGCCACCTTTGGAAGAG (p.Pro385=)
c.1183_1203delinsCCTGAGCCACCTTTGGAAGAG (p.Pro395=)
n.864_884delinsCCTGAGCCACCTTTGGAAGAG
c.*401_*421delinsCCTGAGCCACCTTTGGAAGAG (n.*401_*421delinsCCTGAGCCACCTTTGGAAGAG)
c.*524_*544delinsCCTGAGCCACCTTTGGAAGAG (n.*524_*544delinsCCTGAGCCACCTTTGGAAGAG)
c.1069_1089delinsCCTGAGCCACCTTTGGAAGAG (p.Pro357=)
c.226_246delinsCCTGAGCCACCTTTGGAAGAG (p.Pro76=)
n.508_528delinsCCTGAGCCACCTTTGGAAGAG
c.976_996delinsCCTGAGCCACCTTTGGAAGAG (p.Pro326=)
c.1204_1224delinsCCTGAGCCACCTTTGGAAGAG (p.Pro402=)
c.1111_1131delinsCCTGAGCCACCTTTGGAAGAG (p.Pro371=)
Xg.19359550C>ACA412396638PDHA1c.1091C>A (p.Pro364His)
c.*762C>A (n.*762C>A)
c.1154C>A (p.Pro385His)
c.1184C>A (p.Pro395His)
n.865C>A
c.*402C>A (n.*402C>A)
c.*525C>A (n.*525C>A)
c.1070C>A (p.Pro357His)
c.227C>A (p.Pro76His)
n.509C>A
c.977C>A (p.Pro326His)
c.1205C>A (p.Pro402His)
c.1112C>A (p.Pro371His)
Xg.19359550C>GCA412396639PDHA1c.1091C>G (p.Pro364Arg)
c.*762C>G (n.*762C>G)
c.1154C>G (p.Pro385Arg)
c.1184C>G (p.Pro395Arg)
n.865C>G
c.*402C>G (n.*402C>G)
c.*525C>G (n.*525C>G)
c.1070C>G (p.Pro357Arg)
c.227C>G (p.Pro76Arg)
n.509C>G
c.977C>G (p.Pro326Arg)
c.1205C>G (p.Pro402Arg)
c.1112C>G (p.Pro371Arg)
Xg.19359550C>TCA412396642PDHA1c.1091C>T (p.Pro364Leu)
c.*762C>T (n.*762C>T)
c.1154C>T (p.Pro385Leu)
c.1184C>T (p.Pro395Leu)
n.865C>T
c.*402C>T (n.*402C>T)
c.*525C>T (n.*525C>T)
c.1070C>T (p.Pro357Leu)
c.227C>T (p.Pro76Leu)
n.509C>T
c.977C>T (p.Pro326Leu)
c.1205C>T (p.Pro402Leu)
c.1112C>T (p.Pro371Leu)
Xg.19359553_19359572delCA121210PDHA1c.1094_1113del (p.Glu365GlyfsTer12)
c.*765_*784del (n.*765_*784del)
c.1157_1176del (p.Glu386GlyfsTer12)
c.1187_1206del (p.Glu396GlyfsTer12)
n.868_887del
c.*405_*424del (n.*405_*424del)
c.*528_*547del (n.*528_*547del)
c.1073_1092del (p.Glu358GlyfsTer12)
c.230_249del (p.Glu77GlyfsTer12)
n.512_531del
c.980_999del (p.Glu327GlyfsTer12)
c.1208_1227del (p.Glu403GlyfsTer12)
c.1115_1134del (p.Glu372GlyfsTer12)
 ClinVar dbSNP
Xg.19359551T>ACA515486435PDHA1c.1092T>A (p.Pro364=)
c.*763T>A (n.*763T>A)
c.1155T>A (p.Pro385=)
c.1185T>A (p.Pro395=)
n.866T>A
c.*403T>A (n.*403T>A)
c.*526T>A (n.*526T>A)
c.1071T>A (p.Pro357=)
c.228T>A (p.Pro76=)
n.510T>A
c.978T>A (p.Pro326=)
c.1206T>A (p.Pro402=)
c.1113T>A (p.Pro371=)
Xg.19359551T>CCA515486436PDHA1c.1092T>C (p.Pro364=)
c.*763T>C (n.*763T>C)
c.1155T>C (p.Pro385=)
c.1185T>C (p.Pro395=)
n.866T>C
c.*403T>C (n.*403T>C)
c.*526T>C (n.*526T>C)
c.1071T>C (p.Pro357=)
c.228T>C (p.Pro76=)
n.510T>C
c.978T>C (p.Pro326=)
c.1206T>C (p.Pro402=)
c.1113T>C (p.Pro371=)
 gnomAD v4
Xg.19359551T>GCA515486437PDHA1c.1092T>G (p.Pro364=)
c.*763T>G (n.*763T>G)
c.1155T>G (p.Pro385=)
c.1185T>G (p.Pro395=)
n.866T>G
c.*403T>G (n.*403T>G)
c.*526T>G (n.*526T>G)
c.1071T>G (p.Pro357=)
c.228T>G (p.Pro76=)
n.510T>G
c.978T>G (p.Pro326=)
c.1206T>G (p.Pro402=)
c.1113T>G (p.Pro371=)
Xg.19359551_19359568dupCA2695231670PDHA1c.1092_1109dup (p.Glu369_Glu370insAspGluProProLeuGlu)
c.*763_*780dup (n.*763_*780dup)
c.1155_1172dup (p.Glu390_Glu391insAspGluProProLeuGlu)
c.1185_1202dup (p.Glu400_Glu401insAspGluProProLeuGlu)
n.866_883dup
c.*403_*420dup (n.*403_*420dup)
c.*526_*543dup (n.*526_*543dup)
c.1071_1088dup (p.Glu362_Glu363insAspGluProProLeuGlu)
c.228_245dup (p.Glu81_Glu82insAspGluProProLeuGlu)
n.510_527dup
c.978_995dup (p.Glu331_Glu332insAspGluProProLeuGlu)
c.1206_1223dup (p.Glu407_Glu408insAspGluProProLeuGlu)
c.1113_1130dup (p.Glu376_Glu377insAspGluProProLeuGlu)
Xg.19359552G>ACA412396646PDHA1c.1093G>A (p.Glu365Lys)
c.*764G>A (n.*764G>A)
c.1156G>A (p.Glu386Lys)
c.1186G>A (p.Glu396Lys)
n.867G>A
c.*404G>A (n.*404G>A)
c.*527G>A (n.*527G>A)
c.1072G>A (p.Glu358Lys)
c.229G>A (p.Glu77Lys)
n.511G>A
c.979G>A (p.Glu327Lys)
c.1207G>A (p.Glu403Lys)
c.1114G>A (p.Glu372Lys)
 ClinVar dbSNP
Xg.19359552G>CCA412396650PDHA1c.1093G>C (p.Glu365Gln)
c.*764G>C (n.*764G>C)
c.1156G>C (p.Glu386Gln)
c.1186G>C (p.Glu396Gln)
n.867G>C
c.*404G>C (n.*404G>C)
c.*527G>C (n.*527G>C)
c.1072G>C (p.Glu358Gln)
c.229G>C (p.Glu77Gln)
n.511G>C
c.979G>C (p.Glu327Gln)
c.1207G>C (p.Glu403Gln)
c.1114G>C (p.Glu372Gln)
Xg.19359552G>TCA412396648PDHA1c.1093G>T (p.Glu365Ter)
c.*764G>T (n.*764G>T)
c.1156G>T (p.Glu386Ter)
c.1186G>T (p.Glu396Ter)
n.867G>T
c.*404G>T (n.*404G>T)
c.*527G>T (n.*527G>T)
c.1072G>T (p.Glu358Ter)
c.229G>T (p.Glu77Ter)
n.511G>T
c.979G>T (p.Glu327Ter)
c.1207G>T (p.Glu403Ter)
c.1114G>T (p.Glu372Ter)
Xg.19359553A=CA2418225588PDHA1c.1094A= (p.Glu365=)
c.*765A= (n.*765A=)
c.1157A= (p.Glu386=)
c.1187A= (p.Glu396=)
n.868A=
c.*405A= (n.*405A=)
c.*528A= (n.*528A=)
c.1073A= (p.Glu358=)
c.230A= (p.Glu77=)
n.512A=
c.980A= (p.Glu327=)
c.1208A= (p.Glu403=)
c.1115A= (p.Glu372=)
Xg.19359553A>CCA412396652PDHA1c.1094A>C (p.Glu365Ala)
c.*765A>C (n.*765A>C)
c.1157A>C (p.Glu386Ala)
c.1187A>C (p.Glu396Ala)
n.868A>C
c.*405A>C (n.*405A>C)
c.*528A>C (n.*528A>C)
c.1073A>C (p.Glu358Ala)
c.230A>C (p.Glu77Ala)
n.512A>C
c.980A>C (p.Glu327Ala)
c.1208A>C (p.Glu403Ala)
c.1115A>C (p.Glu372Ala)
Xg.19359553A>GCA412396654PDHA1c.1094A>G (p.Glu365Gly)
c.*765A>G (n.*765A>G)
c.1157A>G (p.Glu386Gly)
c.1187A>G (p.Glu396Gly)
n.868A>G
c.*405A>G (n.*405A>G)
c.*528A>G (n.*528A>G)
c.1073A>G (p.Glu358Gly)
c.230A>G (p.Glu77Gly)
n.512A>G
c.980A>G (p.Glu327Gly)
c.1208A>G (p.Glu403Gly)
c.1115A>G (p.Glu372Gly)
Xg.19359553A>TCA412396656PDHA1c.1094A>T (p.Glu365Val)
c.*765A>T (n.*765A>T)
c.1157A>T (p.Glu386Val)
c.1187A>T (p.Glu396Val)
n.868A>T
c.*405A>T (n.*405A>T)
c.*528A>T (n.*528A>T)
c.1073A>T (p.Glu358Val)
c.230A>T (p.Glu77Val)
n.512A>T
c.980A>T (p.Glu327Val)
c.1208A>T (p.Glu403Val)
c.1115A>T (p.Glu372Val)
Xg.19359554G>ACA515486438PDHA1c.1095G>A (p.Glu365=)
c.*766G>A (n.*766G>A)
c.1158G>A (p.Glu386=)
c.1188G>A (p.Glu396=)
n.869G>A
c.*406G>A (n.*406G>A)
c.*529G>A (n.*529G>A)
c.1074G>A (p.Glu358=)
c.231G>A (p.Glu77=)
n.513G>A
c.981G>A (p.Glu327=)
