Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.19350111_19351408dupCA913191131PDHA1c.291+1_439+1dup
c.291+1_418+1dup
c.375+1_502+1dup
c.405+1_532+1dup
n.393+1_521dup
c.405+1_553+1dup
 ClinVar
Xg.19351362T>ACA412391179PDHA1c.394T>A (p.Phe132Ile)
c.373T>A (p.Phe125Ile)
c.457T>A (p.Phe153Ile)
c.487T>A (p.Phe163Ile)
n.475T>A
c.508T>A (p.Phe170Ile)
Xg.19351362T>CCA412391177PDHA1c.394T>C (p.Phe132Leu)
c.373T>C (p.Phe125Leu)
c.457T>C (p.Phe153Leu)
c.487T>C (p.Phe163Leu)
n.475T>C
c.508T>C (p.Phe170Leu)
 gnomAD v4
Xg.19351362T>GCA412391178PDHA1c.394T>G (p.Phe132Val)
c.373T>G (p.Phe125Val)
c.457T>G (p.Phe153Val)
c.487T>G (p.Phe163Val)
n.475T>G
c.508T>G (p.Phe170Val)
Xg.19351363T>ACA412391180PDHA1c.395T>A (p.Phe132Tyr)
c.374T>A (p.Phe125Tyr)
c.458T>A (p.Phe153Tyr)
c.488T>A (p.Phe163Tyr)
n.476T>A
c.509T>A (p.Phe170Tyr)
Xg.19351363T>CCA412391181PDHA1c.395T>C (p.Phe132Ser)
c.374T>C (p.Phe125Ser)
c.458T>C (p.Phe153Ser)
c.488T>C (p.Phe163Ser)
n.476T>C
c.509T>C (p.Phe170Ser)
Xg.19351363T>GCA412391183PDHA1c.395T>G (p.Phe132Cys)
c.374T>G (p.Phe125Cys)
c.458T>G (p.Phe153Cys)
c.488T>G (p.Phe163Cys)
n.476T>G
c.509T>G (p.Phe170Cys)
Xg.19351364C>ACA412391185PDHA1c.396C>A (p.Phe132Leu)
c.375C>A (p.Phe125Leu)
c.459C>A (p.Phe153Leu)
c.489C>A (p.Phe163Leu)
n.477C>A
c.510C>A (p.Phe170Leu)
Xg.19351364C=CA2418222117PDHA1c.396C= (p.Phe132=)
c.375C= (p.Phe125=)
c.459C= (p.Phe153=)
c.489C= (p.Phe163=)
n.477C=
c.510C= (p.Phe170=)
Xg.19351364C>GCA412391187PDHA1c.396C>G (p.Phe132Leu)
c.375C>G (p.Phe125Leu)
c.459C>G (p.Phe153Leu)
c.489C>G (p.Phe163Leu)
n.477C>G
c.510C>G (p.Phe170Leu)
Xg.19351364C>TCA515485602PDHA1c.396C>T (p.Phe132=)
c.375C>T (p.Phe125=)
c.459C>T (p.Phe153=)
c.489C>T (p.Phe163=)
n.477C>T
c.510C>T (p.Phe170=)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
Xg.19351365_19351366delCA2579566225PDHA1c.397_398del (p.Thr133ProfsTer21)
c.376_377del (p.Thr126ProfsTer21)
c.460_461del (p.Thr154ProfsTer21)
c.490_491del (p.Thr164ProfsTer21)
c.376_377del (p.Thr126ProfsTer?)
c.376_377del (p.Thr126ProfsTer23)
n.478_479del
c.511_512del (p.Thr171ProfsTer21)
Xg.19351365A>CCA412391189PDHA1c.397A>C (p.Thr133Pro)
c.376A>C (p.Thr126Pro)
c.460A>C (p.Thr154Pro)
c.490A>C (p.Thr164Pro)
n.478A>C
c.511A>C (p.Thr171Pro)
Xg.19351365A>GCA412391193PDHA1c.397A>G (p.Thr133Ala)
c.376A>G (p.Thr126Ala)
c.460A>G (p.Thr154Ala)
c.490A>G (p.Thr164Ala)
n.478A>G
c.511A>G (p.Thr171Ala)
 gnomAD v4
Xg.19351365A>TCA412391191PDHA1c.397A>T (p.Thr133Ser)
c.376A>T (p.Thr126Ser)
c.460A>T (p.Thr154Ser)
c.490A>T (p.Thr164Ser)
n.478A>T
c.511A>T (p.Thr171Ser)
Xg.19351366C>ACA412391196PDHA1c.398C>A (p.Thr133Asn)
c.377C>A (p.Thr126Asn)
c.461C>A (p.Thr154Asn)
c.491C>A (p.Thr164Asn)
n.479C>A
c.512C>A (p.Thr171Asn)
Xg.19351366C>GCA412391198PDHA1c.398C>G (p.Thr133Ser)
c.377C>G (p.Thr126Ser)
c.461C>G (p.Thr154Ser)
c.491C>G (p.Thr164Ser)
n.479C>G
c.512C>G (p.Thr171Ser)
Xg.19351366C>TCA412391200PDHA1c.398C>T (p.Thr133Ile)
c.377C>T (p.Thr126Ile)
c.461C>T (p.Thr154Ile)
c.491C>T (p.Thr164Ile)
n.479C>T
c.512C>T (p.Thr171Ile)
Xg.19351367C>ACA515485610PDHA1c.399C>A (p.Thr133=)
c.378C>A (p.Thr126=)
c.462C>A (p.Thr154=)
c.492C>A (p.Thr164=)
n.480C>A
c.513C>A (p.Thr171=)
Xg.19351367C=CA2418222118PDHA1c.399C= (p.Thr133=)
c.378C= (p.Thr126=)
c.462C= (p.Thr154=)
c.492C= (p.Thr164=)
n.480C=
c.513C= (p.Thr171=)
Xg.19351367C>GCA515485611PDHA1c.399C>G (p.Thr133=)
c.378C>G (p.Thr126=)
c.462C>G (p.Thr154=)
c.492C>G (p.Thr164=)
n.480C>G
c.513C>G (p.Thr171=)
 dbSNP
Xg.19351367C>TCA515485613PDHA1c.399C>T (p.Thr133=)
c.378C>T (p.Thr126=)
c.462C>T (p.Thr154=)
c.492C>T (p.Thr164=)
n.480C>T
c.513C>T (p.Thr171=)
Xg.19351368C>ACA515485615PDHA1c.400C>A (p.Arg134=)
c.379C>A (p.Arg127=)
c.463C>A (p.Arg155=)
c.493C>A (p.Arg165=)
n.481C>A
c.514C>A (p.Arg172=)
Xg.19351368C=CA2418222119PDHA1c.400C= (p.Arg134=)
c.379C= (p.Arg127=)
c.463C= (p.Arg155=)
c.493C= (p.Arg165=)
n.481C=
c.514C= (p.Arg172=)
Xg.19351368C>GCA412391201PDHA1c.400C>G (p.Arg134Gly)
c.379C>G (p.Arg127Gly)
c.463C>G (p.Arg155Gly)
c.493C>G (p.Arg165Gly)
n.481C>G
c.514C>G (p.Arg172Gly)
Xg.19351368C>TCA321249PDHA1c.400C>T (p.Arg134Trp)
c.379C>T (p.Arg127Trp)
c.463C>T (p.Arg155Trp)
c.493C>T (p.Arg165Trp)
n.481C>T
c.514C>T (p.Arg172Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.19351369G>ACA412391206PDHA1c.401G>A (p.Arg134Gln)
c.380G>A (p.Arg127Gln)
c.464G>A (p.Arg155Gln)
c.494G>A (p.Arg165Gln)
n.482G>A
c.515G>A (p.Arg172Gln)
 ClinVar dbSNP
Xg.19351369G>CCA412391208PDHA1c.401G>C (p.Arg134Pro)
c.380G>C (p.Arg127Pro)
c.464G>C (p.Arg155Pro)
c.494G>C (p.Arg165Pro)
