Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.34966693G>ACA380120591PDHXc.515G>A (p.Arg172Lys)
c.695G>A (p.Arg232Lys)
c.343-17877G>A (n.343-17877G>A)
c.650G>A (p.Arg217Lys)
11g.34966693G>CCA380120592PDHXc.515G>C (p.Arg172Thr)
c.695G>C (p.Arg232Thr)
c.343-17877G>C (n.343-17877G>C)
c.650G>C (p.Arg217Thr)
11g.34966693G>TCA380120593PDHXc.515G>T (p.Arg172Ile)
c.695G>T (p.Arg232Ile)
c.343-17877G>T (n.343-17877G>T)
c.650G>T (p.Arg217Ile)
11g.34966694A=CA1963501673PDHXc.516A= (p.Arg172=)
c.696A= (p.Arg232=)
c.343-17876A= (n.343-17876A=)
c.651A= (p.Arg217=)
11g.34966694A>CCA380120594PDHXc.516A>C (p.Arg172Ser)
c.696A>C (p.Arg232Ser)
c.343-17876A>C (n.343-17876A>C)
c.651A>C (p.Arg217Ser)
11g.34966694A>GCA473615431PDHXc.516A>G (p.Arg172=)
c.696A>G (p.Arg232=)
c.343-17876A>G (n.343-17876A>G)
c.651A>G (p.Arg217=)
 dbSNP
11g.34966694A>TCA380120595PDHXc.516A>T (p.Arg172Ser)
c.696A>T (p.Arg232Ser)
c.343-17876A>T (n.343-17876A>T)
c.651A>T (p.Arg217Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.34966695C>ACA380120596PDHXc.517C>A (p.Pro173Thr)
c.697C>A (p.Pro233Thr)
c.343-17875C>A (n.343-17875C>A)
c.652C>A (p.Pro218Thr)
11g.34966695C>GCA380120597PDHXc.517C>G (p.Pro173Ala)
c.697C>G (p.Pro233Ala)
c.343-17875C>G (n.343-17875C>G)
c.652C>G (p.Pro218Ala)
11g.34966695C>TCA380120598PDHXc.517C>T (p.Pro173Ser)
c.697C>T (p.Pro233Ser)
c.343-17875C>T (n.343-17875C>T)
c.652C>T (p.Pro218Ser)
11g.34966696C>ACA380120601PDHXc.518C>A (p.Pro173Gln)
c.698C>A (p.Pro233Gln)
c.343-17874C>A (n.343-17874C>A)
c.653C>A (p.Pro218Gln)
11g.34966696C>GCA380120599PDHXc.518C>G (p.Pro173Arg)
c.698C>G (p.Pro233Arg)
c.343-17874C>G (n.343-17874C>G)
c.653C>G (p.Pro218Arg)
11g.34966696C>TCA380120600PDHXc.518C>T (p.Pro173Leu)
c.698C>T (p.Pro233Leu)
c.343-17874C>T (n.343-17874C>T)
c.653C>T (p.Pro218Leu)
11g.34966697A=CA1963501676PDHXc.519A= (p.Pro173=)
c.699A= (p.Pro233=)
c.343-17873A= (n.343-17873A=)
c.654A= (p.Pro218=)
11g.34966697A>CCA473615435PDHXc.519A>C (p.Pro173=)
c.699A>C (p.Pro233=)
c.343-17873A>C (n.343-17873A>C)
c.654A>C (p.Pro218=)
11g.34966697A>GCA5945963PDHXc.519A>G (p.Pro173=)
c.699A>G (p.Pro233=)
c.343-17873A>G (n.343-17873A>G)
c.654A>G (p.Pro218=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966697A>TCA473615438PDHXc.519A>T (p.Pro173=)
c.699A>T (p.Pro233=)
c.343-17873A>T (n.343-17873A>T)
c.654A>T (p.Pro218=)
11g.34966698A>CCA380120602PDHXc.520A>C (p.Thr174Pro)
c.700A>C (p.Thr234Pro)
c.343-17872A>C (n.343-17872A>C)
c.655A>C (p.Thr219Pro)
11g.34966698A>GCA380120603PDHXc.520A>G (p.Thr174Ala)
c.700A>G (p.Thr234Ala)
c.343-17872A>G (n.343-17872A>G)
c.655A>G (p.Thr219Ala)
11g.34966698A>TCA380120604PDHXc.520A>T (p.Thr174Ser)
c.700A>T (p.Thr234Ser)
c.343-17872A>T (n.343-17872A>T)
c.655A>T (p.Thr219Ser)
11g.34966699C>ACA380120605PDHXc.521C>A (p.Thr174Asn)
c.701C>A (p.Thr234Asn)
c.343-17871C>A (n.343-17871C>A)
c.656C>A (p.Thr219Asn)
11g.34966699C=CA1963501680PDHXc.521C= (p.Thr174=)
c.701C= (p.Thr234=)
c.343-17871C= (n.343-17871C=)
c.656C= (p.Thr219=)
11g.34966699C>GCA380120606PDHXc.521C>G (p.Thr174Ser)
c.701C>G (p.Thr234Ser)
c.343-17871C>G (n.343-17871C>G)
c.656C>G (p.Thr219Ser)
11g.34966699C>TCA5945964PDHXc.521C>T (p.Thr174Ile)
c.701C>T (p.Thr234Ile)
c.343-17871C>T (n.343-17871C>T)
c.656C>T (p.Thr219Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966700T>ACA5945966PDHXc.522T>A (p.Thr174=)
c.702T>A (p.Thr234=)
c.343-17870T>A (n.343-17870T>A)
c.657T>A (p.Thr219=)
 dbSNP ExAC
11g.34966700T>CCA5945965PDHXc.522T>C (p.Thr174=)
c.702T>C (p.Thr234=)
c.343-17870T>C (n.343-17870T>C)
c.657T>C (p.Thr219=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.34966700T>GCA473615443PDHXc.522T>G (p.Thr174=)
c.702T>G (p.Thr234=)
c.343-17870T>G (n.343-17870T>G)
c.657T>G (p.Thr219=)
11g.34966700T=CA1963501688PDHXc.522T= (p.Thr174=)
c.702T= (p.Thr234=)
c.343-17870T= (n.343-17870T=)
c.657T= (p.Thr219=)
11g.34966701C>ACA380120607PDHXc.523C>A (p.Pro175Thr)
c.703C>A (p.Pro235Thr)
c.343-17869C>A (n.343-17869C>A)
c.658C>A (p.Pro220Thr)
11g.34966701C=CA1963501700PDHXc.523C= (p.Pro175=)
c.703C= (p.Pro235=)
c.343-17869C= (n.343-17869C=)
c.658C= (p.Pro220=)
11g.34966701C>GCA5945967PDHXc.523C>G (p.Pro175Ala)
c.703C>G (p.Pro235Ala)
c.343-17869C>G (n.343-17869C>G)
c.658C>G (p.Pro220Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966701C>TCA380120608PDHXc.523C>T (p.Pro175Ser)
c.703C>T (p.Pro235Ser)
c.343-17869C>T (n.343-17869C>T)
c.658C>T (p.Pro220Ser)
11g.34966702C>ACA380120610PDHXc.524C>A (p.Pro175Gln)
c.704C>A (p.Pro235Gln)
c.343-17868C>A (n.343-17868C>A)
c.659C>A (p.Pro220Gln)
11g.34966702C=CA1963501703PDHXc.524C= (p.Pro175=)
c.704C= (p.Pro235=)
c.343-17868C= (n.343-17868C=)
c.659C= (p.Pro220=)
11g.34966702C>GCA380120609PDHXc.524C>G (p.Pro175Arg)
c.704C>G (p.Pro235Arg)
c.343-17868C>G (n.343-17868C>G)
c.659C>G (p.Pro220Arg)
11g.34966702C>TCA5945968PDHXc.524C>T (p.Pro175Leu)
c.704C>T (p.Pro235Leu)
c.343-17868C>T (n.343-17868C>T)
c.659C>T (p.Pro220Leu)
 dbSNP ExAC
11g.34966703A>CCA473615447PDHXc.525A>C (p.Pro175=)
c.705A>C (p.Pro235=)
c.343-17867A>C (n.343-17867A>C)
c.660A>C (p.Pro220=)
11g.34966703A>GCA473615448PDHXc.525A>G (p.Pro175=)
c.705A>G (p.Pro235=)
c.343-17867A>G (n.343-17867A>G)
c.660A>G (p.Pro220=)
 gnomAD v4 COSMIC
11g.34966703A>TCA473615449PDHXc.525A>T (p.Pro175=)
c.705A>T (p.Pro235=)
c.343-17867A>T (n.343-17867A>T)
c.660A>T (p.Pro220=)
11g.34966704G>ACA380120611PDHXc.526G>A (p.Ala176Thr)
c.706G>A (p.Ala236Thr)
c.343-17866G>A (n.343-17866G>A)
c.661G>A (p.Ala221Thr)
 dbSNP
11g.34966704G>CCA220466366PDHXc.526G>C (p.Ala176Pro)
c.706G>C (p.Ala236Pro)
c.343-17866G>C (n.343-17866G>C)
c.661G>C (p.Ala221Pro)
 dbSNP gnomAD v2 gnomAD v4
11g.34966704G=CA1963501706PDHXc.526G= (p.Ala176=)
c.706G= (p.Ala236=)
c.343-17866G= (n.343-17866G=)
c.661G= (p.Ala221=)
11g.34966704G>TCA380120612PDHXc.526G>T (p.Ala176Ser)
c.706G>T (p.Ala236Ser)
c.343-17866G>T (n.343-17866G>T)
c.661G>T (p.Ala221Ser)
11g.34966705C>ACA5945970PDHXc.527C>A (p.Ala176Asp)
c.707C>A (p.Ala236Asp)
c.343-17865C>A (n.343-17865C>A)
c.662C>A (p.Ala221Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966705C=CA1963501712PDHXc.527C= (p.Ala176=)
c.707C= (p.Ala236=)
c.343-17865C= (n.343-17865C=)
c.662C= (p.Ala221=)
11g.34966705C>GCA380120614PDHXc.527C>G (p.Ala176Gly)
c.707C>G (p.Ala236Gly)
c.343-17865C>G (n.343-17865C>G)
c.662C>G (p.Ala221Gly)
11g.34966705C>TCA380120613PDHXc.527C>T (p.Ala176Val)
c.707C>T (p.Ala236Val)
c.343-17865C>T (n.343-17865C>T)
c.662C>T (p.Ala221Val)
 dbSNP
11g.34966709dupCA5945969PDHXc.531dup (p.Thr178HisfsTer?)