c.1209G>A (p.Glu403=)
c.1116G>A (p.Glu372=)
Xg.19359554G>CCA412396664PDHA1c.1095G>C (p.Glu365Asp)
c.*766G>C (n.*766G>C)
c.1158G>C (p.Glu386Asp)
c.1188G>C (p.Glu396Asp)
n.869G>C
c.*406G>C (n.*406G>C)
c.*529G>C (n.*529G>C)
c.1074G>C (p.Glu358Asp)
c.231G>C (p.Glu77Asp)
n.513G>C
c.981G>C (p.Glu327Asp)
c.1209G>C (p.Glu403Asp)
c.1116G>C (p.Glu372Asp)
Xg.19359554G>TCA412396660PDHA1c.1095G>T (p.Glu365Asp)
c.*766G>T (n.*766G>T)
c.1158G>T (p.Glu386Asp)
c.1188G>T (p.Glu396Asp)
n.869G>T
c.*406G>T (n.*406G>T)
c.*529G>T (n.*529G>T)
c.1074G>T (p.Glu358Asp)
c.231G>T (p.Glu77Asp)
n.513G>T
c.981G>T (p.Glu327Asp)
c.1209G>T (p.Glu403Asp)
c.1116G>T (p.Glu372Asp)
Xg.19359554_19359589dupCA121224PDHA1c.1095_1130dup (p.Ser377_Ser378insProProLeuGluGluLeuGlyTyrHisIleTyrSer)
c.*766_*801dup (n.*766_*801dup)
c.1158_1193dup (p.Ser398_Ser399insProProLeuGluGluLeuGlyTyrHisIleTyrSer)
c.1188_1223dup (p.Ser408_Ser409insProProLeuGluGluLeuGlyTyrHisIleTyrSer)
n.869_904dup
c.*406_*441dup (n.*406_*441dup)
c.*529_*564dup (n.*529_*564dup)
c.1074_1109dup (p.Ser370_Ser371insProProLeuGluGluLeuGlyTyrHisIleTyrSer)
c.231_266dup (p.Ser89_Ser90insProProLeuGluGluLeuGlyTyrHisIleTyrSer)
n.513_548dup
c.981_1016dup (p.Ser339_Ser340insProProLeuGluGluLeuGlyTyrHisIleTyrSer)
c.1209_1244dup (p.Ser415_Ser416insProProLeuGluGluLeuGlyTyrHisIleTyrSer)
c.1116_1151dup (p.Ser384_Ser385insProProLeuGluGluLeuGlyTyrHisIleTyrSer)
 ClinVar dbSNP
Xg.19359555C>ACA412396669PDHA1c.1096C>A (p.Pro366Thr)
c.*767C>A (n.*767C>A)
c.1159C>A (p.Pro387Thr)
c.1189C>A (p.Pro397Thr)
n.870C>A
c.*407C>A (n.*407C>A)
c.*530C>A (n.*530C>A)
c.1075C>A (p.Pro359Thr)
c.232C>A (p.Pro78Thr)
n.514C>A
c.982C>A (p.Pro328Thr)
c.1210C>A (p.Pro404Thr)
c.1117C>A (p.Pro373Thr)
Xg.19359555C>GCA412396675PDHA1c.1096C>G (p.Pro366Ala)
c.*767C>G (n.*767C>G)
c.1159C>G (p.Pro387Ala)
c.1189C>G (p.Pro397Ala)
n.870C>G
c.*407C>G (n.*407C>G)
c.*530C>G (n.*530C>G)
c.1075C>G (p.Pro359Ala)
c.232C>G (p.Pro78Ala)
n.514C>G
c.982C>G (p.Pro328Ala)
c.1210C>G (p.Pro404Ala)
c.1117C>G (p.Pro373Ala)
Xg.19359555C>TCA412396672PDHA1c.1096C>T (p.Pro366Ser)
c.*767C>T (n.*767C>T)
c.1159C>T (p.Pro387Ser)
c.1189C>T (p.Pro397Ser)
n.870C>T
c.*407C>T (n.*407C>T)
c.*530C>T (n.*530C>T)
c.1075C>T (p.Pro359Ser)
c.232C>T (p.Pro78Ser)
n.514C>T
c.982C>T (p.Pro328Ser)
c.1210C>T (p.Pro404Ser)
c.1117C>T (p.Pro373Ser)
Xg.19359556C>ACA412396678PDHA1c.1097C>A (p.Pro366Gln)
c.*768C>A (n.*768C>A)
c.1160C>A (p.Pro387Gln)
c.1190C>A (p.Pro397Gln)
n.871C>A
c.*408C>A (n.*408C>A)
c.*531C>A (n.*531C>A)
c.1076C>A (p.Pro359Gln)
c.233C>A (p.Pro78Gln)
n.515C>A
c.983C>A (p.Pro328Gln)
c.1211C>A (p.Pro404Gln)
c.1118C>A (p.Pro373Gln)
Xg.19359556C>GCA412396684PDHA1c.1097C>G (p.Pro366Arg)
c.*768C>G (n.*768C>G)
c.1160C>G (p.Pro387Arg)
c.1190C>G (p.Pro397Arg)
n.871C>G
c.*408C>G (n.*408C>G)
c.*531C>G (n.*531C>G)
c.1076C>G (p.Pro359Arg)
c.233C>G (p.Pro78Arg)
n.515C>G
c.983C>G (p.Pro328Arg)
c.1211C>G (p.Pro404Arg)
c.1118C>G (p.Pro373Arg)
Xg.19359556C>TCA412396681PDHA1c.1097C>T (p.Pro366Leu)
c.*768C>T (n.*768C>T)
c.1160C>T (p.Pro387Leu)
c.1190C>T (p.Pro397Leu)
n.871C>T
c.*408C>T (n.*408C>T)
c.*531C>T (n.*531C>T)
c.1076C>T (p.Pro359Leu)
c.233C>T (p.Pro78Leu)
n.515C>T
c.983C>T (p.Pro328Leu)
c.1211C>T (p.Pro404Leu)
c.1118C>T (p.Pro373Leu)
Xg.19359556_19359576delinsCACCTTTGGAAGAGCTGGGCTCA2418225589PDHA1c.1097_1117delinsCACCTTTGGAAGAGCTGGGCT (p.Pro366=)
c.*768_*788delinsCACCTTTGGAAGAGCTGGGCT (n.*768_*788delinsCACCTTTGGAAGAGCTGGGCT)
c.1160_1180delinsCACCTTTGGAAGAGCTGGGCT (p.Pro387=)
c.1190_1210delinsCACCTTTGGAAGAGCTGGGCT (p.Pro397=)
n.871_891delinsCACCTTTGGAAGAGCTGGGCT
c.*408_*428delinsCACCTTTGGAAGAGCTGGGCT (n.*408_*428delinsCACCTTTGGAAGAGCTGGGCT)
c.*531_*551delinsCACCTTTGGAAGAGCTGGGCT (n.*531_*551delinsCACCTTTGGAAGAGCTGGGCT)
c.1076_1096delinsCACCTTTGGAAGAGCTGGGCT (p.Pro359=)
c.233_253delinsCACCTTTGGAAGAGCTGGGCT (p.Pro78=)
n.515_535delinsCACCTTTGGAAGAGCTGGGCT
c.983_1003delinsCACCTTTGGAAGAGCTGGGCT (p.Pro328=)
c.1211_1231delinsCACCTTTGGAAGAGCTGGGCT (p.Pro404=)
c.1118_1138delinsCACCTTTGGAAGAGCTGGGCT (p.Pro373=)
Xg.19359557A>CCA515486439PDHA1c.1098A>C (p.Pro366=)
c.*769A>C (n.*769A>C)
c.1161A>C (p.Pro387=)
c.1191A>C (p.Pro397=)
n.872A>C
c.*409A>C (n.*409A>C)
c.*532A>C (n.*532A>C)
c.1077A>C (p.Pro359=)
c.234A>C (p.Pro78=)
n.516A>C
c.984A>C (p.Pro328=)
c.1212A>C (p.Pro404=)
c.1119A>C (p.Pro373=)
Xg.19359557A>GCA515486440PDHA1c.1098A>G (p.Pro366=)
c.*769A>G (n.*769A>G)
c.1161A>G (p.Pro387=)
c.1191A>G (p.Pro397=)
n.872A>G
c.*409A>G (n.*409A>G)
c.*532A>G (n.*532A>G)
c.1077A>G (p.Pro359=)
c.234A>G (p.Pro78=)
n.516A>G
c.984A>G (p.Pro328=)
c.1212A>G (p.Pro404=)
c.1119A>G (p.Pro373=)
 gnomAD v4
Xg.19359557A>TCA515486441PDHA1c.1098A>T (p.Pro366=)
c.*769A>T (n.*769A>T)
c.1161A>T (p.Pro387=)
c.1191A>T (p.Pro397=)
n.872A>T
c.*409A>T (n.*409A>T)
c.*532A>T (n.*532A>T)
c.1077A>T (p.Pro359=)
c.234A>T (p.Pro78=)
n.516A>T
c.984A>T (p.Pro328=)
c.1212A>T (p.Pro404=)
c.1119A>T (p.Pro373=)
Xg.19359560_19359579delCA1139667332PDHA1c.1101_1120del (p.Leu368HisfsTer9)
c.*772_*791del (n.*772_*791del)
c.1164_1183del (p.Leu389HisfsTer9)
c.1194_1213del (p.Leu399HisfsTer9)
n.875_894del
c.*412_*431del (n.*412_*431del)
c.*535_*554del (n.*535_*554del)
c.1080_1099del (p.Leu361HisfsTer9)
c.237_256del (p.Leu80HisfsTer9)
n.519_538del
c.987_1006del (p.Leu330HisfsTer9)
c.1215_1234del (p.Leu406HisfsTer9)
c.1122_1141del (p.Leu375HisfsTer9)
 ClinVar dbSNP
Xg.19359558C>ACA412396689PDHA1c.1099C>A (p.Pro367Thr)
c.*770C>A (n.*770C>A)
c.1162C>A (p.Pro388Thr)
c.1192C>A (p.Pro398Thr)
n.873C>A
c.*410C>A (n.*410C>A)
c.*533C>A (n.*533C>A)
c.1078C>A (p.Pro360Thr)
c.235C>A (p.Pro79Thr)
n.517C>A
c.985C>A (p.Pro329Thr)
c.1213C>A (p.Pro405Thr)
c.1120C>A (p.Pro374Thr)
Xg.19359558C>GCA412396694PDHA1c.1099C>G (p.Pro367Ala)
c.*770C>G (n.*770C>G)
c.1162C>G (p.Pro388Ala)