n.482G>C
c.515G>C (p.Arg172Pro)
Xg.19351369G=CA2418222120PDHA1c.401G= (p.Arg134=)
c.380G= (p.Arg127=)
c.464G= (p.Arg155=)
c.494G= (p.Arg165=)
n.482G=
c.515G= (p.Arg172=)
Xg.19351369G>TCA412391209PDHA1c.401G>T (p.Arg134Leu)
c.380G>T (p.Arg127Leu)
c.464G>T (p.Arg155Leu)
c.494G>T (p.Arg165Leu)
n.482G>T
c.515G>T (p.Arg172Leu)
Xg.19351370G>ACA515485623PDHA1c.402G>A (p.Arg134=)
c.381G>A (p.Arg127=)
c.465G>A (p.Arg155=)
c.495G>A (p.Arg165=)
n.483G>A
c.516G>A (p.Arg172=)
Xg.19351370G>CCA515485624PDHA1c.402G>C (p.Arg134=)
c.381G>C (p.Arg127=)
c.465G>C (p.Arg155=)
c.495G>C (p.Arg165=)
n.483G>C
c.516G>C (p.Arg172=)
Xg.19351370G>TCA515485621PDHA1c.402G>T (p.Arg134=)
c.381G>T (p.Arg127=)
c.465G>T (p.Arg155=)
c.495G>T (p.Arg165=)
n.483G>T
c.516G>T (p.Arg172=)
Xg.19351371G>ACA412391212PDHA1c.403G>A (p.Gly135Ser)
c.382G>A (p.Gly128Ser)
c.466G>A (p.Gly156Ser)
c.496G>A (p.Gly166Ser)
n.484G>A
c.517G>A (p.Gly173Ser)
Xg.19351371G>CCA412391214PDHA1c.403G>C (p.Gly135Arg)
c.382G>C (p.Gly128Arg)
c.466G>C (p.Gly156Arg)
c.496G>C (p.Gly166Arg)
n.484G>C
c.517G>C (p.Gly173Arg)
Xg.19351371G>TCA412391215PDHA1c.403G>T (p.Gly135Cys)
c.382G>T (p.Gly128Cys)
c.466G>T (p.Gly156Cys)
c.496G>T (p.Gly166Cys)
n.484G>T
c.517G>T (p.Gly173Cys)
Xg.19351372G>ACA412391222PDHA1c.404G>A (p.Gly135Asp)
c.383G>A (p.Gly128Asp)
c.467G>A (p.Gly156Asp)
c.497G>A (p.Gly166Asp)
n.485G>A
c.518G>A (p.Gly173Asp)
 ClinVar
Xg.19351372G>CCA412391220PDHA1c.404G>C (p.Gly135Ala)
c.383G>C (p.Gly128Ala)
c.467G>C (p.Gly156Ala)
c.497G>C (p.Gly166Ala)
n.485G>C
c.518G>C (p.Gly173Ala)
Xg.19351372G>TCA412391218PDHA1c.404G>T (p.Gly135Val)
c.383G>T (p.Gly128Val)
c.467G>T (p.Gly156Val)
c.497G>T (p.Gly166Val)
n.485G>T
c.518G>T (p.Gly173Val)
Xg.19351373C>ACA515485633PDHA1c.405C>A (p.Gly135=)
c.384C>A (p.Gly128=)
c.468C>A (p.Gly156=)
c.498C>A (p.Gly166=)
n.486C>A
c.519C>A (p.Gly173=)
 gnomAD v4
Xg.19351373C>GCA515485632PDHA1c.405C>G (p.Gly135=)
c.384C>G (p.Gly128=)
c.468C>G (p.Gly156=)
c.498C>G (p.Gly166=)
n.486C>G
c.519C>G (p.Gly173=)
Xg.19351373C>TCA515485631PDHA1c.405C>T (p.Gly135=)
c.384C>T (p.Gly128=)
c.468C>T (p.Gly156=)
c.498C>T (p.Gly166=)
n.486C>T
c.519C>T (p.Gly173=)
Xg.19351374C>ACA412391224PDHA1c.406C>A (p.Leu136Ile)
c.385C>A (p.Leu129Ile)
c.469C>A (p.Leu157Ile)
c.499C>A (p.Leu167Ile)
n.487C>A
c.520C>A (p.Leu174Ile)
Xg.19351374C>GCA412391225PDHA1c.406C>G (p.Leu136Val)
c.385C>G (p.Leu129Val)
c.469C>G (p.Leu157Val)
c.499C>G (p.Leu167Val)
n.487C>G
c.520C>G (p.Leu174Val)
Xg.19351374C>TCA412391227PDHA1c.406C>T (p.Leu136Phe)
c.385C>T (p.Leu129Phe)
c.469C>T (p.Leu157Phe)
c.499C>T (p.Leu167Phe)
n.487C>T
c.520C>T (p.Leu174Phe)
Xg.19351375T>ACA412391229PDHA1c.407T>A (p.Leu136His)
c.386T>A (p.Leu129His)
c.470T>A (p.Leu157His)
c.500T>A (p.Leu167His)
n.488T>A
c.521T>A (p.Leu174His)
Xg.19351375T>CCA412391230PDHA1c.407T>C (p.Leu136Pro)
c.386T>C (p.Leu129Pro)
c.470T>C (p.Leu157Pro)
c.500T>C (p.Leu167Pro)
n.488T>C
c.521T>C (p.Leu174Pro)
Xg.19351375T>GCA412391232PDHA1c.407T>G (p.Leu136Arg)
c.386T>G (p.Leu129Arg)
c.470T>G (p.Leu157Arg)
c.500T>G (p.Leu167Arg)
n.488T>G
c.521T>G (p.Leu174Arg)
Xg.19351376T>ACA515485639PDHA1c.408T>A (p.Leu136=)
c.387T>A (p.Leu129=)
c.471T>A (p.Leu157=)
c.501T>A (p.Leu167=)
n.489T>A
c.522T>A (p.Leu174=)
Xg.19351376T>CCA515485641PDHA1c.408T>C (p.Leu136=)
c.387T>C (p.Leu129=)
c.471T>C (p.Leu157=)
c.501T>C (p.Leu167=)
n.489T>C
c.522T>C (p.Leu174=)
 gnomAD v4
Xg.19351376T>GCA515485640PDHA1c.408T>G (p.Leu136=)
c.387T>G (p.Leu129=)
c.471T>G (p.Leu157=)
c.501T>G (p.Leu167=)
n.489T>G
c.522T>G (p.Leu174=)
Xg.19351377T>ACA412391235PDHA1c.409T>A (p.Ser137Thr)
c.388T>A (p.Ser130Thr)
c.472T>A (p.Ser158Thr)
c.502T>A (p.Ser168Thr)
n.490T>A
c.523T>A (p.Ser175Thr)
Xg.19351377T>CCA412391236PDHA1c.409T>C (p.Ser137Pro)
c.388T>C (p.Ser130Pro)
c.472T>C (p.Ser158Pro)
c.502T>C (p.Ser168Pro)
n.490T>C
c.523T>C (p.Ser175Pro)
Xg.19351377T>GCA412391238PDHA1c.409T>G (p.Ser137Ala)
c.388T>G (p.Ser130Ala)
c.472T>G (p.Ser158Ala)
c.502T>G (p.Ser168Ala)
n.490T>G
c.523T>G (p.Ser175Ala)
Xg.19351378C>ACA412391240PDHA1c.410C>A (p.Ser137Tyr)
c.389C>A (p.Ser130Tyr)
c.473C>A (p.Ser158Tyr)
c.503C>A (p.Ser168Tyr)
n.491C>A
c.524C>A (p.Ser175Tyr)
Xg.19351378C>GCA412391242PDHA1c.410C>G (p.Ser137Cys)
c.389C>G (p.Ser130Cys)
c.473C>G (p.Ser158Cys)
c.503C>G (p.Ser168Cys)
n.491C>G
c.524C>G (p.Ser175Cys)
Xg.19351378C>TCA412391244PDHA1c.410C>T (p.Ser137Phe)
c.389C>T (p.Ser130Phe)
c.473C>T (p.Ser158Phe)
c.503C>T (p.Ser168Phe)
n.491C>T
c.524C>T (p.Ser175Phe)
Xg.19351379delCA2738436662PDHA1c.411del (p.Val138SerfsTer?)