c.711dup (p.Thr238HisfsTer?)
c.343-17861dup (n.343-17861dup)
c.666dup (p.Thr223HisfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966705_34966723dupCA598464249PDHXc.527_545dup (p.Ala183ProfsTer?)
c.707_725dup (p.Ala243ProfsTer?)
c.343-17865_343-17847dup (n.343-17865_343-17847dup)
c.662_680dup (p.Ala228ProfsTer?)
 dbSNP gnomAD v2 gnomAD v4
11g.34966706C>ACA473615457PDHXc.528C>A (p.Ala176=)
c.708C>A (p.Ala236=)
c.343-17864C>A (n.343-17864C>A)
c.663C>A (p.Ala221=)
11g.34966706C>GCA473615458PDHXc.528C>G (p.Ala176=)
c.708C>G (p.Ala236=)
c.343-17864C>G (n.343-17864C>G)
c.663C>G (p.Ala221=)
11g.34966706C>TCA473615459PDHXc.528C>T (p.Ala176=)
c.708C>T (p.Ala236=)
c.343-17864C>T (n.343-17864C>T)
c.663C>T (p.Ala221=)
 gnomAD v4
11g.34966706_34966718delinsCCCCACAGCCACTCA1963501718PDHXc.528_540delinsCCCCACAGCCACT (p.Ala176=)
c.708_720delinsCCCCACAGCCACT (p.Ala236=)
c.343-17864_343-17852delinsCCCCACAGCCACT (n.343-17864_343-17852delinsCCCCACAGCCACT)
c.663_675delinsCCCCACAGCCACT (p.Ala221=)
11g.34966707C>ACA5945971PDHXc.529C>A (p.Pro177Thr)
c.709C>A (p.Pro237Thr)
c.343-17863C>A (n.343-17863C>A)
c.664C>A (p.Pro222Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966707C=CA1963501723PDHXc.529C= (p.Pro177=)
c.709C= (p.Pro237=)
c.343-17863C= (n.343-17863C=)
c.664C= (p.Pro222=)
11g.34966707C>GCA380120615PDHXc.529C>G (p.Pro177Ala)
c.709C>G (p.Pro237Ala)
c.343-17863C>G (n.343-17863C>G)
c.664C>G (p.Pro222Ala)
 dbSNP
11g.34966707C>TCA380120616PDHXc.529C>T (p.Pro177Ser)
c.709C>T (p.Pro237Ser)
c.343-17863C>T (n.343-17863C>T)
c.664C>T (p.Pro222Ser)
 gnomAD v4
11g.34966715_34966726delCA1963501724PDHXc.537_548del (p.Thr180_Ala183del)
c.717_728del (p.Thr240_Ala243del)
c.343-17855_343-17844del (n.343-17855_343-17844del)
c.672_683del (p.Thr225_Ala228del)
 dbSNP gnomAD v4
11g.34966708C>ACA380120617PDHXc.530C>A (p.Pro177His)
c.710C>A (p.Pro237His)
c.343-17862C>A (n.343-17862C>A)
c.665C>A (p.Pro222His)
11g.34966708C>GCA380120618PDHXc.530C>G (p.Pro177Arg)
c.710C>G (p.Pro237Arg)
c.343-17862C>G (n.343-17862C>G)
c.665C>G (p.Pro222Arg)
 gnomAD v4
11g.34966708C>TCA380120619PDHXc.530C>T (p.Pro177Leu)
c.710C>T (p.Pro237Leu)
c.343-17862C>T (n.343-17862C>T)
c.665C>T (p.Pro222Leu)
11g.34966709C>ACA5945972PDHXc.531C>A (p.Pro177=)
c.711C>A (p.Pro237=)
c.343-17861C>A (n.343-17861C>A)
c.666C>A (p.Pro222=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.34966709C=CA1963501730PDHXc.531C= (p.Pro177=)
c.711C= (p.Pro237=)
c.343-17861C= (n.343-17861C=)
c.666C= (p.Pro222=)
11g.34966709C>GCA220466372PDHXc.531C>G (p.Pro177=)
c.711C>G (p.Pro237=)
c.343-17861C>G (n.343-17861C>G)
c.666C>G (p.Pro222=)
 dbSNP gnomAD v3 gnomAD v4
11g.34966709C>TCA473615466PDHXc.531C>T (p.Pro177=)
c.711C>T (p.Pro237=)
c.343-17861C>T (n.343-17861C>T)
c.666C>T (p.Pro222=)
11g.34966710A=CA1963501734PDHXc.532A= (p.Thr178=)
c.712A= (p.Thr238=)
c.343-17860A= (n.343-17860A=)
c.667A= (p.Thr223=)
11g.34966710A>CCA5945973PDHXc.532A>C (p.Thr178Pro)
c.712A>C (p.Thr238Pro)
c.343-17860A>C (n.343-17860A>C)
c.667A>C (p.Thr223Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.34966710A>GCA380120620PDHXc.532A>G (p.Thr178Ala)
c.712A>G (p.Thr238Ala)
c.343-17860A>G (n.343-17860A>G)
c.667A>G (p.Thr223Ala)
11g.34966710A>TCA380120621PDHXc.532A>T (p.Thr178Ser)
c.712A>T (p.Thr238Ser)
c.343-17860A>T (n.343-17860A>T)
c.667A>T (p.Thr223Ser)
11g.34966711C>ACA380120623PDHXc.533C>A (p.Thr178Lys)
c.713C>A (p.Thr238Lys)
c.343-17859C>A (n.343-17859C>A)
c.668C>A (p.Thr223Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.34966711C=CA1963501742PDHXc.533C= (p.Thr178=)
c.713C= (p.Thr238=)
c.343-17859C= (n.343-17859C=)
c.668C= (p.Thr223=)
11g.34966711C>GCA380120622PDHXc.533C>G (p.Thr178Arg)
c.713C>G (p.Thr238Arg)
c.343-17859C>G (n.343-17859C>G)
c.668C>G (p.Thr223Arg)
11g.34966711C>TCA220466381PDHXc.533C>T (p.Thr178Ile)
c.713C>T (p.Thr238Ile)
c.343-17859C>T (n.343-17859C>T)
c.668C>T (p.Thr223Ile)
 dbSNP gnomAD v4 COSMIC COSMIC
11g.34966711_34966712insCCCCCCCCCCCCCCA220466379PDHXc.533_534insCCCCCCCCCCCCC (p.Ala179ProfsTer?)
c.713_714insCCCCCCCCCCCCC (p.Ala239ProfsTer?)
c.343-17859_343-17858insCCCCCCCCCCCCC (n.343-17859_343-17858insCCCCCCCCCCCCC)
c.668_669insCCCCCCCCCCCCC (p.Ala224ProfsTer?)