c.1192C>G (p.Pro398Ala)
n.873C>G
c.*410C>G (n.*410C>G)
c.*533C>G (n.*533C>G)
c.1078C>G (p.Pro360Ala)
c.235C>G (p.Pro79Ala)
n.517C>G
c.985C>G (p.Pro329Ala)
c.1213C>G (p.Pro405Ala)
c.1120C>G (p.Pro374Ala)
Xg.19359558C>TCA412396692PDHA1c.1099C>T (p.Pro367Ser)
c.*770C>T (n.*770C>T)
c.1162C>T (p.Pro388Ser)
c.1192C>T (p.Pro398Ser)
n.873C>T
c.*410C>T (n.*410C>T)
c.*533C>T (n.*533C>T)
c.1078C>T (p.Pro360Ser)
c.235C>T (p.Pro79Ser)
n.517C>T
c.985C>T (p.Pro329Ser)
c.1213C>T (p.Pro405Ser)
c.1120C>T (p.Pro374Ser)
Xg.19359559C>ACA412396697PDHA1c.1100C>A (p.Pro367His)
c.*771C>A (n.*771C>A)
c.1163C>A (p.Pro388His)
c.1193C>A (p.Pro398His)
n.874C>A
c.*411C>A (n.*411C>A)
c.*534C>A (n.*534C>A)
c.1079C>A (p.Pro360His)
c.236C>A (p.Pro79His)
n.518C>A
c.986C>A (p.Pro329His)
c.1214C>A (p.Pro405His)
c.1121C>A (p.Pro374His)
Xg.19359559C>GCA412396700PDHA1c.1100C>G (p.Pro367Arg)
c.*771C>G (n.*771C>G)
c.1163C>G (p.Pro388Arg)
c.1193C>G (p.Pro398Arg)
n.874C>G
c.*411C>G (n.*411C>G)
c.*534C>G (n.*534C>G)
c.1079C>G (p.Pro360Arg)
c.236C>G (p.Pro79Arg)
n.518C>G
c.986C>G (p.Pro329Arg)
c.1214C>G (p.Pro405Arg)
c.1121C>G (p.Pro374Arg)
Xg.19359559C>TCA412396704PDHA1c.1100C>T (p.Pro367Leu)
c.*771C>T (n.*771C>T)
c.1163C>T (p.Pro388Leu)
c.1193C>T (p.Pro398Leu)
n.874C>T
c.*411C>T (n.*411C>T)
c.*534C>T (n.*534C>T)
c.1079C>T (p.Pro360Leu)
c.236C>T (p.Pro79Leu)
n.518C>T
c.986C>T (p.Pro329Leu)
c.1214C>T (p.Pro405Leu)
c.1121C>T (p.Pro374Leu)
Xg.19359560T>ACA515486442PDHA1c.1101T>A (p.Pro367=)
c.*772T>A (n.*772T>A)
c.1164T>A (p.Pro388=)
c.1194T>A (p.Pro398=)
n.875T>A
c.*412T>A (n.*412T>A)
c.*535T>A (n.*535T>A)
c.1080T>A (p.Pro360=)
c.237T>A (p.Pro79=)
n.519T>A
c.987T>A (p.Pro329=)
c.1215T>A (p.Pro405=)
c.1122T>A (p.Pro374=)
Xg.19359560T>CCA515486443PDHA1c.1101T>C (p.Pro367=)
c.*772T>C (n.*772T>C)
c.1164T>C (p.Pro388=)
c.1194T>C (p.Pro398=)
n.875T>C
c.*412T>C (n.*412T>C)
c.*535T>C (n.*535T>C)
c.1080T>C (p.Pro360=)
c.237T>C (p.Pro79=)
n.519T>C
c.987T>C (p.Pro329=)
c.1215T>C (p.Pro405=)
c.1122T>C (p.Pro374=)
Xg.19359560T>GCA515486444PDHA1c.1101T>G (p.Pro367=)
c.*772T>G (n.*772T>G)
c.1164T>G (p.Pro388=)
c.1194T>G (p.Pro398=)
n.875T>G
c.*412T>G (n.*412T>G)
c.*535T>G (n.*535T>G)
c.1080T>G (p.Pro360=)
c.237T>G (p.Pro79=)
n.519T>G
c.987T>G (p.Pro329=)
c.1215T>G (p.Pro405=)
c.1122T>G (p.Pro374=)
Xg.19359561T>ACA412396713PDHA1c.1102T>A (p.Leu368Met)
c.*773T>A (n.*773T>A)
c.1165T>A (p.Leu389Met)
c.1195T>A (p.Leu399Met)
n.876T>A
c.*413T>A (n.*413T>A)
c.*536T>A (n.*536T>A)
c.1081T>A (p.Leu361Met)
c.238T>A (p.Leu80Met)
n.520T>A
c.988T>A (p.Leu330Met)
c.1216T>A (p.Leu406Met)
c.1123T>A (p.Leu375Met)
Xg.19359561T>CCA515486445PDHA1c.1102T>C (p.Leu368=)
c.*773T>C (n.*773T>C)
c.1165T>C (p.Leu389=)
c.1195T>C (p.Leu399=)
n.876T>C
c.*413T>C (n.*413T>C)
c.*536T>C (n.*536T>C)
c.1081T>C (p.Leu361=)
c.238T>C (p.Leu80=)
n.520T>C
c.988T>C (p.Leu330=)
c.1216T>C (p.Leu406=)
c.1123T>C (p.Leu375=)
Xg.19359561T>GCA412396714PDHA1c.1102T>G (p.Leu368Val)
c.*773T>G (n.*773T>G)
c.1165T>G (p.Leu389Val)
c.1195T>G (p.Leu399Val)
n.876T>G
c.*413T>G (n.*413T>G)
c.*536T>G (n.*536T>G)
c.1081T>G (p.Leu361Val)
c.238T>G (p.Leu80Val)
n.520T>G
c.988T>G (p.Leu330Val)
c.1216T>G (p.Leu406Val)
c.1123T>G (p.Leu375Val)
Xg.19359562T>ACA412396719PDHA1c.1103T>A (p.Leu368Ter)
c.*774T>A (n.*774T>A)
c.1166T>A (p.Leu389Ter)
c.1196T>A (p.Leu399Ter)
n.877T>A
c.*414T>A (n.*414T>A)
c.*537T>A (n.*537T>A)
c.1082T>A (p.Leu361Ter)
c.239T>A (p.Leu80Ter)
n.521T>A
c.989T>A (p.Leu330Ter)
c.1217T>A (p.Leu406Ter)
c.1124T>A (p.Leu375Ter)
Xg.19359562T>CCA412396721PDHA1c.1103T>C (p.Leu368Ser)
c.*774T>C (n.*774T>C)
c.1166T>C (p.Leu389Ser)
c.1196T>C (p.Leu399Ser)
n.877T>C
c.*414T>C (n.*414T>C)
c.*537T>C (n.*537T>C)
c.1082T>C (p.Leu361Ser)
c.239T>C (p.Leu80Ser)
n.521T>C
c.989T>C (p.Leu330Ser)
c.1217T>C (p.Leu406Ser)
c.1124T>C (p.Leu375Ser)
Xg.19359562T>GCA412396722PDHA1c.1103T>G (p.Leu368Trp)
c.*774T>G (n.*774T>G)
c.1166T>G (p.Leu389Trp)
c.1196T>G (p.Leu399Trp)
n.877T>G
c.*414T>G (n.*414T>G)
c.*537T>G (n.*537T>G)
c.1082T>G (p.Leu361Trp)
c.239T>G (p.Leu80Trp)
n.521T>G
c.989T>G (p.Leu330Trp)
c.1217T>G (p.Leu406Trp)
c.1124T>G (p.Leu375Trp)
Xg.19359563G>ACA10363210PDHA1c.1104G>A (p.Leu368=)
c.*775G>A (n.*775G>A)
c.1167G>A (p.Leu389=)
c.1197G>A (p.Leu399=)
n.878G>A
c.*415G>A (n.*415G>A)
c.*538G>A (n.*538G>A)
c.1083G>A (p.Leu361=)
c.240G>A (p.Leu80=)
n.522G>A
c.990G>A (p.Leu330=)
c.1218G>A (p.Leu406=)
c.1125G>A (p.Leu375=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19359563G>CCA412396728PDHA1c.1104G>C (p.Leu368Phe)
c.*775G>C (n.*775G>C)
c.1167G>C (p.Leu389Phe)
c.1197G>C (p.Leu399Phe)
n.878G>C
c.*415G>C (n.*415G>C)
c.*538G>C (n.*538G>C)
c.1083G>C (p.Leu361Phe)
c.240G>C (p.Leu80Phe)
n.522G>C
c.990G>C (p.Leu330Phe)
c.1218G>C (p.Leu406Phe)
c.1125G>C (p.Leu375Phe)
Xg.19359563G=CA2418225590PDHA1c.1104G= (p.Leu368=)
c.*775G= (n.*775G=)
c.1167G= (p.Leu389=)
c.1197G= (p.Leu399=)
n.878G=
c.*415G= (n.*415G=)
c.*538G= (n.*538G=)
c.1083G= (p.Leu361=)
c.240G= (p.Leu80=)
n.522G=
c.990G= (p.Leu330=)
c.1218G= (p.Leu406=)
c.1125G= (p.Leu375=)
Xg.19359563G>TCA412396732PDHA1c.1104G>T (p.Leu368Phe)
c.*775G>T (n.*775G>T)
c.1167G>T (p.Leu389Phe)
c.1197G>T (p.Leu399Phe)
n.878G>T
c.*415G>T (n.*415G>T)
c.*538G>T (n.*538G>T)
c.1083G>T (p.Leu361Phe)
c.240G>T (p.Leu80Phe)
n.522G>T
c.990G>T (p.Leu330Phe)
c.1218G>T (p.Leu406Phe)
c.1125G>T (p.Leu375Phe)
Xg.19359563_19359582dupCA2695231671PDHA1c.1104_1123dup (p.Ile375ArgfsTer?)
c.*775_*794dup (n.*775_*794dup)
c.1167_1186dup (p.Ile396ArgfsTer?)
c.1197_1216dup (p.Ile406ArgfsTer?)
n.878_897dup
c.*415_*434dup (n.*415_*434dup)
c.*538_*557dup (n.*538_*557dup)
c.1083_1102dup (p.Ile368ArgfsTer?)
c.240_259dup (p.Ile87ArgfsTer?)
n.522_541dup
c.990_1009dup (p.Ile337ArgfsTer?)
c.1218_1237dup (p.Ile413ArgfsTer?)
c.1125_1144dup (p.Ile382ArgfsTer?)