c.390del (p.Val131SerfsTer?)
c.474del (p.Val159SerfsTer?)
c.504del (p.Val169SerfsTer?)
n.492del
c.525del (p.Val176SerfsTer?)
 dbSNP
Xg.19351379C>ACA515485647PDHA1c.411C>A (p.Ser137=)
c.390C>A (p.Ser130=)
c.474C>A (p.Ser158=)
c.504C>A (p.Ser168=)
n.492C>A
c.525C>A (p.Ser175=)
Xg.19351379C=CA2418222121PDHA1c.411C= (p.Ser137=)
c.390C= (p.Ser130=)
c.474C= (p.Ser158=)
c.504C= (p.Ser168=)
n.492C=
c.525C= (p.Ser175=)
Xg.19351379C>GCA515485649PDHA1c.411C>G (p.Ser137=)
c.390C>G (p.Ser130=)
c.474C>G (p.Ser158=)
c.504C>G (p.Ser168=)
n.492C>G
c.525C>G (p.Ser175=)
Xg.19351379C>TCA10363028PDHA1c.411C>T (p.Ser137=)
c.390C>T (p.Ser130=)
c.474C>T (p.Ser158=)
c.504C>T (p.Ser168=)
n.492C>T
c.525C>T (p.Ser175=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.19351380G>ACA10363029PDHA1c.412G>A (p.Val138Ile)
c.391G>A (p.Val131Ile)
c.475G>A (p.Val159Ile)
c.505G>A (p.Val169Ile)
n.493G>A
c.526G>A (p.Val176Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19351380G>CCA412391249PDHA1c.412G>C (p.Val138Leu)
c.391G>C (p.Val131Leu)
c.475G>C (p.Val159Leu)
c.505G>C (p.Val169Leu)
n.493G>C
c.526G>C (p.Val176Leu)
Xg.19351380G=CA2418222122PDHA1c.412G= (p.Val138=)
c.391G= (p.Val131=)
c.475G= (p.Val159=)
c.505G= (p.Val169=)
n.493G=
c.526G= (p.Val176=)
Xg.19351380G>TCA412391248PDHA1c.412G>T (p.Val138Phe)
c.391G>T (p.Val131Phe)
c.475G>T (p.Val159Phe)
c.505G>T (p.Val169Phe)
n.493G>T
c.526G>T (p.Val176Phe)
Xg.19351381T>ACA412391253PDHA1c.413T>A (p.Val138Asp)
c.392T>A (p.Val131Asp)
c.476T>A (p.Val159Asp)
c.506T>A (p.Val169Asp)
n.494T>A
c.527T>A (p.Val176Asp)
Xg.19351381T>CCA412391252PDHA1c.413T>C (p.Val138Ala)
c.392T>C (p.Val131Ala)
c.476T>C (p.Val159Ala)
c.506T>C (p.Val169Ala)
n.494T>C
c.527T>C (p.Val176Ala)
Xg.19351381T>GCA412391255PDHA1c.413T>G (p.Val138Gly)
c.392T>G (p.Val131Gly)
c.476T>G (p.Val159Gly)
c.506T>G (p.Val169Gly)
n.494T>G
c.527T>G (p.Val176Gly)
Xg.19351382C>ACA515485656PDHA1c.414C>A (p.Val138=)
c.393C>A (p.Val131=)
c.477C>A (p.Val159=)
c.507C>A (p.Val169=)
n.495C>A
c.528C>A (p.Val176=)
Xg.19351382C>GCA515485658PDHA1c.414C>G (p.Val138=)
c.393C>G (p.Val131=)
c.477C>G (p.Val159=)
c.507C>G (p.Val169=)
n.495C>G
c.528C>G (p.Val176=)
Xg.19351382C>TCA515485660PDHA1c.414C>T (p.Val138=)
c.393C>T (p.Val131=)
c.477C>T (p.Val159=)
c.507C>T (p.Val169=)
n.495C>T
c.528C>T (p.Val176=)
Xg.19351383delCA2819936434PDHA1c.415del (p.Arg139GlufsTer?)
c.394del (p.Arg132GlufsTer?)
c.478del (p.Arg160GlufsTer?)
c.508del (p.Arg170GlufsTer?)
n.496del
c.529del (p.Arg177GlufsTer?)
Xg.19351383C>ACA515485661PDHA1c.415C>A (p.Arg139=)
c.394C>A (p.Arg132=)
c.478C>A (p.Arg160=)
c.508C>A (p.Arg170=)
n.496C>A
c.529C>A (p.Arg177=)
Xg.19351383C=CA2418222123PDHA1c.415C= (p.Arg139=)
c.394C= (p.Arg132=)
c.478C= (p.Arg160=)
c.508C= (p.Arg170=)
n.496C=
c.529C= (p.Arg177=)
Xg.19351383C>GCA412391259PDHA1c.415C>G (p.Arg139Gly)
c.394C>G (p.Arg132Gly)
c.478C>G (p.Arg160Gly)
c.508C>G (p.Arg170Gly)
n.496C>G
c.529C>G (p.Arg177Gly)
 dbSNP gnomAD v2 gnomAD v4
Xg.19351383C>TCA412391261PDHA1c.415C>T (p.Arg139Ter)
c.394C>T (p.Arg132Ter)
c.478C>T (p.Arg160Ter)
c.508C>T (p.Arg170Ter)
n.496C>T
c.529C>T (p.Arg177Ter)
Xg.19351384G>ACA412391264PDHA1c.416G>A (p.Arg139Gln)
c.395G>A (p.Arg132Gln)
c.479G>A (p.Arg160Gln)
c.509G>A (p.Arg170Gln)
n.497G>A
c.530G>A (p.Arg177Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.19351384G>CCA412391266PDHA1c.416G>C (p.Arg139Pro)
c.395G>C (p.Arg132Pro)
c.479G>C (p.Arg160Pro)
c.509G>C (p.Arg170Pro)
n.497G>C
c.530G>C (p.Arg177Pro)
Xg.19351384G=CA2418222124PDHA1c.416G= (p.Arg139=)
c.395G= (p.Arg132=)
c.479G= (p.Arg160=)
c.509G= (p.Arg170=)
n.497G=
c.530G= (p.Arg177=)
Xg.19351384G>TCA412391269PDHA1c.416G>T (p.Arg139Leu)
c.395G>T (p.Arg132Leu)
c.479G>T (p.Arg160Leu)
c.509G>T (p.Arg170Leu)
n.497G>T
c.530G>T (p.Arg177Leu)
Xg.19351385A=CA2418222125PDHA1c.417A= (p.Arg139=)
c.396A= (p.Arg132=)
c.480A= (p.Arg160=)
c.510A= (p.Arg170=)
n.498A=
c.531A= (p.Arg177=)
Xg.19351385A>CCA10363030PDHA1c.417A>C (p.Arg139=)
c.396A>C (p.Arg132=)
c.480A>C (p.Arg160=)
c.510A>C (p.Arg170=)
n.498A>C
c.531A>C (p.Arg177=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19351385A>GCA515485668PDHA1c.417A>G (p.Arg139=)
c.396A>G (p.Arg132=)
c.480A>G (p.Arg160=)
c.510A>G (p.Arg170=)
n.498A>G
c.531A>G (p.Arg177=)
Xg.19351385A>TCA515485670PDHA1c.417A>T (p.Arg139=)
c.396A>T (p.Arg132=)
c.480A>T (p.Arg160=)
c.510A>T (p.Arg170=)
n.498A>T
c.531A>T (p.Arg177=)
Xg.19351386G>ACA412391283PDHA1c.418G>A (p.Glu140Lys)