 dbSNP
11g.34966715_34966716insCCCCCAGCCCA5945974PDHXc.537_538insCCCCCAGCC (p.Ala179_Thr180insProProAla)
c.717_718insCCCCCAGCC (p.Ala239_Thr240insProProAla)
c.343-17855_343-17854insCCCCCAGCC (n.343-17855_343-17854insCCCCCAGCC)
c.672_673insCCCCCAGCC (p.Ala224_Thr225insProProAla)
 dbSNP ExAC
11g.34966712A=CA1963501748PDHXc.534A= (p.Thr178=)
c.714A= (p.Thr238=)
c.343-17858A= (n.343-17858A=)
c.669A= (p.Thr223=)
11g.34966712A>CCA473615471PDHXc.534A>C (p.Thr178=)
c.714A>C (p.Thr238=)
c.343-17858A>C (n.343-17858A>C)
c.669A>C (p.Thr223=)
11g.34966712A>GCA5945975PDHXc.534A>G (p.Thr178=)
c.714A>G (p.Thr238=)
c.343-17858A>G (n.343-17858A>G)
c.669A>G (p.Thr223=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.34966712A>TCA473615474PDHXc.534A>T (p.Thr178=)
c.714A>T (p.Thr238=)
c.343-17858A>T (n.343-17858A>T)
c.669A>T (p.Thr223=)
11g.34966713G>ACA380120624PDHXc.535G>A (p.Ala179Thr)
c.715G>A (p.Ala239Thr)
c.343-17857G>A (n.343-17857G>A)
c.670G>A (p.Ala224Thr)
 gnomAD v4
11g.34966713G>CCA380120625PDHXc.535G>C (p.Ala179Pro)
c.715G>C (p.Ala239Pro)
c.343-17857G>C (n.343-17857G>C)
c.670G>C (p.Ala224Pro)
11g.34966713G>TCA380120626PDHXc.535G>T (p.Ala179Ser)
c.715G>T (p.Ala239Ser)
c.343-17857G>T (n.343-17857G>T)
c.670G>T (p.Ala224Ser)
11g.34966714C>ACA380120627PDHXc.536C>A (p.Ala179Asp)
c.716C>A (p.Ala239Asp)
c.343-17856C>A (n.343-17856C>A)
c.671C>A (p.Ala224Asp)
11g.34966714C>GCA380120628PDHXc.536C>G (p.Ala179Gly)
c.716C>G (p.Ala239Gly)
c.343-17856C>G (n.343-17856C>G)
c.671C>G (p.Ala224Gly)
11g.34966714C>TCA380120629PDHXc.536C>T (p.Ala179Val)
c.716C>T (p.Ala239Val)
c.343-17856C>T (n.343-17856C>T)
c.671C>T (p.Ala224Val)
11g.34966715C>ACA473615478PDHXc.537C>A (p.Ala179=)
c.717C>A (p.Ala239=)
c.343-17855C>A (n.343-17855C>A)
c.672C>A (p.Ala224=)
11g.34966715C>GCA473615480PDHXc.537C>G (p.Ala179=)
c.717C>G (p.Ala239=)
c.343-17855C>G (n.343-17855C>G)
c.672C>G (p.Ala224=)
11g.34966715C>TCA473615481PDHXc.537C>T (p.Ala179=)
c.717C>T (p.Ala239=)
c.343-17855C>T (n.343-17855C>T)
c.672C>T (p.Ala224=)
 gnomAD v4
11g.34966716A>CCA380120632PDHXc.538A>C (p.Thr180Pro)
c.718A>C (p.Thr240Pro)
c.343-17854A>C (n.343-17854A>C)
c.673A>C (p.Thr225Pro)
11g.34966716A>GCA380120631PDHXc.538A>G (p.Thr180Ala)
c.718A>G (p.Thr240Ala)
c.343-17854A>G (n.343-17854A>G)
c.673A>G (p.Thr225Ala)
11g.34966716A>TCA380120630PDHXc.538A>T (p.Thr180Ser)
c.718A>T (p.Thr240Ser)
c.343-17854A>T (n.343-17854A>T)
c.673A>T (p.Thr225Ser)
11g.34966717C>ACA380120633PDHXc.539C>A (p.Thr180Asn)
c.719C>A (p.Thr240Asn)
c.343-17853C>A (n.343-17853C>A)
c.674C>A (p.Thr225Asn)
11g.34966717C=CA1963501754PDHXc.539C= (p.Thr180=)
c.719C= (p.Thr240=)
c.343-17853C= (n.343-17853C=)
c.674C= (p.Thr225=)
11g.34966717C>GCA380120634PDHXc.539C>G (p.Thr180Ser)
c.719C>G (p.Thr240Ser)
c.343-17853C>G (n.343-17853C>G)
c.674C>G (p.Thr225Ser)
11g.34966717C>TCA380120635PDHXc.539C>T (p.Thr180Ile)
c.719C>T (p.Thr240Ile)
c.343-17853C>T (n.343-17853C>T)
c.674C>T (p.Thr225Ile)
 dbSNP
11g.34966718T>ACA473615482PDHXc.540T>A (p.Thr180=)
c.720T>A (p.Thr240=)
c.343-17852T>A (n.343-17852T>A)
c.675T>A (p.Thr225=)
11g.34966718T>CCA473615483PDHXc.540T>C (p.Thr180=)
c.720T>C (p.Thr240=)
c.343-17852T>C (n.343-17852T>C)
c.675T>C (p.Thr225=)
11g.34966718T>GCA473615484PDHXc.540T>G (p.Thr180=)
c.720T>G (p.Thr240=)
c.343-17852T>G (n.343-17852T>G)
c.675T>G (p.Thr225=)
11g.34966719C>ACA380120636PDHXc.541C>A (p.Pro181Thr)
c.721C>A (p.Pro241Thr)
c.343-17851C>A (n.343-17851C>A)
c.676C>A (p.Pro226Thr)
11g.34966719C>GCA380120637PDHXc.541C>G (p.Pro181Ala)
c.721C>G (p.Pro241Ala)
c.343-17851C>G (n.343-17851C>G)
c.676C>G (p.Pro226Ala)
11g.34966719C>TCA380120638PDHXc.541C>T (p.Pro181Ser)
c.721C>T (p.Pro241Ser)
c.343-17851C>T (n.343-17851C>T)
c.676C>T (p.Pro226Ser)
11g.34966721dupCA2613093494PDHXc.543dup (p.Thr182HisfsTer?)
c.723dup (p.Thr242HisfsTer?)
c.343-17849dup (n.343-17849dup)
c.678dup (p.Thr227HisfsTer?)