Xg.19359564G>ACA412396741PDHA1c.1105G>A (p.Glu369Lys)
c.*776G>A (n.*776G>A)
c.1168G>A (p.Glu390Lys)
c.1198G>A (p.Glu400Lys)
n.879G>A
c.*416G>A (n.*416G>A)
c.*539G>A (n.*539G>A)
c.1084G>A (p.Glu362Lys)
c.241G>A (p.Glu81Lys)
n.523G>A
c.991G>A (p.Glu331Lys)
c.1219G>A (p.Glu407Lys)
c.1126G>A (p.Glu376Lys)
Xg.19359564G>CCA412396735PDHA1c.1105G>C (p.Glu369Gln)
c.*776G>C (n.*776G>C)
c.1168G>C (p.Glu390Gln)
c.1198G>C (p.Glu400Gln)
n.879G>C
c.*416G>C (n.*416G>C)
c.*539G>C (n.*539G>C)
c.1084G>C (p.Glu362Gln)
c.241G>C (p.Glu81Gln)
n.523G>C
c.991G>C (p.Glu331Gln)
c.1219G>C (p.Glu407Gln)
c.1126G>C (p.Glu376Gln)
 dbSNP gnomAD v2 gnomAD v4
Xg.19359564G=CA2418225591PDHA1c.1105G= (p.Glu369=)
c.*776G= (n.*776G=)
c.1168G= (p.Glu390=)
c.1198G= (p.Glu400=)
n.879G=
c.*416G= (n.*416G=)
c.*539G= (n.*539G=)
c.1084G= (p.Glu362=)
c.241G= (p.Glu81=)
n.523G=
c.991G= (p.Glu331=)
c.1219G= (p.Glu407=)
c.1126G= (p.Glu376=)
Xg.19359564G>TCA412396738PDHA1c.1105G>T (p.Glu369Ter)
c.*776G>T (n.*776G>T)
c.1168G>T (p.Glu390Ter)
c.1198G>T (p.Glu400Ter)
n.879G>T
c.*416G>T (n.*416G>T)
c.*539G>T (n.*539G>T)
c.1084G>T (p.Glu362Ter)
c.241G>T (p.Glu81Ter)
n.523G>T
c.991G>T (p.Glu331Ter)
c.1219G>T (p.Glu407Ter)
c.1126G>T (p.Glu376Ter)
Xg.19359565A>CCA412396746PDHA1c.1106A>C (p.Glu369Ala)
c.*777A>C (n.*777A>C)
c.1169A>C (p.Glu390Ala)
c.1199A>C (p.Glu400Ala)
n.880A>C
c.*417A>C (n.*417A>C)
c.*540A>C (n.*540A>C)
c.1085A>C (p.Glu362Ala)
c.242A>C (p.Glu81Ala)
n.524A>C
c.992A>C (p.Glu331Ala)
c.1220A>C (p.Glu407Ala)
c.1127A>C (p.Glu376Ala)
Xg.19359565A>GCA412396748PDHA1c.1106A>G (p.Glu369Gly)
c.*777A>G (n.*777A>G)
c.1169A>G (p.Glu390Gly)
c.1199A>G (p.Glu400Gly)
n.880A>G
c.*417A>G (n.*417A>G)
c.*540A>G (n.*540A>G)
c.1085A>G (p.Glu362Gly)
c.242A>G (p.Glu81Gly)
n.524A>G
c.992A>G (p.Glu331Gly)
c.1220A>G (p.Glu407Gly)
c.1127A>G (p.Glu376Gly)
Xg.19359565A>TCA412396752PDHA1c.1106A>T (p.Glu369Val)
c.*777A>T (n.*777A>T)
c.1169A>T (p.Glu390Val)
c.1199A>T (p.Glu400Val)
n.880A>T
c.*417A>T (n.*417A>T)
c.*540A>T (n.*540A>T)
c.1085A>T (p.Glu362Val)
c.242A>T (p.Glu81Val)
n.524A>T
c.992A>T (p.Glu331Val)
c.1220A>T (p.Glu407Val)
c.1127A>T (p.Glu376Val)
Xg.19359566A>CCA412396753PDHA1c.1107A>C (p.Glu369Asp)
c.*778A>C (n.*778A>C)
c.1170A>C (p.Glu390Asp)
c.1200A>C (p.Glu400Asp)
n.881A>C
c.*418A>C (n.*418A>C)
c.*541A>C (n.*541A>C)
c.1086A>C (p.Glu362Asp)
c.243A>C (p.Glu81Asp)
n.525A>C
c.993A>C (p.Glu331Asp)
c.1221A>C (p.Glu407Asp)
c.1128A>C (p.Glu376Asp)
Xg.19359566A>GCA515486446PDHA1c.1107A>G (p.Glu369=)
c.*778A>G (n.*778A>G)
c.1170A>G (p.Glu390=)
c.1200A>G (p.Glu400=)
n.881A>G
c.*418A>G (n.*418A>G)
c.*541A>G (n.*541A>G)
c.1086A>G (p.Glu362=)
c.243A>G (p.Glu81=)
n.525A>G
c.993A>G (p.Glu331=)
c.1221A>G (p.Glu407=)
c.1128A>G (p.Glu376=)
Xg.19359566A>TCA412396756PDHA1c.1107A>T (p.Glu369Asp)
c.*778A>T (n.*778A>T)
c.1170A>T (p.Glu390Asp)
c.1200A>T (p.Glu400Asp)
n.881A>T
c.*418A>T (n.*418A>T)
c.*541A>T (n.*541A>T)
c.1086A>T (p.Glu362Asp)
c.243A>T (p.Glu81Asp)
n.525A>T
c.993A>T (p.Glu331Asp)
c.1221A>T (p.Glu407Asp)
c.1128A>T (p.Glu376Asp)
Xg.19359567G>ACA412396760PDHA1c.1108G>A (p.Glu370Lys)
c.*779G>A (n.*779G>A)
c.1171G>A (p.Glu391Lys)
c.1201G>A (p.Glu401Lys)
n.882G>A
c.*419G>A (n.*419G>A)
c.*542G>A (n.*542G>A)
c.1087G>A (p.Glu363Lys)
c.244G>A (p.Glu82Lys)
n.526G>A
c.994G>A (p.Glu332Lys)
c.1222G>A (p.Glu408Lys)
c.1129G>A (p.Glu377Lys)
Xg.19359567G>CCA412396762PDHA1c.1108G>C (p.Glu370Gln)
c.*779G>C (n.*779G>C)
c.1171G>C (p.Glu391Gln)
c.1201G>C (p.Glu401Gln)
n.882G>C
c.*419G>C (n.*419G>C)
c.*542G>C (n.*542G>C)
c.1087G>C (p.Glu363Gln)
c.244G>C (p.Glu82Gln)
n.526G>C
c.994G>C (p.Glu332Gln)
c.1222G>C (p.Glu408Gln)
c.1129G>C (p.Glu377Gln)
Xg.19359567G>TCA412396765PDHA1c.1108G>T (p.Glu370Ter)
c.*779G>T (n.*779G>T)
c.1171G>T (p.Glu391Ter)
c.1201G>T (p.Glu401Ter)
n.882G>T
c.*419G>T (n.*419G>T)
c.*542G>T (n.*542G>T)
c.1087G>T (p.Glu363Ter)
c.244G>T (p.Glu82Ter)
n.526G>T
c.994G>T (p.Glu332Ter)
c.1222G>T (p.Glu408Ter)
c.1129G>T (p.Glu377Ter)
Xg.19359568A>CCA412396769PDHA1c.1109A>C (p.Glu370Ala)
c.*780A>C (n.*780A>C)
c.1172A>C (p.Glu391Ala)
c.1202A>C (p.Glu401Ala)
n.883A>C
c.*420A>C (n.*420A>C)
c.*543A>C (n.*543A>C)
c.1088A>C (p.Glu363Ala)
c.245A>C (p.Glu82Ala)
n.527A>C
c.995A>C (p.Glu332Ala)
c.1223A>C (p.Glu408Ala)
c.1130A>C (p.Glu377Ala)
Xg.19359568A>GCA412396773PDHA1c.1109A>G (p.Glu370Gly)
c.*780A>G (n.*780A>G)
c.1172A>G (p.Glu391Gly)
c.1202A>G (p.Glu401Gly)
n.883A>G
c.*420A>G (n.*420A>G)
c.*543A>G (n.*543A>G)
c.1088A>G (p.Glu363Gly)
c.245A>G (p.Glu82Gly)
n.527A>G
c.995A>G (p.Glu332Gly)
c.1223A>G (p.Glu408Gly)
c.1130A>G (p.Glu377Gly)
Xg.19359568A>TCA412396776PDHA1c.1109A>T (p.Glu370Val)
c.*780A>T (n.*780A>T)
c.1172A>T (p.Glu391Val)
c.1202A>T (p.Glu401Val)
n.883A>T
c.*420A>T (n.*420A>T)
c.*543A>T (n.*543A>T)
c.1088A>T (p.Glu363Val)
c.245A>T (p.Glu82Val)
n.527A>T
c.995A>T (p.Glu332Val)
c.1223A>T (p.Glu408Val)
c.1130A>T (p.Glu377Val)
Xg.19359569G>ACA515486447PDHA1c.1110G>A (p.Glu370=)
c.*781G>A (n.*781G>A)
c.1173G>A (p.Glu391=)
c.1203G>A (p.Glu401=)
n.884G>A
c.*421G>A (n.*421G>A)
c.*544G>A (n.*544G>A)
c.1089G>A (p.Glu363=)
c.246G>A (p.Glu82=)
n.528G>A
c.996G>A (p.Glu332=)
c.1224G>A (p.Glu408=)
c.1131G>A (p.Glu377=)
Xg.19359569G>CCA412396783PDHA1c.1110G>C (p.Glu370Asp)
c.*781G>C (n.*781G>C)
c.1173G>C (p.Glu391Asp)
c.1203G>C (p.Glu401Asp)
n.884G>C
c.*421G>C (n.*421G>C)
c.*544G>C (n.*544G>C)
c.1089G>C (p.Glu363Asp)
c.246G>C (p.Glu82Asp)
n.528G>C
c.996G>C (p.Glu332Asp)
c.1224G>C (p.Glu408Asp)
c.1131G>C (p.Glu377Asp)
 dbSNP gnomAD v2
Xg.19359569G=CA2418225592PDHA1c.1110G= (p.Glu370=)
c.*781G= (n.*781G=)
c.1173G= (p.Glu391=)
c.1203G= (p.Glu401=)
n.884G=
c.*421G= (n.*421G=)
c.*544G= (n.*544G=)
c.1089G= (p.Glu363=)
c.246G= (p.Glu82=)
n.528G=
c.996G= (p.Glu332=)
c.1224G= (p.Glu408=)
c.1131G= (p.Glu377=)
Xg.19359569G>TCA412396780PDHA1c.1110G>T (p.Glu370Asp)
c.*781G>T (n.*781G>T)
c.1173G>T (p.Glu391Asp)
c.1203G>T (p.Glu401Asp)
n.884G>T
c.*421G>T (n.*421G>T)
c.*544G>T (n.*544G>T)
c.1089G>T (p.Glu363Asp)
c.246G>T (p.Glu82Asp)
n.528G>T
c.996G>T (p.Glu332Asp)
c.1224G>T (p.Glu408Asp)
c.1131G>T (p.Glu377Asp)
Xg.19359570C>ACA412396786PDHA1c.1111C>A (p.Leu371Met)
c.*782C>A (n.*782C>A)
c.1174C>A (p.Leu392Met)
c.1204C>A (p.Leu402Met)
n.885C>A
c.*422C>A (n.*422C>A)
c.*545C>A (n.*545C>A)
c.1090C>A (p.Leu364Met)
c.247C>A (p.Leu83Met)
n.529C>A
c.997C>A (p.Leu333Met)
c.1225C>A (p.Leu409Met)
c.1132C>A (p.Leu378Met)
Xg.19359570C>GCA412396800PDHA1c.1111C>G (p.Leu371Val)
c.*782C>G (n.*782C>G)
c.1174C>G (p.Leu392Val)
c.1204C>G (p.Leu402Val)
n.885C>G
c.*422C>G (n.*422C>G)