c.397G>A (p.Glu133Lys)
c.481G>A (p.Glu161Lys)
c.511G>A (p.Glu171Lys)
n.499G>A
c.532G>A (p.Glu178Lys)
 ClinVar
Xg.19351386G>CCA412391277PDHA1c.418G>C (p.Glu140Gln)
c.397G>C (p.Glu133Gln)
c.481G>C (p.Glu161Gln)
c.511G>C (p.Glu171Gln)
n.499G>C
c.532G>C (p.Glu178Gln)
Xg.19351386G=CA2418222126PDHA1c.418G= (p.Glu140=)
c.397G= (p.Glu133=)
c.481G= (p.Glu161=)
c.511G= (p.Glu171=)
n.499G=
c.532G= (p.Glu178=)
Xg.19351386G>TCA412391280PDHA1c.418G>T (p.Glu140Ter)
c.397G>T (p.Glu133Ter)
c.481G>T (p.Glu161Ter)
c.511G>T (p.Glu171Ter)
n.499G>T
c.532G>T (p.Glu178Ter)
 dbSNP
Xg.19351387A>CCA412391287PDHA1c.419A>C (p.Glu140Ala)
c.398A>C (p.Glu133Ala)
c.482A>C (p.Glu161Ala)
c.512A>C (p.Glu171Ala)
n.500A>C
c.533A>C (p.Glu178Ala)
Xg.19351387A>GCA412391290PDHA1c.419A>G (p.Glu140Gly)
c.398A>G (p.Glu133Gly)
c.482A>G (p.Glu161Gly)
c.512A>G (p.Glu171Gly)
n.500A>G
c.533A>G (p.Glu178Gly)
Xg.19351387A>TCA412391293PDHA1c.419A>T (p.Glu140Val)
c.398A>T (p.Glu133Val)
c.482A>T (p.Glu161Val)
c.512A>T (p.Glu171Val)
n.500A>T
c.533A>T (p.Glu178Val)
Xg.19351388A>CCA412391297PDHA1c.420A>C (p.Glu140Asp)
c.399A>C (p.Glu133Asp)
c.483A>C (p.Glu161Asp)
c.513A>C (p.Glu171Asp)
n.501A>C
c.534A>C (p.Glu178Asp)
Xg.19351388A>GCA515485677PDHA1c.420A>G (p.Glu140=)
c.399A>G (p.Glu133=)
c.483A>G (p.Glu161=)
c.513A>G (p.Glu171=)
n.501A>G
c.534A>G (p.Glu178=)
Xg.19351388A>TCA412391300PDHA1c.420A>T (p.Glu140Asp)
c.399A>T (p.Glu133Asp)
c.483A>T (p.Glu161Asp)
c.513A>T (p.Glu171Asp)
n.501A>T
c.534A>T (p.Glu178Asp)
Xg.19351389A>CCA412391304PDHA1c.421A>C (p.Ile141Leu)
c.400A>C (p.Ile134Leu)
c.484A>C (p.Ile162Leu)
c.514A>C (p.Ile172Leu)
n.502A>C
c.535A>C (p.Ile179Leu)
Xg.19351389A>GCA412391310PDHA1c.421A>G (p.Ile141Val)
c.400A>G (p.Ile134Val)
c.484A>G (p.Ile162Val)
c.514A>G (p.Ile172Val)
n.502A>G
c.535A>G (p.Ile179Val)
Xg.19351389A>TCA412391307PDHA1c.421A>T (p.Ile141Phe)
c.400A>T (p.Ile134Phe)
c.484A>T (p.Ile162Phe)
c.514A>T (p.Ile172Phe)
n.502A>T
c.535A>T (p.Ile179Phe)
Xg.19351390T>ACA412391312PDHA1c.422T>A (p.Ile141Asn)
c.401T>A (p.Ile134Asn)
c.485T>A (p.Ile162Asn)
c.515T>A (p.Ile172Asn)
n.503T>A
c.536T>A (p.Ile179Asn)
Xg.19351390T>CCA412391314PDHA1c.422T>C (p.Ile141Thr)
c.401T>C (p.Ile134Thr)
c.485T>C (p.Ile162Thr)
c.515T>C (p.Ile172Thr)
n.503T>C
c.536T>C (p.Ile179Thr)
Xg.19351390T>GCA412391322PDHA1c.422T>G (p.Ile141Ser)
c.401T>G (p.Ile134Ser)
c.485T>G (p.Ile162Ser)
c.515T>G (p.Ile172Ser)
n.503T>G
c.536T>G (p.Ile179Ser)
Xg.19351391T>ACA515485687PDHA1c.423T>A (p.Ile141=)
c.402T>A (p.Ile134=)
c.486T>A (p.Ile162=)
c.516T>A (p.Ile172=)
n.504T>A
c.537T>A (p.Ile179=)
Xg.19351391T>CCA515485684PDHA1c.423T>C (p.Ile141=)
c.402T>C (p.Ile134=)
c.486T>C (p.Ile162=)
c.516T>C (p.Ile172=)
n.504T>C
c.537T>C (p.Ile179=)
 gnomAD v4
Xg.19351391T>GCA412391325PDHA1c.423T>G (p.Ile141Met)
c.402T>G (p.Ile134Met)
c.486T>G (p.Ile162Met)
c.516T>G (p.Ile172Met)
n.504T>G
c.537T>G (p.Ile179Met)
Xg.19351392C>ACA412391331PDHA1c.424C>A (p.Leu142Ile)
c.403C>A (p.Leu135Ile)
c.487C>A (p.Leu163Ile)
c.517C>A (p.Leu173Ile)
n.505C>A
c.538C>A (p.Leu180Ile)
 COSMIC COSMIC COSMIC COSMIC
Xg.19351392C>GCA412391333PDHA1c.424C>G (p.Leu142Val)
c.403C>G (p.Leu135Val)
c.487C>G (p.Leu163Val)
c.517C>G (p.Leu173Val)
n.505C>G
c.538C>G (p.Leu180Val)
Xg.19351392C>TCA412391338PDHA1c.424C>T (p.Leu142Phe)
c.403C>T (p.Leu135Phe)
c.487C>T (p.Leu163Phe)
c.517C>T (p.Leu173Phe)
n.505C>T
c.538C>T (p.Leu180Phe)
Xg.19351393T>ACA412391342PDHA1c.425T>A (p.Leu142His)
c.404T>A (p.Leu135His)
c.488T>A (p.Leu163His)
c.518T>A (p.Leu173His)
n.506T>A
c.539T>A (p.Leu180His)
Xg.19351393T>CCA412391344PDHA1c.425T>C (p.Leu142Pro)
c.404T>C (p.Leu135Pro)
c.488T>C (p.Leu163Pro)
c.518T>C (p.Leu173Pro)
n.506T>C
c.539T>C (p.Leu180Pro)
Xg.19351393T>GCA412391347PDHA1c.425T>G (p.Leu142Arg)
c.404T>G (p.Leu135Arg)
c.488T>G (p.Leu163Arg)
c.518T>G (p.Leu173Arg)
n.506T>G
c.539T>G (p.Leu180Arg)
Xg.19351394C>ACA515485693PDHA1c.426C>A (p.Leu142=)
c.405C>A (p.Leu135=)
c.489C>A (p.Leu163=)
c.519C>A (p.Leu173=)
n.507C>A
c.540C>A (p.Leu180=)
Xg.19351394C=CA2418222127PDHA1c.426C= (p.Leu142=)
c.405C= (p.Leu135=)
c.489C= (p.Leu163=)
c.519C= (p.Leu173=)
n.507C=
c.540C= (p.Leu180=)
Xg.19351394C>GCA515485695PDHA1c.426C>G (p.Leu142=)
c.405C>G (p.Leu135=)
c.489C>G (p.Leu163=)
c.519C>G (p.Leu173=)
n.507C>G
c.540C>G (p.Leu180=)
 gnomAD v4
Xg.19351394C>TCA515485696PDHA1c.426C>T (p.Leu142=)
c.405C>T (p.Leu135=)
c.489C>T (p.Leu163=)
c.519C>T (p.Leu173=)
n.507C>T