 gnomAD v4
11g.34966720C>ACA380120639PDHXc.542C>A (p.Pro181His)
c.722C>A (p.Pro241His)
c.343-17850C>A (n.343-17850C>A)
c.677C>A (p.Pro226His)
 dbSNP gnomAD v2
11g.34966720C=CA1963501760PDHXc.542C= (p.Pro181=)
c.722C= (p.Pro241=)
c.343-17850C= (n.343-17850C=)
c.677C= (p.Pro226=)
11g.34966720C>GCA380120640PDHXc.542C>G (p.Pro181Arg)
c.722C>G (p.Pro241Arg)
c.343-17850C>G (n.343-17850C>G)
c.677C>G (p.Pro226Arg)
11g.34966720C>TCA380120641PDHXc.542C>T (p.Pro181Leu)
c.722C>T (p.Pro241Leu)
c.343-17850C>T (n.343-17850C>T)
c.677C>T (p.Pro226Leu)
11g.34966721C>ACA473615492PDHXc.543C>A (p.Pro181=)
c.723C>A (p.Pro241=)
c.343-17849C>A (n.343-17849C>A)
c.678C>A (p.Pro226=)
11g.34966721C>GCA473615491PDHXc.543C>G (p.Pro181=)
c.723C>G (p.Pro241=)
c.343-17849C>G (n.343-17849C>G)
c.678C>G (p.Pro226=)
11g.34966721C>TCA473615489PDHXc.543C>T (p.Pro181=)
c.723C>T (p.Pro241=)
c.343-17849C>T (n.343-17849C>T)
c.678C>T (p.Pro226=)
11g.34966722A>CCA380120642PDHXc.544A>C (p.Thr182Pro)
c.724A>C (p.Thr242Pro)
c.343-17848A>C (n.343-17848A>C)
c.679A>C (p.Thr227Pro)
11g.34966722A>GCA380120643PDHXc.544A>G (p.Thr182Ala)
c.724A>G (p.Thr242Ala)
c.343-17848A>G (n.343-17848A>G)
c.679A>G (p.Thr227Ala)
 gnomAD v4
11g.34966722A>TCA380120644PDHXc.544A>T (p.Thr182Ser)
c.724A>T (p.Thr242Ser)
c.343-17848A>T (n.343-17848A>T)
c.679A>T (p.Thr227Ser)
11g.34966723C>ACA380120647PDHXc.545C>A (p.Thr182Lys)
c.725C>A (p.Thr242Lys)
c.343-17847C>A (n.343-17847C>A)
c.680C>A (p.Thr227Lys)
11g.34966723C>GCA380120645PDHXc.545C>G (p.Thr182Arg)
c.725C>G (p.Thr242Arg)
c.343-17847C>G (n.343-17847C>G)
c.680C>G (p.Thr227Arg)
11g.34966723C>TCA380120646PDHXc.545C>T (p.Thr182Ile)
c.725C>T (p.Thr242Ile)
c.343-17847C>T (n.343-17847C>T)
c.680C>T (p.Thr227Ile)
11g.34966724A>CCA473615498PDHXc.546A>C (p.Thr182=)
c.726A>C (p.Thr242=)
c.343-17846A>C (n.343-17846A>C)
c.681A>C (p.Thr227=)
11g.34966724A>GCA473615497PDHXc.546A>G (p.Thr182=)
c.726A>G (p.Thr242=)
c.343-17846A>G (n.343-17846A>G)
c.681A>G (p.Thr227=)
11g.34966724A>TCA473615496PDHXc.546A>T (p.Thr182=)
c.726A>T (p.Thr242=)
c.343-17846A>T (n.343-17846A>T)
c.681A>T (p.Thr227=)
11g.34966725G>ACA380120648PDHXc.547G>A (p.Ala183Thr)
c.727G>A (p.Ala243Thr)
c.343-17845G>A (n.343-17845G>A)
c.682G>A (p.Ala228Thr)
11g.34966725G>CCA380120649PDHXc.547G>C (p.Ala183Pro)
c.727G>C (p.Ala243Pro)
c.343-17845G>C (n.343-17845G>C)
c.682G>C (p.Ala228Pro)
11g.34966725G>TCA380120650PDHXc.547G>T (p.Ala183Ser)
c.727G>T (p.Ala243Ser)
c.343-17845G>T (n.343-17845G>T)
c.682G>T (p.Ala228Ser)
 gnomAD v4
11g.34966726C>ACA380120651PDHXc.548C>A (p.Ala183Glu)
c.728C>A (p.Ala243Glu)
c.343-17844C>A (n.343-17844C>A)
c.683C>A (p.Ala228Glu)
11g.34966726C>GCA380120652PDHXc.548C>G (p.Ala183Gly)
c.728C>G (p.Ala243Gly)
c.343-17844C>G (n.343-17844C>G)
c.683C>G (p.Ala228Gly)
11g.34966726C>TCA380120653PDHXc.548C>T (p.Ala183Val)
c.728C>T (p.Ala243Val)
c.343-17844C>T (n.343-17844C>T)
c.683C>T (p.Ala228Val)
11g.34966727A=CA1963501763PDHXc.549A= (p.Ala183=)
c.729A= (p.Ala243=)
c.343-17843A= (n.343-17843A=)
c.684A= (p.Ala228=)
11g.34966727A>CCA473615502PDHXc.549A>C (p.Ala183=)
c.729A>C (p.Ala243=)
c.343-17843A>C (n.343-17843A>C)
c.684A>C (p.Ala228=)
 dbSNP
11g.34966727A>GCA473615504PDHXc.549A>G (p.Ala183=)
c.729A>G (p.Ala243=)
c.343-17843A>G (n.343-17843A>G)
c.684A>G (p.Ala228=)
 gnomAD v4
11g.34966727A>TCA473615503PDHXc.549A>T (p.Ala183=)
c.729A>T (p.Ala243=)
c.343-17843A>T (n.343-17843A>T)
c.684A>T (p.Ala228=)
 dbSNP
11g.34966728C>ACA380120654PDHXc.550C>A (p.Pro184Thr)
c.730C>A (p.Pro244Thr)
c.343-17842C>A (n.343-17842C>A)
c.685C>A (p.Pro229Thr)
 gnomAD v4
11g.34966728C>GCA380120655PDHXc.550C>G (p.Pro184Ala)
c.730C>G (p.Pro244Ala)
c.343-17842C>G (n.343-17842C>G)
c.685C>G (p.Pro229Ala)
11g.34966728C>TCA380120656PDHXc.550C>T (p.Pro184Ser)
c.730C>T (p.Pro244Ser)
c.343-17842C>T (n.343-17842C>T)
c.685C>T (p.Pro229Ser)
 gnomAD v4
11g.34966729C>ACA380120657PDHXc.551C>A (p.Pro184His)
c.731C>A (p.Pro244His)
c.343-17841C>A (n.343-17841C>A)
c.686C>A (p.Pro229His)
11g.34966729C=CA1963501770PDHXc.551C= (p.Pro184=)
c.731C= (p.Pro244=)
c.343-17841C= (n.343-17841C=)
c.686C= (p.Pro229=)
11g.34966729C>GCA380120658PDHXc.551C>G (p.Pro184Arg)
c.731C>G (p.Pro244Arg)
c.343-17841C>G (n.343-17841C>G)
c.686C>G (p.Pro229Arg)
11g.34966729C>TCA5945976PDHXc.551C>T (p.Pro184Leu)
c.731C>T (p.Pro244Leu)
c.343-17841C>T (n.343-17841C>T)
c.686C>T (p.Pro229Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.34966730T>ACA473615507PDHXc.552T>A (p.Pro184=)
c.732T>A (p.Pro244=)
c.343-17840T>A (n.343-17840T>A)
c.687T>A (p.Pro229=)
11g.34966730T>CCA473615508PDHXc.552T>C (p.Pro184=)
c.732T>C (p.Pro244=)
c.343-17840T>C (n.343-17840T>C)
c.687T>C (p.Pro229=)
 dbSNP gnomAD v2
11g.34966730T>GCA473615509PDHXc.552T>G (p.Pro184=)
c.732T>G (p.Pro244=)
c.343-17840T>G (n.343-17840T>G)
c.687T>G (p.Pro229=)
11g.34966730T=CA1963501771PDHXc.552T= (p.Pro184=)
c.732T= (p.Pro244=)
c.343-17840T= (n.343-17840T=)
c.687T= (p.Pro229=)
11g.34966731T>ACA380120660PDHXc.553T>A (p.Ser185Thr)
c.733T>A (p.Ser245Thr)
c.343-17839T>A (n.343-17839T>A)
c.688T>A (p.Ser230Thr)
11g.34966731T>CCA380120661PDHXc.553T>C (p.Ser185Pro)
c.733T>C (p.Ser245Pro)
c.343-17839T>C (n.343-17839T>C)
c.688T>C (p.Ser230Pro)
11g.34966731T>GCA380120659PDHXc.553T>G (p.Ser185Ala)
c.733T>G (p.Ser245Ala)
c.343-17839T>G (n.343-17839T>G)
c.688T>G (p.Ser230Ala)
11g.34966732C>ACA380120663PDHXc.554C>A (p.Ser185Ter)
c.734C>A (p.Ser245Ter)
c.343-17838C>A (n.343-17838C>A)
c.689C>A (p.Ser230Ter)
11g.34966732C=CA1963501774PDHXc.554C= (p.Ser185=)