c.*545C>G (n.*545C>G)
c.1090C>G (p.Leu364Val)
c.247C>G (p.Leu83Val)
n.529C>G
c.997C>G (p.Leu333Val)
c.1225C>G (p.Leu409Val)
c.1132C>G (p.Leu378Val)
Xg.19359570C>TCA515486448PDHA1c.1111C>T (p.Leu371=)
c.*782C>T (n.*782C>T)
c.1174C>T (p.Leu392=)
c.1204C>T (p.Leu402=)
n.885C>T
c.*422C>T (n.*422C>T)
c.*545C>T (n.*545C>T)
c.1090C>T (p.Leu364=)
c.247C>T (p.Leu83=)
n.529C>T
c.997C>T (p.Leu333=)
c.1225C>T (p.Leu409=)
c.1132C>T (p.Leu378=)
Xg.19359571T>ACA412396804PDHA1c.1112T>A (p.Leu371Gln)
c.*783T>A (n.*783T>A)
c.1175T>A (p.Leu392Gln)
c.1205T>A (p.Leu402Gln)
n.886T>A
c.*423T>A (n.*423T>A)
c.*546T>A (n.*546T>A)
c.1091T>A (p.Leu364Gln)
c.248T>A (p.Leu83Gln)
n.530T>A
c.998T>A (p.Leu333Gln)
c.1226T>A (p.Leu409Gln)
c.1133T>A (p.Leu378Gln)
Xg.19359571T>CCA412396807PDHA1c.1112T>C (p.Leu371Pro)
c.*783T>C (n.*783T>C)
c.1175T>C (p.Leu392Pro)
c.1205T>C (p.Leu402Pro)
n.886T>C
c.*423T>C (n.*423T>C)
c.*546T>C (n.*546T>C)
c.1091T>C (p.Leu364Pro)
c.248T>C (p.Leu83Pro)
n.530T>C
c.998T>C (p.Leu333Pro)
c.1226T>C (p.Leu409Pro)
c.1133T>C (p.Leu378Pro)
Xg.19359571T>GCA412396809PDHA1c.1112T>G (p.Leu371Arg)
c.*783T>G (n.*783T>G)
c.1175T>G (p.Leu392Arg)
c.1205T>G (p.Leu402Arg)
n.886T>G
c.*423T>G (n.*423T>G)
c.*546T>G (n.*546T>G)
c.1091T>G (p.Leu364Arg)
c.248T>G (p.Leu83Arg)
n.530T>G
c.998T>G (p.Leu333Arg)
c.1226T>G (p.Leu409Arg)
c.1133T>G (p.Leu378Arg)
 ClinVar
Xg.19359572G>ACA515486451PDHA1c.1113G>A (p.Leu371=)
c.*784G>A (n.*784G>A)
c.1176G>A (p.Leu392=)
c.1206G>A (p.Leu402=)
n.887G>A
c.*424G>A (n.*424G>A)
c.*547G>A (n.*547G>A)
c.1092G>A (p.Leu364=)
c.249G>A (p.Leu83=)
n.531G>A
c.999G>A (p.Leu333=)
c.1227G>A (p.Leu409=)
c.1134G>A (p.Leu378=)
 dbSNP gnomAD v2 gnomAD v4
Xg.19359572G>CCA515486449PDHA1c.1113G>C (p.Leu371=)
c.*784G>C (n.*784G>C)
c.1176G>C (p.Leu392=)
c.1206G>C (p.Leu402=)
n.887G>C
c.*424G>C (n.*424G>C)
c.*547G>C (n.*547G>C)
c.1092G>C (p.Leu364=)
c.249G>C (p.Leu83=)
n.531G>C
c.999G>C (p.Leu333=)
c.1227G>C (p.Leu409=)
c.1134G>C (p.Leu378=)
Xg.19359572G=CA2418225593PDHA1c.1113G= (p.Leu371=)
c.*784G= (n.*784G=)
c.1176G= (p.Leu392=)
c.1206G= (p.Leu402=)
n.887G=
c.*424G= (n.*424G=)
c.*547G= (n.*547G=)
c.1092G= (p.Leu364=)
c.249G= (p.Leu83=)
n.531G=
c.999G= (p.Leu333=)
c.1227G= (p.Leu409=)
c.1134G= (p.Leu378=)
Xg.19359572G>TCA515486450PDHA1c.1113G>T (p.Leu371=)
c.*784G>T (n.*784G>T)
c.1176G>T (p.Leu392=)
c.1206G>T (p.Leu402=)
n.887G>T
c.*424G>T (n.*424G>T)
c.*547G>T (n.*547G>T)
c.1092G>T (p.Leu364=)
c.249G>T (p.Leu83=)
n.531G>T
c.999G>T (p.Leu333=)
c.1227G>T (p.Leu409=)
c.1134G>T (p.Leu378=)
Xg.19359572_19359573insAAGAGCTGGCA2695231672PDHA1c.1113_1114insAAGAGCTGG (p.Leu371_Gly372insLysSerTrp)
c.*784_*785insAAGAGCTGG (n.*784_*785insAAGAGCTGG)
c.1176_1177insAAGAGCTGG (p.Leu392_Gly393insLysSerTrp)
c.1206_1207insAAGAGCTGG (p.Leu402_Gly403insLysSerTrp)
n.887_888insAAGAGCTGG
c.*424_*425insAAGAGCTGG (n.*424_*425insAAGAGCTGG)
c.*547_*548insAAGAGCTGG (n.*547_*548insAAGAGCTGG)
c.1092_1093insAAGAGCTGG (p.Leu364_Gly365insLysSerTrp)
c.249_250insAAGAGCTGG (p.Leu83_Gly84insLysSerTrp)
n.531_532insAAGAGCTGG
c.999_1000insAAGAGCTGG (p.Leu333_Gly334insLysSerTrp)
c.1227_1228insAAGAGCTGG (p.Leu409_Gly410insLysSerTrp)
c.1134_1135insAAGAGCTGG (p.Leu378_Gly379insLysSerTrp)
Xg.19359573G>ACA412396823PDHA1c.1114G>A (p.Gly372Ser)
c.*785G>A (n.*785G>A)
c.1177G>A (p.Gly393Ser)
c.1207G>A (p.Gly403Ser)
n.888G>A
c.*425G>A (n.*425G>A)
c.*548G>A (n.*548G>A)
c.1093G>A (p.Gly365Ser)
c.250G>A (p.Gly84Ser)
n.532G>A
c.1000G>A (p.Gly334Ser)
c.1228G>A (p.Gly410Ser)
c.1135G>A (p.Gly379Ser)
Xg.19359573G>CCA412396819PDHA1c.1114G>C (p.Gly372Arg)
c.*785G>C (n.*785G>C)
c.1177G>C (p.Gly393Arg)
c.1207G>C (p.Gly403Arg)
n.888G>C
c.*425G>C (n.*425G>C)
c.*548G>C (n.*548G>C)
c.1093G>C (p.Gly365Arg)
c.250G>C (p.Gly84Arg)
n.532G>C
c.1000G>C (p.Gly334Arg)
c.1228G>C (p.Gly410Arg)
c.1135G>C (p.Gly379Arg)
Xg.19359573G>TCA412396815PDHA1c.1114G>T (p.Gly372Cys)
c.*785G>T (n.*785G>T)
c.1177G>T (p.Gly393Cys)
c.1207G>T (p.Gly403Cys)
n.888G>T
c.*425G>T (n.*425G>T)
c.*548G>T (n.*548G>T)
c.1093G>T (p.Gly365Cys)
c.250G>T (p.Gly84Cys)
n.532G>T
c.1000G>T (p.Gly334Cys)
c.1228G>T (p.Gly410Cys)
c.1135G>T (p.Gly379Cys)
Xg.19359574G>ACA412396827PDHA1c.1115G>A (p.Gly372Asp)
c.*786G>A (n.*786G>A)
c.1178G>A (p.Gly393Asp)
c.1208G>A (p.Gly403Asp)
n.889G>A
c.*426G>A (n.*426G>A)
c.*549G>A (n.*549G>A)
c.1094G>A (p.Gly365Asp)
c.251G>A (p.Gly84Asp)
n.533G>A
c.1001G>A (p.Gly334Asp)
c.1229G>A (p.Gly410Asp)
c.1136G>A (p.Gly379Asp)
Xg.19359574G>CCA412396830PDHA1c.1115G>C (p.Gly372Ala)
c.*786G>C (n.*786G>C)
c.1178G>C (p.Gly393Ala)
c.1208G>C (p.Gly403Ala)
n.889G>C
c.*426G>C (n.*426G>C)
c.*549G>C (n.*549G>C)
c.1094G>C (p.Gly365Ala)
c.251G>C (p.Gly84Ala)
n.533G>C
c.1001G>C (p.Gly334Ala)
c.1229G>C (p.Gly410Ala)
c.1136G>C (p.Gly379Ala)
 gnomAD v4
Xg.19359574G>TCA412396831PDHA1c.1115G>T (p.Gly372Val)
c.*786G>T (n.*786G>T)
c.1178G>T (p.Gly393Val)
c.1208G>T (p.Gly403Val)
n.889G>T
c.*426G>T (n.*426G>T)
c.*549G>T (n.*549G>T)
c.1094G>T (p.Gly365Val)
c.251G>T (p.Gly84Val)
n.533G>T
c.1001G>T (p.Gly334Val)
c.1229G>T (p.Gly410Val)
c.1136G>T (p.Gly379Val)
Xg.19359575C>ACA515486452PDHA1c.1116C>A (p.Gly372=)
c.*787C>A (n.*787C>A)
c.1179C>A (p.Gly393=)
c.1209C>A (p.Gly403=)
n.890C>A
c.*427C>A (n.*427C>A)
c.*550C>A (n.*550C>A)
c.1095C>A (p.Gly365=)
c.252C>A (p.Gly84=)
n.534C>A
c.1002C>A (p.Gly334=)
c.1230C>A (p.Gly410=)
c.1137C>A (p.Gly379=)
Xg.19359575C>GCA515486453PDHA1c.1116C>G (p.Gly372=)
c.*787C>G (n.*787C>G)
c.1179C>G (p.Gly393=)
c.1209C>G (p.Gly403=)
n.890C>G
c.*427C>G (n.*427C>G)
c.*550C>G (n.*550C>G)
c.1095C>G (p.Gly365=)
c.252C>G (p.Gly84=)
n.534C>G
c.1002C>G (p.Gly334=)
c.1230C>G (p.Gly410=)
c.1137C>G (p.Gly379=)
Xg.19359575C>TCA515486454PDHA1c.1116C>T (p.Gly372=)
c.*787C>T (n.*787C>T)
c.1179C>T (p.Gly393=)
c.1209C>T (p.Gly403=)
n.890C>T
c.*427C>T (n.*427C>T)
c.*550C>T (n.*550C>T)
c.1095C>T (p.Gly365=)
c.252C>T (p.Gly84=)
n.534C>T
c.1002C>T (p.Gly334=)
c.1230C>T (p.Gly410=)
c.1137C>T (p.Gly379=)
Xg.19359576T>ACA412396832PDHA1c.1117T>A (p.Tyr373Asn)
c.*788T>A (n.*788T>A)
c.1180T>A (p.Tyr394Asn)
c.1210T>A (p.Tyr404Asn)
n.891T>A
c.*428T>A (n.*428T>A)
c.*551T>A (n.*551T>A)
c.1096T>A (p.Tyr366Asn)
c.253T>A (p.Tyr85Asn)
n.535T>A
c.1003T>A (p.Tyr335Asn)
c.1231T>A (p.Tyr411Asn)
c.1138T>A (p.Tyr380Asn)
Xg.19359576T>CCA412396834PDHA1c.1117T>C (p.Tyr373His)
c.*788T>C (n.*788T>C)
c.1180T>C (p.Tyr394His)
c.1210T>C (p.Tyr404His)
n.891T>C
c.*428T>C (n.*428T>C)
c.*551T>C (n.*551T>C)
c.1096T>C (p.Tyr366His)
c.253T>C (p.Tyr85His)
n.535T>C
c.1003T>C (p.Tyr335His)
c.1231T>C (p.Tyr411His)
c.1138T>C (p.Tyr380His)