c.540C>T (p.Leu180=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.19351395G>ACA10363031PDHA1c.427G>A (p.Ala143Thr)
c.406G>A (p.Ala136Thr)
c.490G>A (p.Ala164Thr)
c.520G>A (p.Ala174Thr)
n.508G>A
c.541G>A (p.Ala181Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.19351395G>CCA412391354PDHA1c.427G>C (p.Ala143Pro)
c.406G>C (p.Ala136Pro)
c.490G>C (p.Ala164Pro)
c.520G>C (p.Ala174Pro)
n.508G>C
c.541G>C (p.Ala181Pro)
Xg.19351395G=CA2418222128PDHA1c.427G= (p.Ala143=)
c.406G= (p.Ala136=)
c.490G= (p.Ala164=)
c.520G= (p.Ala174=)
n.508G=
c.541G= (p.Ala181=)
Xg.19351395G>TCA412391351PDHA1c.427G>T (p.Ala143Ser)
c.406G>T (p.Ala136Ser)
c.490G>T (p.Ala164Ser)
c.520G>T (p.Ala174Ser)
n.508G>T
c.541G>T (p.Ala181Ser)
Xg.19351396C>ACA412391360PDHA1c.428C>A (p.Ala143Glu)
c.407C>A (p.Ala136Glu)
c.491C>A (p.Ala164Glu)
c.521C>A (p.Ala174Glu)
n.509C>A
c.542C>A (p.Ala181Glu)
Xg.19351396C>GCA412391363PDHA1c.428C>G (p.Ala143Gly)
c.407C>G (p.Ala136Gly)
c.491C>G (p.Ala164Gly)
c.521C>G (p.Ala174Gly)
n.509C>G
c.542C>G (p.Ala181Gly)
 gnomAD v4
Xg.19351396C>TCA412391368PDHA1c.428C>T (p.Ala143Val)
c.407C>T (p.Ala136Val)
c.491C>T (p.Ala164Val)
c.521C>T (p.Ala174Val)
n.509C>T
c.542C>T (p.Ala181Val)
Xg.19351397A>CCA515485703PDHA1c.429A>C (p.Ala143=)
c.408A>C (p.Ala136=)
c.492A>C (p.Ala164=)
c.522A>C (p.Ala174=)
n.510A>C
c.543A>C (p.Ala181=)
Xg.19351397A>GCA515485705PDHA1c.429A>G (p.Ala143=)
c.408A>G (p.Ala136=)
c.492A>G (p.Ala164=)
c.522A>G (p.Ala174=)
n.510A>G
c.543A>G (p.Ala181=)
Xg.19351397A>TCA515485707PDHA1c.429A>T (p.Ala143=)
c.408A>T (p.Ala136=)
c.492A>T (p.Ala164=)
c.522A>T (p.Ala174=)
n.510A>T
c.543A>T (p.Ala181=)
Xg.19351398G>ACA412391372PDHA1c.430G>A (p.Glu144Lys)
c.409G>A (p.Glu137Lys)
c.493G>A (p.Glu165Lys)
c.523G>A (p.Glu175Lys)
n.511G>A
c.544G>A (p.Glu182Lys)
 ClinVar dbSNP
Xg.19351398G>CCA412391376PDHA1c.430G>C (p.Glu144Gln)
c.409G>C (p.Glu137Gln)
c.493G>C (p.Glu165Gln)
c.523G>C (p.Glu175Gln)
n.511G>C
c.544G>C (p.Glu182Gln)
Xg.19351398G=CA2418222129PDHA1c.430G= (p.Glu144=)
c.409G= (p.Glu137=)
c.493G= (p.Glu165=)
c.523G= (p.Glu175=)
n.511G=
c.544G= (p.Glu182=)
Xg.19351398G>TCA412391378PDHA1c.430G>T (p.Glu144Ter)
c.409G>T (p.Glu137Ter)
c.493G>T (p.Glu165Ter)
c.523G>T (p.Glu175Ter)
n.511G>T
c.544G>T (p.Glu182Ter)
Xg.19351399A>CCA412391388PDHA1c.431A>C (p.Glu144Ala)
c.410A>C (p.Glu137Ala)
c.494A>C (p.Glu165Ala)
c.524A>C (p.Glu175Ala)
n.512A>C
c.545A>C (p.Glu182Ala)
Xg.19351399A>GCA412391382PDHA1c.431A>G (p.Glu144Gly)
c.410A>G (p.Glu137Gly)
c.494A>G (p.Glu165Gly)
c.524A>G (p.Glu175Gly)
n.512A>G
c.545A>G (p.Glu182Gly)
Xg.19351399A>TCA412391385PDHA1c.431A>T (p.Glu144Val)
c.410A>T (p.Glu137Val)
c.494A>T (p.Glu165Val)
c.524A>T (p.Glu175Val)
n.512A>T
c.545A>T (p.Glu182Val)
Xg.19351400G>ACA515485713PDHA1c.432G>A (p.Glu144=)
c.411G>A (p.Glu137=)
c.495G>A (p.Glu165=)
c.525G>A (p.Glu175=)
n.513G>A
c.546G>A (p.Glu182=)
 ClinVar dbSNP gnomAD v2
Xg.19351400G>CCA412391392PDHA1c.432G>C (p.Glu144Asp)
c.411G>C (p.Glu137Asp)
c.495G>C (p.Glu165Asp)
c.525G>C (p.Glu175Asp)
n.513G>C
c.546G>C (p.Glu182Asp)
Xg.19351400G=CA2418222130PDHA1c.432G= (p.Glu144=)
c.411G= (p.Glu137=)
c.495G= (p.Glu165=)
c.525G= (p.Glu175=)
n.513G=
c.546G= (p.Glu182=)
Xg.19351400G>TCA412391394PDHA1c.432G>T (p.Glu144Asp)
c.411G>T (p.Glu137Asp)
c.495G>T (p.Glu165Asp)
c.525G>T (p.Glu175Asp)
n.513G>T
c.546G>T (p.Glu182Asp)
Xg.19351401C>ACA412391397PDHA1c.433C>A (p.Leu145Ile)
c.412C>A (p.Leu138Ile)
c.496C>A (p.Leu166Ile)
c.526C>A (p.Leu176Ile)
n.514C>A
c.547C>A (p.Leu183Ile)
Xg.19351401C>GCA412391399PDHA1c.433C>G (p.Leu145Val)
c.412C>G (p.Leu138Val)
c.496C>G (p.Leu166Val)
c.526C>G (p.Leu176Val)
n.514C>G
c.547C>G (p.Leu183Val)
Xg.19351401C>TCA412391402PDHA1c.433C>T (p.Leu145Phe)
c.412C>T (p.Leu138Phe)
c.496C>T (p.Leu166Phe)
c.526C>T (p.Leu176Phe)
n.514C>T
c.547C>T (p.Leu183Phe)
Xg.19351402T>ACA412391409PDHA1c.434T>A (p.Leu145His)
c.413T>A (p.Leu138His)
c.497T>A (p.Leu166His)
c.527T>A (p.Leu176His)
n.515T>A
c.548T>A (p.Leu183His)
Xg.19351402T>CCA412391415PDHA1c.434T>C (p.Leu145Pro)
c.413T>C (p.Leu138Pro)
c.497T>C (p.Leu166Pro)
c.527T>C (p.Leu176Pro)
n.515T>C
c.548T>C (p.Leu183Pro)
Xg.19351402T>GCA412391411PDHA1c.434T>G (p.Leu145Arg)
c.413T>G (p.Leu138Arg)
c.497T>G (p.Leu166Arg)
c.527T>G (p.Leu176Arg)
n.515T>G
c.548T>G (p.Leu183Arg)
Xg.19351403delCA2579566226PDHA1c.435del (p.Thr146GlnfsTer?)
c.414del (p.Thr139GlnfsTer?)
c.498del (p.Thr167GlnfsTer?)
c.528del (p.Thr177GlnfsTer?)
n.516del
c.549del (p.Thr184GlnfsTer?)