c.734C= (p.Ser245=)
c.343-17838C= (n.343-17838C=)
c.689C= (p.Ser230=)
11g.34966732C>GCA380120662PDHXc.554C>G (p.Ser185Trp)
c.734C>G (p.Ser245Trp)
c.343-17838C>G (n.343-17838C>G)
c.689C>G (p.Ser230Trp)
11g.34966732C>TCA5945977PDHXc.554C>T (p.Ser185Leu)
c.734C>T (p.Ser245Leu)
c.343-17838C>T (n.343-17838C>T)
c.689C>T (p.Ser230Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.34966733G>ACA473615513PDHXc.555G>A (p.Ser185=)
c.735G>A (p.Ser245=)
c.343-17837G>A (n.343-17837G>A)
c.690G>A (p.Ser230=)
 dbSNP gnomAD v4
11g.34966733G>CCA473615515PDHXc.555G>C (p.Ser185=)
c.735G>C (p.Ser245=)
c.343-17837G>C (n.343-17837G>C)
c.690G>C (p.Ser230=)
11g.34966733G=CA1963501776PDHXc.555G= (p.Ser185=)
c.735G= (p.Ser245=)
c.343-17837G= (n.343-17837G=)
c.690G= (p.Ser230=)
11g.34966733G>TCA473615516PDHXc.555G>T (p.Ser185=)
c.735G>T (p.Ser245=)
c.343-17837G>T (n.343-17837G>T)
c.690G>T (p.Ser230=)
 gnomAD v4
11g.34966734C>ACA380120664PDHXc.556C>A (p.Pro186Thr)
c.736C>A (p.Pro246Thr)
c.343-17836C>A (n.343-17836C>A)
c.691C>A (p.Pro231Thr)
11g.34966734C>GCA380120665PDHXc.556C>G (p.Pro186Ala)
c.736C>G (p.Pro246Ala)
c.343-17836C>G (n.343-17836C>G)
c.691C>G (p.Pro231Ala)
11g.34966734C>TCA380120666PDHXc.556C>T (p.Pro186Ser)
c.736C>T (p.Pro246Ser)
c.343-17836C>T (n.343-17836C>T)
c.691C>T (p.Pro231Ser)
11g.34966735C>ACA5945978PDHXc.557C>A (p.Pro186His)
c.737C>A (p.Pro246His)
c.343-17835C>A (n.343-17835C>A)
c.692C>A (p.Pro231His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966735C=CA1963501780PDHXc.557C= (p.Pro186=)
c.737C= (p.Pro246=)
c.343-17835C= (n.343-17835C=)
c.692C= (p.Pro231=)
11g.34966735C>GCA380120667PDHXc.557C>G (p.Pro186Arg)
c.737C>G (p.Pro246Arg)
c.343-17835C>G (n.343-17835C>G)
c.692C>G (p.Pro231Arg)
11g.34966735C>TCA380120668PDHXc.557C>T (p.Pro186Leu)
c.737C>T (p.Pro246Leu)
c.343-17835C>T (n.343-17835C>T)
c.692C>T (p.Pro231Leu)
11g.34966736C>ACA473615529PDHXc.558C>A (p.Pro186=)
c.738C>A (p.Pro246=)
c.343-17834C>A (n.343-17834C>A)
c.693C>A (p.Pro231=)
11g.34966736C=CA1963501783PDHXc.558C= (p.Pro186=)
c.738C= (p.Pro246=)
c.343-17834C= (n.343-17834C=)
c.693C= (p.Pro231=)
11g.34966736C>GCA220466388PDHXc.558C>G (p.Pro186=)
c.738C>G (p.Pro246=)
c.343-17834C>G (n.343-17834C>G)
c.693C>G (p.Pro231=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.34966736C>TCA473615530PDHXc.558C>T (p.Pro186=)
c.738C>T (p.Pro246=)
c.343-17834C>T (n.343-17834C>T)
c.693C>T (p.Pro231=)
 gnomAD v4
11g.34966737C>ACA380120669PDHXc.559C>A (p.Leu187Ile)
c.739C>A (p.Leu247Ile)
c.343-17833C>A (n.343-17833C>A)
c.694C>A (p.Leu232Ile)
11g.34966737C=CA1963501788PDHXc.559C= (p.Leu187=)
c.739C= (p.Leu247=)
c.343-17833C= (n.343-17833C=)
c.694C= (p.Leu232=)
11g.34966737C>GCA380120670PDHXc.559C>G (p.Leu187Val)
c.739C>G (p.Leu247Val)
c.343-17833C>G (n.343-17833C>G)
c.694C>G (p.Leu232Val)
 dbSNP gnomAD v3 gnomAD v4
11g.34966737C>TCA473615531PDHXc.559C>T (p.Leu187=)
c.739C>T (p.Leu247=)
c.343-17833C>T (n.343-17833C>T)
c.694C>T (p.Leu232=)
 dbSNP gnomAD v4
11g.34966738T>ACA380120671PDHXc.560T>A (p.Leu187Gln)
c.740T>A (p.Leu247Gln)
c.343-17832T>A (n.343-17832T>A)
c.695T>A (p.Leu232Gln)
11g.34966738T>CCA5945979PDHXc.560T>C (p.Leu187Pro)
c.740T>C (p.Leu247Pro)
c.343-17832T>C (n.343-17832T>C)
c.695T>C (p.Leu232Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.34966738T>GCA380120672PDHXc.560T>G (p.Leu187Arg)
c.740T>G (p.Leu247Arg)
c.343-17832T>G (n.343-17832T>G)
c.695T>G (p.Leu232Arg)
11g.34966738T=CA1963501791PDHXc.560T= (p.Leu187=)
c.740T= (p.Leu247=)
c.343-17832T= (n.343-17832T=)
c.695T= (p.Leu232=)
11g.34966739A=CA1963501796PDHXc.561A= (p.Leu187=)
c.741A= (p.Leu247=)
c.343-17831A= (n.343-17831A=)
c.696A= (p.Leu232=)
11g.34966739A>CCA473615534PDHXc.561A>C (p.Leu187=)
c.741A>C (p.Leu247=)
c.343-17831A>C (n.343-17831A>C)
c.696A>C (p.Leu232=)
11g.34966739A>GCA473615535PDHXc.561A>G (p.Leu187=)
c.741A>G (p.Leu247=)
c.343-17831A>G (n.343-17831A>G)
c.696A>G (p.Leu232=)
 ClinVar dbSNP gnomAD v4
11g.34966739A>TCA473615536PDHXc.561A>T (p.Leu187=)
c.741A>T (p.Leu247=)
c.343-17831A>T (n.343-17831A>T)
c.696A>T (p.Leu232=)
11g.34966740C>ACA380120673PDHXc.562C>A (p.Gln188Lys)
c.742C>A (p.Gln248Lys)
c.343-17830C>A (n.343-17830C>A)
c.697C>A (p.Gln233Lys)
11g.34966740C=CA1963501807PDHXc.562C= (p.Gln188=)
c.742C= (p.Gln248=)
c.343-17830C= (n.343-17830C=)
c.697C= (p.Gln233=)
11g.34966740C>GCA220466391PDHXc.562C>G (p.Gln188Glu)
c.742C>G (p.Gln248Glu)
c.343-17830C>G (n.343-17830C>G)
c.697C>G (p.Gln233Glu)
 ClinVar dbSNP gnomAD v4
11g.34966740C>TCA115356PDHXc.562C>T (p.Gln188Ter)
c.742C>T (p.Gln248Ter)
c.343-17830C>T (n.343-17830C>T)
c.697C>T (p.Gln233Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.34966741A>CCA380120674PDHXc.563A>C (p.Gln188Pro)
c.743A>C (p.Gln248Pro)
c.343-17829A>C (n.343-17829A>C)
c.698A>C (p.Gln233Pro)
11g.34966741A>GCA380120675PDHXc.563A>G (p.Gln188Arg)
c.743A>G (p.Gln248Arg)
c.343-17829A>G (n.343-17829A>G)
c.698A>G (p.Gln233Arg)
11g.34966741A>TCA380120676PDHXc.563A>T (p.Gln188Leu)
c.743A>T (p.Gln248Leu)
c.343-17829A>T (n.343-17829A>T)
c.698A>T (p.Gln233Leu)
 gnomAD v4
11g.34966742G>ACA5945980PDHXc.564G>A (p.Gln188=)
c.744G>A (p.Gln248=)
c.343-17828G>A (n.343-17828G>A)
c.699G>A (p.Gln233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966742G>CCA380120677PDHXc.564G>C (p.Gln188His)
c.744G>C (p.Gln248His)
c.343-17828G>C (n.343-17828G>C)
c.699G>C (p.Gln233His)
11g.34966742G=CA1963501811PDHXc.564G= (p.Gln188=)
c.744G= (p.Gln248=)
c.343-17828G= (n.343-17828G=)
c.699G= (p.Gln233=)