Xg.19359576T>GCA412396835PDHA1c.1117T>G (p.Tyr373Asp)
c.*788T>G (n.*788T>G)
c.1180T>G (p.Tyr394Asp)
c.1210T>G (p.Tyr404Asp)
n.891T>G
c.*428T>G (n.*428T>G)
c.*551T>G (n.*551T>G)
c.1096T>G (p.Tyr366Asp)
c.253T>G (p.Tyr85Asp)
n.535T>G
c.1003T>G (p.Tyr335Asp)
c.1231T>G (p.Tyr411Asp)
c.1138T>G (p.Tyr380Asp)
Xg.19359577A>CCA412396837PDHA1c.1118A>C (p.Tyr373Ser)
c.*789A>C (n.*789A>C)
c.1181A>C (p.Tyr394Ser)
c.1211A>C (p.Tyr404Ser)
n.892A>C
c.*429A>C (n.*429A>C)
c.*552A>C (n.*552A>C)
c.1097A>C (p.Tyr366Ser)
c.254A>C (p.Tyr85Ser)
n.536A>C
c.1004A>C (p.Tyr335Ser)
c.1232A>C (p.Tyr411Ser)
c.1139A>C (p.Tyr380Ser)
Xg.19359577A>GCA412396843PDHA1c.1118A>G (p.Tyr373Cys)
c.*789A>G (n.*789A>G)
c.1181A>G (p.Tyr394Cys)
c.1211A>G (p.Tyr404Cys)
n.892A>G
c.*429A>G (n.*429A>G)
c.*552A>G (n.*552A>G)
c.1097A>G (p.Tyr366Cys)
c.254A>G (p.Tyr85Cys)
n.536A>G
c.1004A>G (p.Tyr335Cys)
c.1232A>G (p.Tyr411Cys)
c.1139A>G (p.Tyr380Cys)
Xg.19359577A>TCA412396839PDHA1c.1118A>T (p.Tyr373Phe)
c.*789A>T (n.*789A>T)
c.1181A>T (p.Tyr394Phe)
c.1211A>T (p.Tyr404Phe)
n.892A>T
c.*429A>T (n.*429A>T)
c.*552A>T (n.*552A>T)
c.1097A>T (p.Tyr366Phe)
c.254A>T (p.Tyr85Phe)
n.536A>T
c.1004A>T (p.Tyr335Phe)
c.1232A>T (p.Tyr411Phe)
c.1139A>T (p.Tyr380Phe)
Xg.19359578C>ACA412396847PDHA1c.1119C>A (p.Tyr373Ter)
c.*790C>A (n.*790C>A)
c.1182C>A (p.Tyr394Ter)
c.1212C>A (p.Tyr404Ter)
n.893C>A
c.*430C>A (n.*430C>A)
c.*553C>A (n.*553C>A)
c.1098C>A (p.Tyr366Ter)
c.255C>A (p.Tyr85Ter)
n.537C>A
c.1005C>A (p.Tyr335Ter)
c.1233C>A (p.Tyr411Ter)
c.1140C>A (p.Tyr380Ter)
 ClinVar dbSNP
Xg.19359578C=CA2418225594PDHA1c.1119C= (p.Tyr373=)
c.*790C= (n.*790C=)
c.1182C= (p.Tyr394=)
c.1212C= (p.Tyr404=)
n.893C=
c.*430C= (n.*430C=)
c.*553C= (n.*553C=)
c.1098C= (p.Tyr366=)
c.255C= (p.Tyr85=)
n.537C=
c.1005C= (p.Tyr335=)
c.1233C= (p.Tyr411=)
c.1140C= (p.Tyr380=)
Xg.19359578C>GCA412396849PDHA1c.1119C>G (p.Tyr373Ter)
c.*790C>G (n.*790C>G)
c.1182C>G (p.Tyr394Ter)
c.1212C>G (p.Tyr404Ter)
n.893C>G
c.*430C>G (n.*430C>G)
c.*553C>G (n.*553C>G)
c.1098C>G (p.Tyr366Ter)
c.255C>G (p.Tyr85Ter)
n.537C>G
c.1005C>G (p.Tyr335Ter)
c.1233C>G (p.Tyr411Ter)
c.1140C>G (p.Tyr380Ter)
Xg.19359578C>TCA515486455PDHA1c.1119C>T (p.Tyr373=)
c.*790C>T (n.*790C>T)
c.1182C>T (p.Tyr394=)
c.1212C>T (p.Tyr404=)
n.893C>T
c.*430C>T (n.*430C>T)
c.*553C>T (n.*553C>T)
c.1098C>T (p.Tyr366=)
c.255C>T (p.Tyr85=)
n.537C>T
c.1005C>T (p.Tyr335=)
c.1233C>T (p.Tyr411=)
c.1140C>T (p.Tyr380=)
Xg.19359579delCA2527477704PDHA1c.1120del (p.His374ThrfsTer?)
c.*791del (n.*791del)
c.1183del (p.His395ThrfsTer?)
c.1213del (p.His405ThrfsTer?)
n.894del
c.*431del (n.*431del)
c.*554del (n.*554del)
c.1099del (p.His367ThrfsTer?)
c.256del (p.His86ThrfsTer?)
n.538del
c.1006del (p.His336ThrfsTer?)
c.1234del (p.His412ThrfsTer?)
c.1141del (p.His381ThrfsTer?)
Xg.19359579C>ACA412396852PDHA1c.1120C>A (p.His374Asn)
c.*791C>A (n.*791C>A)
c.1183C>A (p.His395Asn)
c.1213C>A (p.His405Asn)
n.894C>A
c.*431C>A (n.*431C>A)
c.*554C>A (n.*554C>A)
c.1099C>A (p.His367Asn)
c.256C>A (p.His86Asn)
n.538C>A
c.1006C>A (p.His336Asn)
c.1234C>A (p.His412Asn)
c.1141C>A (p.His381Asn)
 gnomAD v3 gnomAD v4
Xg.19359579C=CA2418225595PDHA1c.1120C= (p.His374=)
c.*791C= (n.*791C=)
c.1183C= (p.His395=)
c.1213C= (p.His405=)
n.894C=
c.*431C= (n.*431C=)
c.*554C= (n.*554C=)
c.1099C= (p.His367=)
c.256C= (p.His86=)
n.538C=
c.1006C= (p.His336=)
c.1234C= (p.His412=)
c.1141C= (p.His381=)
Xg.19359579C>GCA412396853PDHA1c.1120C>G (p.His374Asp)
c.*791C>G (n.*791C>G)
c.1183C>G (p.His395Asp)
c.1213C>G (p.His405Asp)
n.894C>G
c.*431C>G (n.*431C>G)
c.*554C>G (n.*554C>G)
c.1099C>G (p.His367Asp)
c.256C>G (p.His86Asp)
n.538C>G
c.1006C>G (p.His336Asp)
c.1234C>G (p.His412Asp)
c.1141C>G (p.His381Asp)
Xg.19359579C>TCA412396858PDHA1c.1120C>T (p.His374Tyr)
c.*791C>T (n.*791C>T)
c.1183C>T (p.His395Tyr)
c.1213C>T (p.His405Tyr)
n.894C>T
c.*431C>T (n.*431C>T)
c.*554C>T (n.*554C>T)
c.1099C>T (p.His367Tyr)
c.256C>T (p.His86Tyr)
n.538C>T
c.1006C>T (p.His336Tyr)
c.1234C>T (p.His412Tyr)
c.1141C>T (p.His381Tyr)
 ClinVar dbSNP
Xg.19359580A=CA2418225596PDHA1c.1121A= (p.His374=)
c.*792A= (n.*792A=)
c.1184A= (p.His395=)
c.1214A= (p.His405=)
n.895A=
c.*432A= (n.*432A=)
c.*555A= (n.*555A=)
c.1100A= (p.His367=)
c.257A= (p.His86=)
n.539A=
c.1007A= (p.His336=)
c.1235A= (p.His412=)
c.1142A= (p.His381=)
Xg.19359580A>CCA412396862PDHA1c.1121A>C (p.His374Pro)
c.*792A>C (n.*792A>C)
c.1184A>C (p.His395Pro)
c.1214A>C (p.His405Pro)
n.895A>C
c.*432A>C (n.*432A>C)
c.*555A>C (n.*555A>C)
c.1100A>C (p.His367Pro)
c.257A>C (p.His86Pro)
n.539A>C
c.1007A>C (p.His336Pro)
c.1235A>C (p.His412Pro)
c.1142A>C (p.His381Pro)
 ClinVar dbSNP
Xg.19359580A>GCA412396866PDHA1c.1121A>G (p.His374Arg)
c.*792A>G (n.*792A>G)
c.1184A>G (p.His395Arg)
c.1214A>G (p.His405Arg)
n.895A>G
c.*432A>G (n.*432A>G)
c.*555A>G (n.*555A>G)
c.1100A>G (p.His367Arg)
c.257A>G (p.His86Arg)
n.539A>G
c.1007A>G (p.His336Arg)
c.1235A>G (p.His412Arg)
c.1142A>G (p.His381Arg)
Xg.19359580A>TCA412396868PDHA1c.1121A>T (p.His374Leu)
c.*792A>T (n.*792A>T)
c.1184A>T (p.His395Leu)
c.1214A>T (p.His405Leu)
n.895A>T
c.*432A>T (n.*432A>T)
c.*555A>T (n.*555A>T)
c.1100A>T (p.His367Leu)
c.257A>T (p.His86Leu)
n.539A>T
c.1007A>T (p.His336Leu)
c.1235A>T (p.His412Leu)
c.1142A>T (p.His381Leu)
 ClinVar dbSNP
Xg.19359581C>ACA412396872PDHA1c.1122C>A (p.His374Gln)
c.*793C>A (n.*793C>A)
c.1185C>A (p.His395Gln)
c.1215C>A (p.His405Gln)
n.896C>A
c.*433C>A (n.*433C>A)
c.*556C>A (n.*556C>A)
c.1101C>A (p.His367Gln)
c.258C>A (p.His86Gln)
n.540C>A
c.1008C>A (p.His336Gln)
c.1236C>A (p.His412Gln)
c.1143C>A (p.His381Gln)
Xg.19359581C>GCA412396874PDHA1c.1122C>G (p.His374Gln)
c.*793C>G (n.*793C>G)
c.1185C>G (p.His395Gln)
c.1215C>G (p.His405Gln)
n.896C>G
c.*433C>G (n.*433C>G)
c.*556C>G (n.*556C>G)
c.1101C>G (p.His367Gln)
c.258C>G (p.His86Gln)
n.540C>G
c.1008C>G (p.His336Gln)
c.1236C>G (p.His412Gln)
c.1143C>G (p.His381Gln)
Xg.19359581C>TCA515486456PDHA1c.1122C>T (p.His374=)
c.*793C>T (n.*793C>T)
c.1185C>T (p.His395=)
c.1215C>T (p.His405=)
n.896C>T
c.*433C>T (n.*433C>T)
c.*556C>T (n.*556C>T)
c.1101C>T (p.His367=)
c.258C>T (p.His86=)
n.540C>T
c.1008C>T (p.His336=)
c.1236C>T (p.His412=)
c.1143C>T (p.His381=)
 gnomAD v4
Xg.19359582A=CA2418225597PDHA1c.1123A= (p.Ile375=)
c.*794A= (n.*794A=)
c.1186A= (p.Ile396=)
c.1216A= (p.Ile406=)
n.897A=
c.*434A= (n.*434A=)
c.*557A= (n.*557A=)
c.1102A= (p.Ile368=)
c.259A= (p.Ile87=)
n.541A=
c.1009A= (p.Ile337=)
c.1237A= (p.Ile413=)
c.1144A= (p.Ile382=)
Xg.19359582A>CCA10363211PDHA1c.1123A>C (p.Ile375Leu)
c.*794A>C (n.*794A>C)
c.1186A>C (p.Ile396Leu)