Xg.19351403T>ACA515485720PDHA1c.435T>A (p.Leu145=)
c.414T>A (p.Leu138=)
c.498T>A (p.Leu166=)
c.528T>A (p.Leu176=)
n.516T>A
c.549T>A (p.Leu183=)
Xg.19351403T>CCA515485723PDHA1c.435T>C (p.Leu145=)
c.414T>C (p.Leu138=)
c.498T>C (p.Leu166=)
c.528T>C (p.Leu176=)
n.516T>C
c.549T>C (p.Leu183=)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.19351403T>GCA515485722PDHA1c.435T>G (p.Leu145=)
c.414T>G (p.Leu138=)
c.498T>G (p.Leu166=)
c.528T>G (p.Leu176=)
n.516T>G
c.549T>G (p.Leu183=)
Xg.19351404A>CCA412391421PDHA1c.436A>C (p.Thr146Pro)
c.415A>C (p.Thr139Pro)
c.499A>C (p.Thr167Pro)
c.529A>C (p.Thr177Pro)
n.517A>C
c.550A>C (p.Thr184Pro)
Xg.19351404A>GCA412391423PDHA1c.436A>G (p.Thr146Ala)
c.415A>G (p.Thr139Ala)
c.499A>G (p.Thr167Ala)
c.529A>G (p.Thr177Ala)
n.517A>G
c.550A>G (p.Thr184Ala)
Xg.19351404A>TCA412391426PDHA1c.436A>T (p.Thr146Ser)
c.415A>T (p.Thr139Ser)
c.499A>T (p.Thr167Ser)
c.529A>T (p.Thr177Ser)
n.517A>T
c.550A>T (p.Thr184Ser)
Xg.19351405C>ACA412391431PDHA1c.437C>A (p.Thr146Lys)
c.416C>A (p.Thr139Lys)
c.500C>A (p.Thr167Lys)
c.530C>A (p.Thr177Lys)
n.518C>A
c.551C>A (p.Thr184Lys)
 gnomAD v4
Xg.19351405C>GCA412391433PDHA1c.437C>G (p.Thr146Arg)
c.416C>G (p.Thr139Arg)
c.500C>G (p.Thr167Arg)
c.530C>G (p.Thr177Arg)
n.518C>G
c.551C>G (p.Thr184Arg)
Xg.19351405C>TCA412391436PDHA1c.437C>T (p.Thr146Ile)
c.416C>T (p.Thr139Ile)
c.500C>T (p.Thr167Ile)
c.530C>T (p.Thr177Ile)
n.518C>T
c.551C>T (p.Thr184Ile)
Xg.19351406A>CCA515485729PDHA1c.438A>C (p.Thr146=)
c.417A>C (p.Thr139=)
c.501A>C (p.Thr167=)
c.531A>C (p.Thr177=)
n.519A>C
c.552A>C (p.Thr184=)
Xg.19351406A>GCA515485731PDHA1c.438A>G (p.Thr146=)
c.417A>G (p.Thr139=)
c.501A>G (p.Thr167=)
c.531A>G (p.Thr177=)
n.519A>G
c.552A>G (p.Thr184=)
 COSMIC COSMIC COSMIC COSMIC
Xg.19351406A>TCA515485733PDHA1c.438A>T (p.Thr146=)
c.417A>T (p.Thr139=)
c.501A>T (p.Thr167=)
c.531A>T (p.Thr177=)
n.519A>T
c.552A>T (p.Thr184=)
Xg.19351407G>ACA412391441PDHA1c.439G>A (p.Gly147Arg)
c.418G>A (p.Gly140Arg)
c.502G>A (p.Gly168Arg)
c.532G>A (p.Gly178Arg)
c.418G>A (p.Gly140Ser)
n.520G>A
c.553G>A (p.Gly185Arg)
Xg.19351407G>CCA412391444PDHA1c.439G>C (p.Gly147Arg)
c.418G>C (p.Gly140Arg)
c.502G>C (p.Gly168Arg)
c.532G>C (p.Gly178Arg)
n.520G>C
c.553G>C (p.Gly185Arg)
Xg.19351407G>TCA412391446PDHA1c.439G>T (p.Gly147Ter)
c.418G>T (p.Gly140Ter)
c.502G>T (p.Gly168Ter)
c.532G>T (p.Gly178Ter)
c.418G>T (p.Gly140Trp)
c.418G>T (p.Gly140Cys)
n.520G>T
c.553G>T (p.Gly185Ter)
Xg.19351408G>ACA412391451PDHA1c.439+1G>A (n.439+1G>A)
c.418+1G>A (n.418+1G>A)
c.502+1G>A (n.502+1G>A)
c.532+1G>A (n.532+1G>A)
n.521G>A
c.553+1G>A (n.553+1G>A)
Xg.19351408G>CCA412391453PDHA1c.439+1G>C (n.439+1G>C)
c.418+1G>C (n.418+1G>C)
c.502+1G>C (n.502+1G>C)
c.532+1G>C (n.532+1G>C)
n.521G>C
c.553+1G>C (n.553+1G>C)
Xg.19351408G>TCA412391456PDHA1c.439+1G>T (n.439+1G>T)
c.418+1G>T (n.418+1G>T)
c.502+1G>T (n.502+1G>T)
c.532+1G>T (n.532+1G>T)
n.521G>T
c.553+1G>T (n.553+1G>T)
Xg.19351409T>ACA412391466PDHA1c.439+2T>A (n.439+2T>A)
c.418+2T>A (n.418+2T>A)
c.502+2T>A (n.502+2T>A)
c.532+2T>A (n.532+2T>A)
n.522T>A
c.553+2T>A (n.553+2T>A)
Xg.19351409T>CCA412391469PDHA1c.439+2T>C (n.439+2T>C)
c.418+2T>C (n.418+2T>C)
c.502+2T>C (n.502+2T>C)
c.532+2T>C (n.532+2T>C)
n.522T>C
c.553+2T>C (n.553+2T>C)
Xg.19351409T>GCA412391464PDHA1c.439+2T>G (n.439+2T>G)
c.418+2T>G (n.418+2T>G)
c.502+2T>G (n.502+2T>G)
c.532+2T>G (n.532+2T>G)
n.522T>G
c.553+2T>G (n.553+2T>G)
Xg.19351411T>CCA640521258PDHA1c.439+4T>C (n.439+4T>C)
c.418+4T>C (n.418+4T>C)
c.502+4T>C (n.502+4T>C)
c.532+4T>C (n.532+4T>C)
n.524T>C
c.553+4T>C (n.553+4T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.19351411T=CA2418222131PDHA1c.439+4T= (n.439+4T=)
c.418+4T= (n.418+4T=)
c.502+4T= (n.502+4T=)
c.532+4T= (n.532+4T=)
n.524T=
c.553+4T= (n.553+4T=)
Xg.19351412G>CCA2819936436PDHA1c.439+5G>C (n.439+5G>C)
c.418+5G>C (n.418+5G>C)
c.502+5G>C (n.502+5G>C)
c.532+5G>C (n.532+5G>C)
n.525G>C
c.553+5G>C (n.553+5G>C)
Xg.19351413C>ACA2579566227PDHA1c.439+6C>A (n.439+6C>A)
c.418+6C>A (n.418+6C>A)
c.502+6C>A (n.502+6C>A)
c.532+6C>A (n.532+6C>A)
n.526C>A
c.553+6C>A (n.553+6C>A)
Xg.19351414T>CCA2693249840PDHA1c.439+7T>C (n.439+7T>C)
c.418+7T>C (n.418+7T>C)
c.502+7T>C (n.502+7T>C)
c.532+7T>C (n.532+7T>C)
n.527T>C
c.553+7T>C (n.553+7T>C)
 gnomAD v4
Xg.19351415G>ACA10363032PDHA1c.439+8G>A (n.439+8G>A)
c.418+8G>A (n.418+8G>A)
c.502+8G>A (n.502+8G>A)
c.532+8G>A (n.532+8G>A)
n.528G>A
c.553+8G>A (n.553+8G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19351415G>CCA873736538PDHA1c.439+8G>C (n.439+8G>C)
c.418+8G>C (n.418+8G>C)