11g.34966742G>TCA380120678PDHXc.564G>T (p.Gln188His)
c.744G>T (p.Gln248His)
c.343-17828G>T (n.343-17828G>T)
c.699G>T (p.Gln233His)
11g.34966743G>ACA380120679PDHXc.565G>A (p.Ala189Thr)
c.745G>A (p.Ala249Thr)
c.343-17827G>A (n.343-17827G>A)
c.700G>A (p.Ala234Thr)
 gnomAD v4
11g.34966743G>CCA380120680PDHXc.565G>C (p.Ala189Pro)
c.745G>C (p.Ala249Pro)
c.343-17827G>C (n.343-17827G>C)
c.700G>C (p.Ala234Pro)
 dbSNP
11g.34966743G=CA1963501813PDHXc.565G= (p.Ala189=)
c.745G= (p.Ala249=)
c.343-17827G= (n.343-17827G=)
c.700G= (p.Ala234=)
11g.34966743G>TCA380120681PDHXc.565G>T (p.Ala189Ser)
c.745G>T (p.Ala249Ser)
c.343-17827G>T (n.343-17827G>T)
c.700G>T (p.Ala234Ser)
11g.34966744C>ACA380120682PDHXc.566C>A (p.Ala189Asp)
c.746C>A (p.Ala249Asp)
c.343-17826C>A (n.343-17826C>A)
c.701C>A (p.Ala234Asp)
 gnomAD v4
11g.34966744C>GCA380120683PDHXc.566C>G (p.Ala189Gly)
c.746C>G (p.Ala249Gly)
c.343-17826C>G (n.343-17826C>G)
c.701C>G (p.Ala234Gly)
11g.34966744C>TCA380120684PDHXc.566C>T (p.Ala189Val)
c.746C>T (p.Ala249Val)
c.343-17826C>T (n.343-17826C>T)
c.701C>T (p.Ala234Val)
11g.34966745C>ACA473615541PDHXc.567C>A (p.Ala189=)
c.747C>A (p.Ala249=)
c.343-17825C>A (n.343-17825C>A)
c.702C>A (p.Ala234=)
11g.34966745C=CA1963501815PDHXc.567C= (p.Ala189=)
c.747C= (p.Ala249=)
c.343-17825C= (n.343-17825C=)
c.702C= (p.Ala234=)
11g.34966745C>GCA473615542PDHXc.567C>G (p.Ala189=)
c.747C>G (p.Ala249=)
c.343-17825C>G (n.343-17825C>G)
c.702C>G (p.Ala234=)
 gnomAD v4
11g.34966745C>TCA473615543PDHXc.567C>T (p.Ala189=)
c.747C>T (p.Ala249=)
c.343-17825C>T (n.343-17825C>T)
c.702C>T (p.Ala234=)
 dbSNP gnomAD v4
11g.34966746A=CA1963501820PDHXc.568A= (p.Thr190=)
c.748A= (p.Thr250=)
c.343-17824A= (n.343-17824A=)
c.703A= (p.Thr235=)
11g.34966746A>CCA380120687PDHXc.568A>C (p.Thr190Pro)
c.748A>C (p.Thr250Pro)
c.343-17824A>C (n.343-17824A>C)
c.703A>C (p.Thr235Pro)
11g.34966746A>GCA380120686PDHXc.568A>G (p.Thr190Ala)
c.748A>G (p.Thr250Ala)
c.343-17824A>G (n.343-17824A>G)
c.703A>G (p.Thr235Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.34966746A>TCA380120685PDHXc.568A>T (p.Thr190Ser)
c.748A>T (p.Thr250Ser)
c.343-17824A>T (n.343-17824A>T)
c.703A>T (p.Thr235Ser)
11g.34966747C>ACA380120688PDHXc.569C>A (p.Thr190Lys)
c.749C>A (p.Thr250Lys)
c.343-17823C>A (n.343-17823C>A)
c.704C>A (p.Thr235Lys)
11g.34966747C=CA1963501821PDHXc.569C= (p.Thr190=)
c.749C= (p.Thr250=)
c.343-17823C= (n.343-17823C=)
c.704C= (p.Thr235=)
11g.34966747C>GCA380120689PDHXc.569C>G (p.Thr190Arg)
c.749C>G (p.Thr250Arg)
c.343-17823C>G (n.343-17823C>G)
c.704C>G (p.Thr235Arg)
11g.34966747C>TCA320294PDHXc.569C>T (p.Thr190Ile)
c.749C>T (p.Thr250Ile)
c.343-17823C>T (n.343-17823C>T)
c.704C>T (p.Thr235Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966748A>CCA473615551PDHXc.570A>C (p.Thr190=)
c.750A>C (p.Thr250=)
c.343-17822A>C (n.343-17822A>C)
c.705A>C (p.Thr235=)
11g.34966748A>GCA473615552PDHXc.570A>G (p.Thr190=)
c.750A>G (p.Thr250=)
c.343-17822A>G (n.343-17822A>G)
c.705A>G (p.Thr235=)
11g.34966748A>TCA473615553PDHXc.570A>T (p.Thr190=)
c.750A>T (p.Thr250=)
c.343-17822A>T (n.343-17822A>T)
c.705A>T (p.Thr235=)
11g.34966749delCA2613093525PDHXc.571del (p.Ala191LeufsTer9)
c.751del (p.Ala251LeufsTer9)
c.343-17821del (n.343-17821del)
c.706del (p.Ala236LeufsTer9)
 gnomAD v4
11g.34966749G>ACA380120690PDHXc.571G>A (p.Ala191Thr)
c.751G>A (p.Ala251Thr)
c.343-17821G>A (n.343-17821G>A)
c.706G>A (p.Ala236Thr)
11g.34966749G>CCA380120691PDHXc.571G>C (p.Ala191Pro)
c.751G>C (p.Ala251Pro)
c.343-17821G>C (n.343-17821G>C)
c.706G>C (p.Ala236Pro)
11g.34966749G=CA1963501827PDHXc.571G= (p.Ala191=)
c.751G= (p.Ala251=)
c.343-17821G= (n.343-17821G=)
c.706G= (p.Ala236=)
11g.34966749G>TCA220466400PDHXc.571G>T (p.Ala191Ser)
c.751G>T (p.Ala251Ser)
c.343-17821G>T (n.343-17821G>T)
c.706G>T (p.Ala236Ser)
 dbSNP
11g.34966750_34966753delCA2594620305PDHXc.572_575del (p.Ala191AspfsTer8)
c.752_755del (p.Ala251AspfsTer8)
c.343-17820_343-17817del (n.343-17820_343-17817del)
c.707_710del (p.Ala236AspfsTer8)
 gnomAD v3 gnomAD v4
11g.34966749_34966758delinsGCTGGACCATCA1963501829PDHXc.571_580delinsGCTGGACCAT (p.Ala191=)
c.751_760delinsGCTGGACCAT (p.Ala251=)
c.343-17821_343-17812delinsGCTGGACCAT (n.343-17821_343-17812delinsGCTGGACCAT)
c.706_715delinsGCTGGACCAT (p.Ala236=)
11g.34966750C>ACA380120692PDHXc.572C>A (p.Ala191Asp)
c.752C>A (p.Ala251Asp)
c.343-17820C>A (n.343-17820C>A)
c.707C>A (p.Ala236Asp)
11g.34966750C=CA1963501832PDHXc.572C= (p.Ala191=)
c.752C= (p.Ala251=)
c.343-17820C= (n.343-17820C=)
c.707C= (p.Ala236=)
11g.34966750C>GCA380120693PDHXc.572C>G (p.Ala191Gly)
c.752C>G (p.Ala251Gly)
c.343-17820C>G (n.343-17820C>G)
c.707C>G (p.Ala236Gly)
11g.34966750C>TCA5945982PDHXc.572C>T (p.Ala191Val)
c.752C>T (p.Ala251Val)
c.343-17820C>T (n.343-17820C>T)
c.707C>T (p.Ala236Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966752_34966760delCA5945981PDHXc.574_582del (p.Gly192_Ser194del)
c.754_762del (p.Gly252_Ser254del)
c.343-17818_343-17810del (n.343-17818_343-17810del)
c.709_717del (p.Gly237_Ser239del)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.34966751T>ACA473615554PDHXc.573T>A (p.Ala191=)
c.753T>A (p.Ala251=)
c.343-17819T>A (n.343-17819T>A)
c.708T>A (p.Ala236=)
11g.34966751T>CCA5945983PDHXc.573T>C (p.Ala191=)
c.753T>C (p.Ala251=)
c.343-17819T>C (n.343-17819T>C)
c.708T>C (p.Ala236=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966751T>GCA473615555PDHXc.573T>G (p.Ala191=)
c.753T>G (p.Ala251=)
c.343-17819T>G (n.343-17819T>G)
c.708T>G (p.Ala236=)