c.1216A>C (p.Ile406Leu)
n.897A>C
c.*434A>C (n.*434A>C)
c.*557A>C (n.*557A>C)
c.1102A>C (p.Ile368Leu)
c.259A>C (p.Ile87Leu)
n.541A>C
c.1009A>C (p.Ile337Leu)
c.1237A>C (p.Ile413Leu)
c.1144A>C (p.Ile382Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19359582A>GCA412396882PDHA1c.1123A>G (p.Ile375Val)
c.*794A>G (n.*794A>G)
c.1186A>G (p.Ile396Val)
c.1216A>G (p.Ile406Val)
n.897A>G
c.*434A>G (n.*434A>G)
c.*557A>G (n.*557A>G)
c.1102A>G (p.Ile368Val)
c.259A>G (p.Ile87Val)
n.541A>G
c.1009A>G (p.Ile337Val)
c.1237A>G (p.Ile413Val)
c.1144A>G (p.Ile382Val)
 gnomAD v4
Xg.19359582A>TCA412396879PDHA1c.1123A>T (p.Ile375Phe)
c.*794A>T (n.*794A>T)
c.1186A>T (p.Ile396Phe)
c.1216A>T (p.Ile406Phe)
n.897A>T
c.*434A>T (n.*434A>T)
c.*557A>T (n.*557A>T)
c.1102A>T (p.Ile368Phe)
c.259A>T (p.Ile87Phe)
n.541A>T
c.1009A>T (p.Ile337Phe)
c.1237A>T (p.Ile413Phe)
c.1144A>T (p.Ile382Phe)
Xg.19359583T>ACA412396890PDHA1c.1124T>A (p.Ile375Asn)
c.*795T>A (n.*795T>A)
c.1187T>A (p.Ile396Asn)
c.1217T>A (p.Ile406Asn)
n.898T>A
c.*435T>A (n.*435T>A)
c.*558T>A (n.*558T>A)
c.1103T>A (p.Ile368Asn)
c.260T>A (p.Ile87Asn)
n.542T>A
c.1010T>A (p.Ile337Asn)
c.1238T>A (p.Ile413Asn)
c.1145T>A (p.Ile382Asn)
Xg.19359583T>CCA412396895PDHA1c.1124T>C (p.Ile375Thr)
c.*795T>C (n.*795T>C)
c.1187T>C (p.Ile396Thr)
c.1217T>C (p.Ile406Thr)
n.898T>C
c.*435T>C (n.*435T>C)
c.*558T>C (n.*558T>C)
c.1103T>C (p.Ile368Thr)
c.260T>C (p.Ile87Thr)
n.542T>C
c.1010T>C (p.Ile337Thr)
c.1238T>C (p.Ile413Thr)
c.1145T>C (p.Ile382Thr)
Xg.19359583T>GCA412396892PDHA1c.1124T>G (p.Ile375Ser)
c.*795T>G (n.*795T>G)
c.1187T>G (p.Ile396Ser)
c.1217T>G (p.Ile406Ser)
n.898T>G
c.*435T>G (n.*435T>G)
c.*558T>G (n.*558T>G)
c.1103T>G (p.Ile368Ser)
c.260T>G (p.Ile87Ser)
n.542T>G
c.1010T>G (p.Ile337Ser)
c.1238T>G (p.Ile413Ser)
c.1145T>G (p.Ile382Ser)
Xg.19359583_19359588dupCA2580100440PDHA1c.1124_1129dup (p.Tyr376_Ser377insPheTyr)
c.*795_*800dup (n.*795_*800dup)
c.1187_1192dup (p.Tyr397_Ser398insPheTyr)
c.1217_1222dup (p.Tyr407_Ser408insPheTyr)
n.898_903dup
c.*435_*440dup (n.*435_*440dup)
c.*558_*563dup (n.*558_*563dup)
c.1103_1108dup (p.Tyr369_Ser370insPheTyr)
c.260_265dup (p.Tyr88_Ser89insPheTyr)
n.542_547dup
c.1010_1015dup (p.Tyr338_Ser339insPheTyr)
c.1238_1243dup (p.Tyr414_Ser415insPheTyr)
c.1145_1150dup (p.Tyr383_Ser384insPheTyr)
 ClinVar
Xg.19359584C>ACA515486457PDHA1c.1125C>A (p.Ile375=)
c.*796C>A (n.*796C>A)
c.1188C>A (p.Ile396=)
c.1218C>A (p.Ile406=)
n.899C>A
c.*436C>A (n.*436C>A)
c.*559C>A (n.*559C>A)
c.1104C>A (p.Ile368=)
c.261C>A (p.Ile87=)
n.543C>A
c.1011C>A (p.Ile337=)
c.1239C>A (p.Ile413=)
c.1146C>A (p.Ile382=)
Xg.19359584C>GCA412396898PDHA1c.1125C>G (p.Ile375Met)
c.*796C>G (n.*796C>G)
c.1188C>G (p.Ile396Met)
c.1218C>G (p.Ile406Met)
n.899C>G
c.*436C>G (n.*436C>G)
c.*559C>G (n.*559C>G)
c.1104C>G (p.Ile368Met)
c.261C>G (p.Ile87Met)
n.543C>G
c.1011C>G (p.Ile337Met)
c.1239C>G (p.Ile413Met)
c.1146C>G (p.Ile382Met)
Xg.19359584C>TCA515486458PDHA1c.1125C>T (p.Ile375=)
c.*796C>T (n.*796C>T)
c.1188C>T (p.Ile396=)
c.1218C>T (p.Ile406=)
n.899C>T
c.*436C>T (n.*436C>T)
c.*559C>T (n.*559C>T)
c.1104C>T (p.Ile368=)
c.261C>T (p.Ile87=)
n.543C>T
c.1011C>T (p.Ile337=)
c.1239C>T (p.Ile413=)
c.1146C>T (p.Ile382=)
Xg.19359585T>ACA412396903PDHA1c.1126T>A (p.Tyr376Asn)
c.*797T>A (n.*797T>A)
c.1189T>A (p.Tyr397Asn)
c.1219T>A (p.Tyr407Asn)
n.900T>A
c.*437T>A (n.*437T>A)
c.*560T>A (n.*560T>A)
c.1105T>A (p.Tyr369Asn)
c.262T>A (p.Tyr88Asn)
n.544T>A
c.1012T>A (p.Tyr338Asn)
c.1240T>A (p.Tyr414Asn)
c.1147T>A (p.Tyr383Asn)
Xg.19359585T>CCA412396907PDHA1c.1126T>C (p.Tyr376His)
c.*797T>C (n.*797T>C)
c.1189T>C (p.Tyr397His)
c.1219T>C (p.Tyr407His)
n.900T>C
c.*437T>C (n.*437T>C)
c.*560T>C (n.*560T>C)
c.1105T>C (p.Tyr369His)
c.262T>C (p.Tyr88His)
n.544T>C
c.1012T>C (p.Tyr338His)
c.1240T>C (p.Tyr414His)
c.1147T>C (p.Tyr383His)
Xg.19359585T>GCA412396910PDHA1c.1126T>G (p.Tyr376Asp)
c.*797T>G (n.*797T>G)
c.1189T>G (p.Tyr397Asp)
c.1219T>G (p.Tyr407Asp)
n.900T>G
c.*437T>G (n.*437T>G)
c.*560T>G (n.*560T>G)
c.1105T>G (p.Tyr369Asp)
c.262T>G (p.Tyr88Asp)
n.544T>G
c.1012T>G (p.Tyr338Asp)
c.1240T>G (p.Tyr414Asp)
c.1147T>G (p.Tyr383Asp)
Xg.19359585_19359587delinsCAACA2695231673PDHA1c.1126_1128delinsCAA (p.Tyr376Gln)
c.*797_*799delinsCAA (n.*797_*799delinsCAA)
c.1189_1191delinsCAA (p.Tyr397Gln)
c.1219_1221delinsCAA (p.Tyr407Gln)
n.900_902delinsCAA
c.*437_*439delinsCAA (n.*437_*439delinsCAA)
c.*560_*562delinsCAA (n.*560_*562delinsCAA)
c.1105_1107delinsCAA (p.Tyr369Gln)
c.262_264delinsCAA (p.Tyr88Gln)
n.544_546delinsCAA
c.1012_1014delinsCAA (p.Tyr338Gln)
c.1240_1242delinsCAA (p.Tyr414Gln)
c.1147_1149delinsCAA (p.Tyr383Gln)
Xg.19359586A>CCA412396914PDHA1c.1127A>C (p.Tyr376Ser)
c.*798A>C (n.*798A>C)
c.1190A>C (p.Tyr397Ser)
c.1220A>C (p.Tyr407Ser)
n.901A>C
c.*438A>C (n.*438A>C)
c.*561A>C (n.*561A>C)
c.1106A>C (p.Tyr369Ser)
c.263A>C (p.Tyr88Ser)
n.545A>C
c.1013A>C (p.Tyr338Ser)
c.1241A>C (p.Tyr414Ser)
c.1148A>C (p.Tyr383Ser)
Xg.19359586A>GCA412396916PDHA1c.1127A>G (p.Tyr376Cys)
c.*798A>G (n.*798A>G)
c.1190A>G (p.Tyr397Cys)
c.1220A>G (p.Tyr407Cys)
n.901A>G
c.*438A>G (n.*438A>G)
c.*561A>G (n.*561A>G)
c.1106A>G (p.Tyr369Cys)
c.263A>G (p.Tyr88Cys)
n.545A>G
c.1013A>G (p.Tyr338Cys)
c.1241A>G (p.Tyr414Cys)
c.1148A>G (p.Tyr383Cys)
Xg.19359586A>TCA412396919PDHA1c.1127A>T (p.Tyr376Phe)
c.*798A>T (n.*798A>T)
c.1190A>T (p.Tyr397Phe)
c.1220A>T (p.Tyr407Phe)
n.901A>T
c.*438A>T (n.*438A>T)
c.*561A>T (n.*561A>T)
c.1106A>T (p.Tyr369Phe)
c.263A>T (p.Tyr88Phe)
n.545A>T
c.1013A>T (p.Tyr338Phe)
c.1241A>T (p.Tyr414Phe)
c.1148A>T (p.Tyr383Phe)
Xg.19359587C>ACA412396923PDHA1c.1128C>A (p.Tyr376Ter)
c.*799C>A (n.*799C>A)
c.1191C>A (p.Tyr397Ter)
c.1221C>A (p.Tyr407Ter)
n.902C>A
c.*439C>A (n.*439C>A)
c.*562C>A (n.*562C>A)
c.1107C>A (p.Tyr369Ter)
c.264C>A (p.Tyr88Ter)
n.546C>A
c.1014C>A (p.Tyr338Ter)
c.1242C>A (p.Tyr414Ter)
c.1149C>A (p.Tyr383Ter)
Xg.19359587C=CA2418225598PDHA1c.1128C= (p.Tyr376=)
c.*799C= (n.*799C=)
c.1191C= (p.Tyr397=)
c.1221C= (p.Tyr407=)
n.902C=
c.*439C= (n.*439C=)
c.*562C= (n.*562C=)
c.1107C= (p.Tyr369=)
c.264C= (p.Tyr88=)
n.546C=
c.1014C= (p.Tyr338=)
c.1242C= (p.Tyr414=)
c.1149C= (p.Tyr383=)
Xg.19359587C>GCA412396929PDHA1c.1128C>G (p.Tyr376Ter)
c.*799C>G (n.*799C>G)
c.1191C>G (p.Tyr397Ter)
c.1221C>G (p.Tyr407Ter)
n.902C>G
c.*439C>G (n.*439C>G)
c.*562C>G (n.*562C>G)
c.1107C>G (p.Tyr369Ter)
c.264C>G (p.Tyr88Ter)
n.546C>G
c.1014C>G (p.Tyr338Ter)
c.1242C>G (p.Tyr414Ter)
c.1149C>G (p.Tyr383Ter)
Xg.19359587C>TCA515486459PDHA1c.1128C>T (p.Tyr376=)
c.*799C>T (n.*799C>T)
c.1191C>T (p.Tyr397=)
c.1221C>T (p.Tyr407=)