c.502+8G>C (n.502+8G>C)
c.532+8G>C (n.532+8G>C)
n.528G>C
c.553+8G>C (n.553+8G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.19351415G=CA2418222132PDHA1c.439+8G= (n.439+8G=)
c.418+8G= (n.418+8G=)
c.502+8G= (n.502+8G=)
c.532+8G= (n.532+8G=)
n.528G=
c.553+8G= (n.553+8G=)
Xg.19351418_19351420delCA2693249841PDHA1c.439+11_439+13del (n.439+11_439+13del)
c.418+11_418+13del (n.418+11_418+13del)
c.502+11_502+13del (n.502+11_502+13del)
c.532+11_532+13del (n.532+11_532+13del)
n.531_533del
c.553+11_553+13del (n.553+11_553+13del)
 gnomAD v4
Xg.19351422delCA2693249842PDHA1c.439+15del (n.439+15del)
c.418+15del (n.418+15del)
c.502+15del (n.502+15del)
c.532+15del (n.532+15del)
n.535del
c.553+15del (n.553+15del)
 gnomAD v4
Xg.19351421T>ACA2542855819PDHA1c.439+14T>A (n.439+14T>A)
c.418+14T>A (n.418+14T>A)
c.502+14T>A (n.502+14T>A)
c.532+14T>A (n.532+14T>A)
n.534T>A
c.553+14T>A (n.553+14T>A)
Xg.19351422T>ACA2418222133PDHA1c.439+15T>A (n.439+15T>A)
c.418+15T>A (n.418+15T>A)
c.502+15T>A (n.502+15T>A)
c.532+15T>A (n.532+15T>A)
n.535T>A
c.553+15T>A (n.553+15T>A)
 dbSNP gnomAD v4
Xg.19351422T>CCA2819936438PDHA1c.439+15T>C (n.439+15T>C)
c.418+15T>C (n.418+15T>C)
c.502+15T>C (n.502+15T>C)
c.532+15T>C (n.532+15T>C)
n.535T>C
c.553+15T>C (n.553+15T>C)
Xg.19351422T=CA2418222134PDHA1c.439+15T= (n.439+15T=)
c.418+15T= (n.418+15T=)
c.502+15T= (n.502+15T=)
c.532+15T= (n.532+15T=)
n.535T=
c.553+15T= (n.553+15T=)
Xg.19351424C>ACA2693249843PDHA1c.439+17C>A (n.439+17C>A)
c.418+17C>A (n.418+17C>A)
c.502+17C>A (n.502+17C>A)
c.532+17C>A (n.532+17C>A)
n.537C>A
c.553+17C>A (n.553+17C>A)
 gnomAD v4
Xg.19351426G>ACA2693249844PDHA1c.439+19G>A (n.439+19G>A)
c.418+19G>A (n.418+19G>A)
c.502+19G>A (n.502+19G>A)
c.532+19G>A (n.532+19G>A)
n.539G>A
c.553+19G>A (n.553+19G>A)
 gnomAD v4
Xg.19351426G>TCA2506913892PDHA1c.439+19G>T (n.439+19G>T)
c.418+19G>T (n.418+19G>T)
c.502+19G>T (n.502+19G>T)
c.532+19G>T (n.532+19G>T)
n.539G>T
c.553+19G>T (n.553+19G>T)
Xg.19351428A>GCA2693249845PDHA1c.439+21A>G (n.439+21A>G)
c.418+21A>G (n.418+21A>G)
c.502+21A>G (n.502+21A>G)
c.532+21A>G (n.532+21A>G)
n.541A>G
c.553+21A>G (n.553+21A>G)
 gnomAD v4
Xg.19351433delCA2693249846PDHA1c.439+26del (n.439+26del)
c.418+26del (n.418+26del)
c.502+26del (n.502+26del)
c.532+26del (n.532+26del)
n.546del
c.553+26del (n.553+26del)
 gnomAD v4
Xg.19351432G>ACA2418222136PDHA1c.439+25G>A (n.439+25G>A)
c.418+25G>A (n.418+25G>A)
c.502+25G>A (n.502+25G>A)
c.532+25G>A (n.532+25G>A)
n.545G>A
c.553+25G>A (n.553+25G>A)
 dbSNP gnomAD v4
Xg.19351432G=CA2418222135PDHA1c.439+25G= (n.439+25G=)
c.418+25G= (n.418+25G=)
c.502+25G= (n.502+25G=)
c.532+25G= (n.532+25G=)
n.545G=
c.553+25G= (n.553+25G=)
Xg.19351433G>ACA2531052471PDHA1c.439+26G>A (n.439+26G>A)
c.418+26G>A (n.418+26G>A)
c.502+26G>A (n.502+26G>A)
c.532+26G>A (n.532+26G>A)
n.546G>A
c.553+26G>A (n.553+26G>A)
 gnomAD v4
Xg.19351434A>GCA2819936440PDHA1c.439+27A>G (n.439+27A>G)
c.418+27A>G (n.418+27A>G)
c.502+27A>G (n.502+27A>G)
c.532+27A>G (n.532+27A>G)
n.547A>G
c.553+27A>G (n.553+27A>G)
Xg.19351438G>ACA2506127265PDHA1c.439+31G>A (n.439+31G>A)
c.418+31G>A (n.418+31G>A)
c.502+31G>A (n.502+31G>A)
c.532+31G>A (n.532+31G>A)
n.551G>A
c.553+31G>A (n.553+31G>A)
Xg.19351439A>GCA2693249847PDHA1c.439+32A>G (n.439+32A>G)
c.418+32A>G (n.418+32A>G)
c.502+32A>G (n.502+32A>G)
c.532+32A>G (n.532+32A>G)
n.552A>G
c.553+32A>G (n.553+32A>G)
 gnomAD v4
Xg.19351440G>ACA2693249848PDHA1c.439+33G>A (n.439+33G>A)
c.418+33G>A (n.418+33G>A)
c.502+33G>A (n.502+33G>A)
c.532+33G>A (n.532+33G>A)
n.553G>A
c.553+33G>A (n.553+33G>A)
 gnomAD v4
Xg.19351441T>CCA2693249849PDHA1c.439+34T>C (n.439+34T>C)
c.418+34T>C (n.418+34T>C)
c.502+34T>C (n.502+34T>C)
c.532+34T>C (n.532+34T>C)
n.554T>C
c.553+34T>C (n.553+34T>C)
 gnomAD v4
Xg.19351441T>GCA10363033PDHA1c.439+34T>G (n.439+34T>G)
c.418+34T>G (n.418+34T>G)
c.502+34T>G (n.502+34T>G)
c.532+34T>G (n.532+34T>G)
n.554T>G
c.553+34T>G (n.553+34T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19351441T=CA2418222137PDHA1c.439+34T= (n.439+34T=)
c.418+34T= (n.418+34T=)
c.502+34T= (n.502+34T=)
c.532+34T= (n.532+34T=)
n.554T=
c.553+34T= (n.553+34T=)
Xg.19351442G>ACA2504608840PDHA1c.439+35G>A (n.439+35G>A)
c.418+35G>A (n.418+35G>A)
c.502+35G>A (n.502+35G>A)
c.532+35G>A (n.532+35G>A)
n.555G>A
c.553+35G>A (n.553+35G>A)
 gnomAD v4
Xg.19351443delCA2579566228PDHA1c.439+36del (n.439+36del)
c.418+36del (n.418+36del)
c.502+36del (n.502+36del)
c.532+36del (n.532+36del)
n.556del
c.553+36del (n.553+36del)