11g.34966751T=CA1963501835PDHXc.573T= (p.Ala191=)
c.753T= (p.Ala251=)
c.343-17819T= (n.343-17819T=)
c.708T= (p.Ala236=)
11g.34966752G>ACA380120694PDHXc.574G>A (p.Gly192Arg)
c.754G>A (p.Gly252Arg)
c.343-17818G>A (n.343-17818G>A)
c.709G>A (p.Gly237Arg)
11g.34966752G>CCA380120695PDHXc.574G>C (p.Gly192Arg)
c.754G>C (p.Gly252Arg)
c.343-17818G>C (n.343-17818G>C)
c.709G>C (p.Gly237Arg)
11g.34966752G=CA1963501837PDHXc.574G= (p.Gly192=)
c.754G= (p.Gly252=)
c.343-17818G= (n.343-17818G=)
c.709G= (p.Gly237=)
11g.34966752G>TCA380120696PDHXc.574G>T (p.Gly192Ter)
c.754G>T (p.Gly252Ter)
c.343-17818G>T (n.343-17818G>T)
c.709G>T (p.Gly237Ter)
 dbSNP
11g.34966753G>ACA380120699PDHXc.575G>A (p.Gly192Glu)
c.755G>A (p.Gly252Glu)
c.343-17817G>A (n.343-17817G>A)
c.710G>A (p.Gly237Glu)
11g.34966753G>CCA380120698PDHXc.575G>C (p.Gly192Ala)
c.755G>C (p.Gly252Ala)
c.343-17817G>C (n.343-17817G>C)
c.710G>C (p.Gly237Ala)
11g.34966753G=CA1963501839PDHXc.575G= (p.Gly192=)
c.755G= (p.Gly252=)
c.343-17817G= (n.343-17817G=)
c.710G= (p.Gly237=)
11g.34966753G>TCA380120697PDHXc.575G>T (p.Gly192Val)
c.755G>T (p.Gly252Val)
c.343-17817G>T (n.343-17817G>T)
c.710G>T (p.Gly237Val)
 dbSNP
11g.34966754A=CA1963501844PDHXc.576A= (p.Gly192=)
c.756A= (p.Gly252=)
c.343-17816A= (n.343-17816A=)
c.711A= (p.Gly237=)
11g.34966754A>CCA473615556PDHXc.576A>C (p.Gly192=)
c.756A>C (p.Gly252=)
c.343-17816A>C (n.343-17816A>C)
c.711A>C (p.Gly237=)
11g.34966754A>GCA5945984PDHXc.576A>G (p.Gly192=)
c.756A>G (p.Gly252=)
c.343-17816A>G (n.343-17816A>G)
c.711A>G (p.Gly237=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.34966754A>TCA473615557PDHXc.576A>T (p.Gly192=)
c.756A>T (p.Gly252=)
c.343-17816A>T (n.343-17816A>T)
c.711A>T (p.Gly237=)
11g.34966755C>ACA380120700PDHXc.577C>A (p.Pro193Thr)
c.757C>A (p.Pro253Thr)
c.343-17815C>A (n.343-17815C>A)
c.712C>A (p.Pro238Thr)
11g.34966755C>GCA380120701PDHXc.577C>G (p.Pro193Ala)
c.757C>G (p.Pro253Ala)
c.343-17815C>G (n.343-17815C>G)
c.712C>G (p.Pro238Ala)
11g.34966755C>TCA380120702PDHXc.577C>T (p.Pro193Ser)
c.757C>T (p.Pro253Ser)
c.343-17815C>T (n.343-17815C>T)
c.712C>T (p.Pro238Ser)
11g.34966755_34966759delCA2594620307PDHXc.577_581del (p.Pro193LeufsTer23)
c.757_761del (p.Pro253LeufsTer23)
c.343-17815_343-17811del (n.343-17815_343-17811del)
c.712_716del (p.Pro238LeufsTer23)
 gnomAD v3 gnomAD v4
11g.34966756C>ACA380120703PDHXc.578C>A (p.Pro193Gln)
c.758C>A (p.Pro253Gln)
c.343-17814C>A (n.343-17814C>A)
c.713C>A (p.Pro238Gln)
11g.34966756C=CA1963501849PDHXc.578C= (p.Pro193=)
c.758C= (p.Pro253=)
c.343-17814C= (n.343-17814C=)
c.713C= (p.Pro238=)
11g.34966756C>GCA220466410PDHXc.578C>G (p.Pro193Arg)
c.758C>G (p.Pro253Arg)
c.343-17814C>G (n.343-17814C>G)
c.713C>G (p.Pro238Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.34966756C>TCA380120704PDHXc.578C>T (p.Pro193Leu)
c.758C>T (p.Pro253Leu)
c.343-17814C>T (n.343-17814C>T)
c.713C>T (p.Pro238Leu)
 dbSNP gnomAD v4
11g.34966757A=CA1963501855PDHXc.579A= (p.Pro193=)
c.759A= (p.Pro253=)
c.343-17813A= (n.343-17813A=)
c.714A= (p.Pro238=)
11g.34966757A>CCA473615558PDHXc.579A>C (p.Pro193=)
c.759A>C (p.Pro253=)
c.343-17813A>C (n.343-17813A>C)
c.714A>C (p.Pro238=)
11g.34966757A>GCA473615559PDHXc.579A>G (p.Pro193=)
c.759A>G (p.Pro253=)
c.343-17813A>G (n.343-17813A>G)
c.714A>G (p.Pro238=)
 dbSNP gnomAD v2 gnomAD v4
11g.34966757A>TCA473615560PDHXc.579A>T (p.Pro193=)
c.759A>T (p.Pro253=)
c.343-17813A>T (n.343-17813A>T)
c.714A>T (p.Pro238=)
11g.34966758T>ACA380120705PDHXc.580T>A (p.Ser194Thr)
c.760T>A (p.Ser254Thr)
c.343-17812T>A (n.343-17812T>A)
c.715T>A (p.Ser239Thr)
11g.34966758T>CCA380120706PDHXc.580T>C (p.Ser194Pro)
c.760T>C (p.Ser254Pro)
c.343-17812T>C (n.343-17812T>C)
c.715T>C (p.Ser239Pro)
11g.34966758T>GCA380120707PDHXc.580T>G (p.Ser194Ala)
c.760T>G (p.Ser254Ala)
c.343-17812T>G (n.343-17812T>G)
c.715T>G (p.Ser239Ala)
11g.34966759C>ACA380120708PDHXc.581C>A (p.Ser194Tyr)
c.761C>A (p.Ser254Tyr)
c.343-17811C>A (n.343-17811C>A)
c.716C>A (p.Ser239Tyr)
 dbSNP
11g.34966759C=CA1963501857PDHXc.581C= (p.Ser194=)
c.761C= (p.Ser254=)
c.343-17811C= (n.343-17811C=)
c.716C= (p.Ser239=)
11g.34966759C>GCA380120709PDHXc.581C>G (p.Ser194Cys)
c.761C>G (p.Ser254Cys)
c.343-17811C>G (n.343-17811C>G)
c.716C>G (p.Ser239Cys)
11g.34966759C>TCA380120710PDHXc.581C>T (p.Ser194Phe)
c.761C>T (p.Ser254Phe)
c.343-17811C>T (n.343-17811C>T)
c.716C>T (p.Ser239Phe)
 gnomAD v4
11g.34966760T>ACA473615561PDHXc.582T>A (p.Ser194=)
c.762T>A (p.Ser254=)
c.343-17810T>A (n.343-17810T>A)
c.717T>A (p.Ser239=)
11g.34966760T>CCA473615562PDHXc.582T>C (p.Ser194=)
c.762T>C (p.Ser254=)
c.343-17810T>C (n.343-17810T>C)
c.717T>C (p.Ser239=)
11g.34966760T>GCA473615563PDHXc.582T>G (p.Ser194=)
c.762T>G (p.Ser254=)
c.343-17810T>G (n.343-17810T>G)
c.717T>G (p.Ser239=)
11g.34966761T>ACA380120712PDHXc.583T>A (p.Tyr195Asn)
c.763T>A (p.Tyr255Asn)
c.343-17809T>A (n.343-17809T>A)
c.718T>A (p.Tyr240Asn)
11g.34966761T>CCA380120713PDHXc.583T>C (p.Tyr195His)
c.763T>C (p.Tyr255His)
c.343-17809T>C (n.343-17809T>C)
c.718T>C (p.Tyr240His)
 dbSNP gnomAD v4
11g.34966761T>GCA380120711PDHXc.583T>G (p.Tyr195Asp)
c.763T>G (p.Tyr255Asp)
c.343-17809T>G (n.343-17809T>G)
c.718T>G (p.Tyr240Asp)
11g.34966761T=CA1963501859PDHXc.583T= (p.Tyr195=)
c.763T= (p.Tyr255=)
c.343-17809T= (n.343-17809T=)
c.718T= (p.Tyr240=)
11g.34966762A>CCA380120714PDHXc.584A>C (p.Tyr195Ser)
c.764A>C (p.Tyr255Ser)
c.343-17808A>C (n.343-17808A>C)
c.719A>C (p.Tyr240Ser)
11g.34966762A>GCA380120716PDHXc.584A>G (p.Tyr195Cys)
c.764A>G (p.Tyr255Cys)
c.343-17808A>G (n.343-17808A>G)