n.902C>T
c.*439C>T (n.*439C>T)
c.*562C>T (n.*562C>T)
c.1107C>T (p.Tyr369=)
c.264C>T (p.Tyr88=)
n.546C>T
c.1014C>T (p.Tyr338=)
c.1242C>T (p.Tyr414=)
c.1149C>T (p.Tyr383=)
 dbSNP gnomAD v2 gnomAD v4
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.19359588T>ACA412396934PDHA1c.1129T>A (p.Ser377Thr)
c.*800T>A (n.*800T>A)
c.1192T>A (p.Ser398Thr)
c.1222T>A (p.Ser408Thr)
n.903T>A
c.*440T>A (n.*440T>A)
c.*563T>A (n.*563T>A)
c.1108T>A (p.Ser370Thr)
c.265T>A (p.Ser89Thr)
n.547T>A
c.1015T>A (p.Ser339Thr)
c.1243T>A (p.Ser415Thr)
c.1150T>A (p.Ser384Thr)
Xg.19359588T>CCA412396937PDHA1c.1129T>C (p.Ser377Pro)
c.*800T>C (n.*800T>C)
c.1192T>C (p.Ser398Pro)
c.1222T>C (p.Ser408Pro)
n.903T>C
c.*440T>C (n.*440T>C)
c.*563T>C (n.*563T>C)
c.1108T>C (p.Ser370Pro)
c.265T>C (p.Ser89Pro)
n.547T>C
c.1015T>C (p.Ser339Pro)
c.1243T>C (p.Ser415Pro)
c.1150T>C (p.Ser384Pro)
Xg.19359588T>GCA412396940PDHA1c.1129T>G (p.Ser377Ala)
c.*800T>G (n.*800T>G)
c.1192T>G (p.Ser398Ala)
c.1222T>G (p.Ser408Ala)
n.903T>G
c.*440T>G (n.*440T>G)
c.*563T>G (n.*563T>G)
c.1108T>G (p.Ser370Ala)
c.265T>G (p.Ser89Ala)
n.547T>G
c.1015T>G (p.Ser339Ala)
c.1243T>G (p.Ser415Ala)
c.1150T>G (p.Ser384Ala)
Xg.19359589C>ACA412396944PDHA1c.1130C>A (p.Ser377Tyr)
c.*801C>A (n.*801C>A)
c.1193C>A (p.Ser398Tyr)
c.1223C>A (p.Ser408Tyr)
n.904C>A
c.*441C>A (n.*441C>A)
c.*564C>A (n.*564C>A)
c.1109C>A (p.Ser370Tyr)
c.266C>A (p.Ser89Tyr)
n.548C>A
c.1016C>A (p.Ser339Tyr)
c.1244C>A (p.Ser415Tyr)
c.1151C>A (p.Ser384Tyr)
Xg.19359589C>GCA412396950PDHA1c.1130C>G (p.Ser377Cys)
c.*801C>G (n.*801C>G)
c.1193C>G (p.Ser398Cys)
c.1223C>G (p.Ser408Cys)
n.904C>G
c.*441C>G (n.*441C>G)
c.*564C>G (n.*564C>G)
c.1109C>G (p.Ser370Cys)
c.266C>G (p.Ser89Cys)
n.548C>G
c.1016C>G (p.Ser339Cys)
c.1244C>G (p.Ser415Cys)
c.1151C>G (p.Ser384Cys)
Xg.19359589C>TCA412396947PDHA1c.1130C>T (p.Ser377Phe)
c.*801C>T (n.*801C>T)
c.1193C>T (p.Ser398Phe)
c.1223C>T (p.Ser408Phe)
n.904C>T
c.*441C>T (n.*441C>T)
c.*564C>T (n.*564C>T)
c.1109C>T (p.Ser370Phe)
c.266C>T (p.Ser89Phe)
n.548C>T
c.1016C>T (p.Ser339Phe)
c.1244C>T (p.Ser415Phe)
c.1151C>T (p.Ser384Phe)
Xg.19359589_19359590delinsTTCA645608006PDHA1c.1130_1131delinsTT (p.Ser377Phe)
c.*801_*802delinsTT (n.*801_*802delinsTT)
c.1193_1194delinsTT (p.Ser398Phe)
c.1223_1224delinsTT (p.Ser408Phe)
n.904_905delinsTT
c.*441_*442delinsTT (n.*441_*442delinsTT)
c.*564_*565delinsTT (n.*564_*565delinsTT)
c.1109_1110delinsTT (p.Ser370Phe)
c.266_267delinsTT (p.Ser89Phe)
n.548_549delinsTT
c.1016_1017delinsTT (p.Ser339Phe)
c.1244_1245delinsTT (p.Ser415Phe)
c.1151_1152delinsTT (p.Ser384Phe)
 COSMIC COSMIC COSMIC
Xg.19359590C>ACA10363212PDHA1c.1131C>A (p.Ser377=)
c.*802C>A (n.*802C>A)
c.1194C>A (p.Ser398=)
c.1224C>A (p.Ser408=)
n.905C>A
c.*442C>A (n.*442C>A)
c.*565C>A (n.*565C>A)
c.1110C>A (p.Ser370=)
c.267C>A (p.Ser89=)
n.549C>A
c.1017C>A (p.Ser339=)
c.1245C>A (p.Ser415=)
c.1152C>A (p.Ser384=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359590C=CA2418225599PDHA1c.1131C= (p.Ser377=)
c.*802C= (n.*802C=)
c.1194C= (p.Ser398=)
c.1224C= (p.Ser408=)
n.905C=
c.*442C= (n.*442C=)
c.*565C= (n.*565C=)
c.1110C= (p.Ser370=)
c.267C= (p.Ser89=)
n.549C=
c.1017C= (p.Ser339=)
c.1245C= (p.Ser415=)
c.1152C= (p.Ser384=)
Xg.19359590C>GCA515486460PDHA1c.1131C>G (p.Ser377=)
c.*802C>G (n.*802C>G)
c.1194C>G (p.Ser398=)
c.1224C>G (p.Ser408=)
n.905C>G
c.*442C>G (n.*442C>G)
c.*565C>G (n.*565C>G)
c.1110C>G (p.Ser370=)
c.267C>G (p.Ser89=)
n.549C>G
c.1017C>G (p.Ser339=)
c.1245C>G (p.Ser415=)
c.1152C>G (p.Ser384=)
Xg.19359590C>TCA515486461PDHA1c.1131C>T (p.Ser377=)
c.*802C>T (n.*802C>T)
c.1194C>T (p.Ser398=)
c.1224C>T (p.Ser408=)
n.905C>T
c.*442C>T (n.*442C>T)
c.*565C>T (n.*565C>T)
c.1110C>T (p.Ser370=)
c.267C>T (p.Ser89=)
n.549C>T
c.1017C>T (p.Ser339=)
c.1245C>T (p.Ser415=)
c.1152C>T (p.Ser384=)
Xg.19359591A>CCA412396958PDHA1c.1132A>C (p.Ser378Arg)
c.*803A>C (n.*803A>C)
c.1195A>C (p.Ser399Arg)
c.1225A>C (p.Ser409Arg)
n.906A>C
c.*443A>C (n.*443A>C)
c.*566A>C (n.*566A>C)
c.1111A>C (p.Ser371Arg)
c.268A>C (p.Ser90Arg)
n.550A>C
c.1018A>C (p.Ser340Arg)
c.1246A>C (p.Ser416Arg)
c.1153A>C (p.Ser385Arg)
Xg.19359591A>GCA412396962PDHA1c.1132A>G (p.Ser378Gly)
c.*803A>G (n.*803A>G)
c.1195A>G (p.Ser399Gly)
c.1225A>G (p.Ser409Gly)
n.906A>G
c.*443A>G (n.*443A>G)
c.*566A>G (n.*566A>G)
c.1111A>G (p.Ser371Gly)
c.268A>G (p.Ser90Gly)
n.550A>G
c.1018A>G (p.Ser340Gly)
c.1246A>G (p.Ser416Gly)
c.1153A>G (p.Ser385Gly)
Xg.19359591A>TCA412396966PDHA1c.1132A>T (p.Ser378Cys)
c.*803A>T (n.*803A>T)
c.1195A>T (p.Ser399Cys)
c.1225A>T (p.Ser409Cys)
n.906A>T
c.*443A>T (n.*443A>T)
c.*566A>T (n.*566A>T)
c.1111A>T (p.Ser371Cys)
c.268A>T (p.Ser90Cys)
n.550A>T
c.1018A>T (p.Ser340Cys)
c.1246A>T (p.Ser416Cys)
c.1153A>T (p.Ser385Cys)
Xg.19359592G>ACA412396971PDHA1c.1133G>A (p.Ser378Asn)
c.*804G>A (n.*804G>A)
c.1196G>A (p.Ser399Asn)
c.1226G>A (p.Ser409Asn)
n.907G>A
c.*444G>A (n.*444G>A)
c.*567G>A (n.*567G>A)
c.1112G>A (p.Ser371Asn)
c.269G>A (p.Ser90Asn)
n.551G>A
c.1019G>A (p.Ser340Asn)
c.1247G>A (p.Ser416Asn)
c.1154G>A (p.Ser385Asn)
Xg.19359592G>CCA412396972PDHA1c.1133G>C (p.Ser378Thr)
c.*804G>C (n.*804G>C)
c.1196G>C (p.Ser399Thr)
c.1226G>C (p.Ser409Thr)
n.907G>C
c.*444G>C (n.*444G>C)
c.*567G>C (n.*567G>C)
c.1112G>C (p.Ser371Thr)
c.269G>C (p.Ser90Thr)
n.551G>C
c.1019G>C (p.Ser340Thr)
c.1247G>C (p.Ser416Thr)
c.1154G>C (p.Ser385Thr)
 dbSNP gnomAD v4
Xg.19359592G=CA2418225600PDHA1c.1133G= (p.Ser378=)
c.*804G= (n.*804G=)
c.1196G= (p.Ser399=)
c.1226G= (p.Ser409=)
n.907G=
c.*444G= (n.*444G=)
c.*567G= (n.*567G=)
c.1112G= (p.Ser371=)
c.269G= (p.Ser90=)
n.551G=
c.1019G= (p.Ser340=)
c.1247G= (p.Ser416=)
c.1154G= (p.Ser385=)
Xg.19359592G>TCA412396976PDHA1c.1133G>T (p.Ser378Ile)
c.*804G>T (n.*804G>T)
c.1196G>T (p.Ser399Ile)
c.1226G>T (p.Ser409Ile)
n.907G>T
c.*444G>T (n.*444G>T)
c.*567G>T (n.*567G>T)
c.1112G>T (p.Ser371Ile)
c.269G>T (p.Ser90Ile)
n.551G>T
c.1019G>T (p.Ser340Ile)
c.1247G>T (p.Ser416Ile)
c.1154G>T (p.Ser385Ile)
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.19359623_19359625dupCA2825002903PDHA1c.1164_1166dup (p.Asn388_Gln389insHis)
c.*835_*837dup (n.*835_*837dup)
c.1227_1229dup (p.Asn409_Gln410insHis)
c.1257_1259dup (p.Asn419_Gln420insHis)
n.938_940dup
c.*475_*477dup (n.*475_*477dup)
c.*598_*600dup (n.*598_*600dup)
c.1143_1145dup (p.Asn381_Gln382insHis)
c.300_302dup (p.Asn100_Gln101insHis)
n.582_584dup
c.1050_1052dup (p.Asn350_Gln351insHis)
c.1278_1280dup (p.Asn426_Gln427insHis)
c.1185_1187dup (p.Asn395_Gln396insHis)
 ClinVar
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

Number of alleles fetched