Xg.19351442_19351470delinsGGATTAAGTTTTTAAATATCTGTCATTAACA2418222138PDHA1c.439+35_439+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA (n.439+35_439+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA)
c.418+35_418+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA (n.418+35_418+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA)
c.502+35_502+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA (n.502+35_502+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA)
c.532+35_532+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA (n.532+35_532+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA)
n.555_583delinsGGATTAAGTTTTTAAATATCTGTCATTAA
c.553+35_553+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA (n.553+35_553+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA)
Xg.19351443G>ACA2504332972PDHA1c.439+36G>A (n.439+36G>A)
c.418+36G>A (n.418+36G>A)
c.502+36G>A (n.502+36G>A)
c.532+36G>A (n.532+36G>A)
n.556G>A
c.553+36G>A (n.553+36G>A)
 gnomAD v4
Xg.19351446_19351473delCA873736571PDHA1c.439+39_439+66del (n.439+39_439+66del)
c.418+39_418+66del (n.418+39_418+66del)
c.502+39_502+66del (n.502+39_502+66del)
c.532+39_532+66del (n.532+39_532+66del)
n.559_586del
c.553+39_553+66del (n.553+39_553+66del)
 dbSNP gnomAD v3 gnomAD v4
Xg.19351445T>CCA2693249850PDHA1c.439+38T>C (n.439+38T>C)
c.418+38T>C (n.418+38T>C)
c.502+38T>C (n.502+38T>C)
c.532+38T>C (n.532+38T>C)
n.558T>C
c.553+38T>C (n.553+38T>C)
 gnomAD v4
Xg.19351446T>CCA2693249851PDHA1c.439+39T>C (n.439+39T>C)
c.418+39T>C (n.418+39T>C)
c.502+39T>C (n.502+39T>C)
c.532+39T>C (n.532+39T>C)
n.559T>C
c.553+39T>C (n.553+39T>C)
 gnomAD v4
Xg.19351447A=CA2418222139PDHA1c.439+40A= (n.439+40A=)
c.418+40A= (n.418+40A=)
c.502+40A= (n.502+40A=)
c.532+40A= (n.532+40A=)
n.560A=
c.553+40A= (n.553+40A=)
Xg.19351447A>GCA10363034PDHA1c.439+40A>G (n.439+40A>G)
c.418+40A>G (n.418+40A>G)
c.502+40A>G (n.502+40A>G)
c.532+40A>G (n.532+40A>G)
n.560A>G
c.553+40A>G (n.553+40A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19351448A>GCA2819936441PDHA1c.439+41A>G (n.439+41A>G)
c.418+41A>G (n.418+41A>G)
c.502+41A>G (n.502+41A>G)
c.532+41A>G (n.532+41A>G)
n.561A>G
c.553+41A>G (n.553+41A>G)
Xg.19351450T>ACA2579566229PDHA1c.439+43T>A (n.439+43T>A)
c.418+43T>A (n.418+43T>A)
c.502+43T>A (n.502+43T>A)
c.532+43T>A (n.532+43T>A)
n.563T>A
c.553+43T>A (n.553+43T>A)
Xg.19351450T>CCA10363035PDHA1c.439+43T>C (n.439+43T>C)
c.418+43T>C (n.418+43T>C)
c.502+43T>C (n.502+43T>C)
c.532+43T>C (n.532+43T>C)
n.563T>C
c.553+43T>C (n.553+43T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19351450T=CA2418222140PDHA1c.439+43T= (n.439+43T=)
c.418+43T= (n.418+43T=)
c.502+43T= (n.502+43T=)
c.532+43T= (n.532+43T=)
n.563T=
c.553+43T= (n.553+43T=)
Xg.19351453T>GCA10363036PDHA1c.439+46T>G (n.439+46T>G)
c.418+46T>G (n.418+46T>G)
c.502+46T>G (n.502+46T>G)
c.532+46T>G (n.532+46T>G)
n.566T>G
c.553+46T>G (n.553+46T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19351453T=CA2418222141PDHA1c.439+46T= (n.439+46T=)
c.418+46T= (n.418+46T=)
c.502+46T= (n.502+46T=)
c.532+46T= (n.532+46T=)
n.566T=
c.553+46T= (n.553+46T=)
Xg.19351454T>CCA2693249852PDHA1c.439+47T>C (n.439+47T>C)
c.418+47T>C (n.418+47T>C)
c.502+47T>C (n.502+47T>C)
c.532+47T>C (n.532+47T>C)
n.567T>C
c.553+47T>C (n.553+47T>C)
 gnomAD v4
Xg.19351456A>GCA2693249853PDHA1c.439+49A>G (n.439+49A>G)
c.418+49A>G (n.418+49A>G)
c.502+49A>G (n.502+49A>G)
c.532+49A>G (n.532+49A>G)
n.569A>G
c.553+49A>G (n.553+49A>G)
 gnomAD v4
Xg.19351457A=CA2418222142PDHA1c.439+50A= (n.439+50A=)
c.418+50A= (n.418+50A=)
c.502+50A= (n.502+50A=)
c.532+50A= (n.532+50A=)
n.570A=
c.553+50A= (n.553+50A=)
Xg.19351457A>GCA640521263PDHA1c.439+50A>G (n.439+50A>G)
c.418+50A>G (n.418+50A>G)
c.502+50A>G (n.502+50A>G)
c.532+50A>G (n.532+50A>G)
n.570A>G
c.553+50A>G (n.553+50A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.19351458T>CCA2693249854PDHA1c.439+51T>C (n.439+51T>C)
c.418+51T>C (n.418+51T>C)
c.502+51T>C (n.502+51T>C)
c.532+51T>C (n.532+51T>C)
n.571T>C
c.553+51T>C (n.553+51T>C)
 gnomAD v4
Xg.19351460T>CCA2693249855PDHA1c.439+53T>C (n.439+53T>C)
c.418+53T>C (n.418+53T>C)
c.502+53T>C (n.502+53T>C)
c.532+53T>C (n.532+53T>C)
n.573T>C
c.553+53T>C (n.553+53T>C)
 gnomAD v4
Xg.19351461C>ACA2693249856PDHA1c.439+54C>A (n.439+54C>A)
c.418+54C>A (n.418+54C>A)
c.502+54C>A (n.502+54C>A)
c.532+54C>A (n.532+54C>A)
n.574C>A
c.553+54C>A (n.553+54C>A)
 gnomAD v4
Xg.19351461C>GCA2693249857PDHA1c.439+54C>G (n.439+54C>G)
c.418+54C>G (n.418+54C>G)
c.502+54C>G (n.502+54C>G)
c.532+54C>G (n.532+54C>G)
n.574C>G
c.553+54C>G (n.553+54C>G)
 gnomAD v4

Number of alleles fetched