c.719A>G (p.Tyr240Cys)
11g.34966762A>TCA380120715PDHXc.584A>T (p.Tyr195Phe)
c.764A>T (p.Tyr255Phe)
c.343-17808A>T (n.343-17808A>T)
c.719A>T (p.Tyr240Phe)
 gnomAD v4
11g.34966763delCA2574798242PDHXc.585del (p.Arg197GlyfsTer3)
c.765del (p.Arg257GlyfsTer3)
c.343-17807del (n.343-17807del)
c.720del (p.Arg242GlyfsTer3)
11g.34966763T>ACA380120717PDHXc.585T>A (p.Tyr195Ter)
c.765T>A (p.Tyr255Ter)
c.343-17807T>A (n.343-17807T>A)
c.720T>A (p.Tyr240Ter)
11g.34966763T>CCA473615564PDHXc.585T>C (p.Tyr195=)
c.765T>C (p.Tyr255=)
c.343-17807T>C (n.343-17807T>C)
c.720T>C (p.Tyr240=)
 dbSNP gnomAD v2 gnomAD v4
11g.34966763T>GCA380120718PDHXc.585T>G (p.Tyr195Ter)
c.765T>G (p.Tyr255Ter)
c.343-17807T>G (n.343-17807T>G)
c.720T>G (p.Tyr240Ter)
11g.34966763T=CA1963501861PDHXc.585T= (p.Tyr195=)
c.765T= (p.Tyr255=)
c.343-17807T= (n.343-17807T=)
c.720T= (p.Tyr240=)
11g.34966764C>ACA380120722PDHXc.586C>A (p.Pro196Thr)
c.766C>A (p.Pro256Thr)
c.343-17806C>A (n.343-17806C>A)
c.721C>A (p.Pro241Thr)
 gnomAD v4
11g.34966764C=CA1963501864PDHXc.586C= (p.Pro196=)
c.766C= (p.Pro256=)
c.343-17806C= (n.343-17806C=)
c.721C= (p.Pro241=)
11g.34966764C>GCA380120726PDHXc.586C>G (p.Pro196Ala)
c.766C>G (p.Pro256Ala)
c.343-17806C>G (n.343-17806C>G)
c.721C>G (p.Pro241Ala)
11g.34966764C>TCA5945985PDHXc.586C>T (p.Pro196Ser)
c.766C>T (p.Pro256Ser)
c.343-17806C>T (n.343-17806C>T)
c.721C>T (p.Pro241Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966765C>ACA380120728PDHXc.587C>A (p.Pro196His)
c.767C>A (p.Pro256His)
c.343-17805C>A (n.343-17805C>A)
c.722C>A (p.Pro241His)
11g.34966765C>GCA380120730PDHXc.587C>G (p.Pro196Arg)
c.767C>G (p.Pro256Arg)
c.343-17805C>G (n.343-17805C>G)
c.722C>G (p.Pro241Arg)
11g.34966765C>TCA380120732PDHXc.587C>T (p.Pro196Leu)
c.767C>T (p.Pro256Leu)
c.343-17805C>T (n.343-17805C>T)
c.722C>T (p.Pro241Leu)
 ClinVar gnomAD v4
11g.34966766C>ACA473615565PDHXc.588C>A (p.Pro196=)
c.768C>A (p.Pro256=)
c.343-17804C>A (n.343-17804C>A)
c.723C>A (p.Pro241=)
11g.34966766C=CA1963501869PDHXc.588C= (p.Pro196=)
c.768C= (p.Pro256=)
c.343-17804C= (n.343-17804C=)
c.723C= (p.Pro241=)
11g.34966766C>GCA473615566PDHXc.588C>G (p.Pro196=)
c.768C>G (p.Pro256=)
c.343-17804C>G (n.343-17804C>G)
c.723C>G (p.Pro241=)
11g.34966766C>TCA473615567PDHXc.588C>T (p.Pro196=)
c.768C>T (p.Pro256=)
c.343-17804C>T (n.343-17804C>T)
c.723C>T (p.Pro241=)
 dbSNP gnomAD v4
11g.34966767C>ACA473615568PDHXc.589C>A (p.Arg197=)
c.769C>A (p.Arg257=)
c.343-17803C>A (n.343-17803C>A)
c.724C>A (p.Arg242=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.34966767C=CA1963501874PDHXc.589C= (p.Arg197=)
c.769C= (p.Arg257=)
c.343-17803C= (n.343-17803C=)
c.724C= (p.Arg242=)
11g.34966767C>GCA380120735PDHXc.589C>G (p.Arg197Gly)
c.769C>G (p.Arg257Gly)
c.343-17803C>G (n.343-17803C>G)
c.724C>G (p.Arg242Gly)
11g.34966767C>TCA5945986PDHXc.589C>T (p.Arg197Trp)
c.769C>T (p.Arg257Trp)
c.343-17803C>T (n.343-17803C>T)
c.724C>T (p.Arg242Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.34966768G>ACA5945987PDHXc.590G>A (p.Arg197Gln)
c.770G>A (p.Arg257Gln)
c.343-17802G>A (n.343-17802G>A)
c.725G>A (p.Arg242Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966768G>CCA380120743PDHXc.590G>C (p.Arg197Pro)
c.770G>C (p.Arg257Pro)
c.343-17802G>C (n.343-17802G>C)
c.725G>C (p.Arg242Pro)
 dbSNP gnomAD v3 gnomAD v4
11g.34966768G=CA1963501880PDHXc.590G= (p.Arg197=)
c.770G= (p.Arg257=)
c.343-17802G= (n.343-17802G=)
c.725G= (p.Arg242=)
11g.34966768G>TCA380120740PDHXc.590G>T (p.Arg197Leu)
c.770G>T (p.Arg257Leu)
c.343-17802G>T (n.343-17802G>T)
c.725G>T (p.Arg242Leu)
11g.34966769G>ACA473615569PDHXc.591G>A (p.Arg197=)
c.771G>A (p.Arg257=)
c.343-17801G>A (n.343-17801G>A)
c.726G>A (p.Arg242=)
 dbSNP gnomAD v2 gnomAD v4
11g.34966769G>CCA473615570PDHXc.591G>C (p.Arg197=)
c.771G>C (p.Arg257=)
c.343-17801G>C (n.343-17801G>C)
c.726G>C (p.Arg242=)
11g.34966769G=CA1963501884PDHXc.591G= (p.Arg197=)
c.771G= (p.Arg257=)
c.343-17801G= (n.343-17801G=)
c.726G= (p.Arg242=)
11g.34966769G>TCA473615571PDHXc.591G>T (p.Arg197=)
c.771G>T (p.Arg257=)
c.343-17801G>T (n.343-17801G>T)
c.726G>T (p.Arg242=)
11g.34966770C>ACA380120747PDHXc.592C>A (p.Pro198Thr)
c.772C>A (p.Pro258Thr)
c.343-17800C>A (n.343-17800C>A)
c.727C>A (p.Pro243Thr)
 gnomAD v4
11g.34966770C=CA1963501889PDHXc.592C= (p.Pro198=)
c.772C= (p.Pro258=)
c.343-17800C= (n.343-17800C=)
c.727C= (p.Pro243=)
11g.34966770C>GCA380120750PDHXc.592C>G (p.Pro198Ala)
c.772C>G (p.Pro258Ala)
c.343-17800C>G (n.343-17800C>G)
c.727C>G (p.Pro243Ala)
 dbSNP
11g.34966770C>TCA380120752PDHXc.592C>T (p.Pro198Ser)
c.772C>T (p.Pro258Ser)
c.343-17800C>T (n.343-17800C>T)
c.727C>T (p.Pro243Ser)
 dbSNP COSMIC
11g.34966771C>ACA380120755PDHXc.593C>A (p.Pro198His)
c.773C>A (p.Pro258His)
c.343-17799C>A (n.343-17799C>A)
c.728C>A (p.Pro243His)
11g.34966771C=CA1963501890PDHXc.593C= (p.Pro198=)
c.773C= (p.Pro258=)
c.343-17799C= (n.343-17799C=)
c.728C= (p.Pro243=)
11g.34966771C>GCA380120757PDHXc.593C>G (p.Pro198Arg)
c.773C>G (p.Pro258Arg)
c.343-17799C>G (n.343-17799C>G)
c.728C>G (p.Pro243Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.34966771C>TCA380120759PDHXc.593C>T (p.Pro198Leu)
c.773C>T (p.Pro258Leu)
c.343-17799C>T (n.343-17799C>T)
c.728C>T (p.Pro243Leu)
11g.34966772T>ACA473615572PDHXc.594T>A (p.Pro198=)
c.774T>A (p.Pro258=)
c.343-17798T>A (n.343-17798T>A)
c.729T>A (p.Pro243=)
11g.34966772T>CCA473615573PDHXc.594T>C (p.Pro198=)
c.774T>C (p.Pro258=)
c.343-17798T>C (n.343-17798T>C)
c.729T>C (p.Pro243=)
11g.34966772T>GCA473615574PDHXc.594T>G (p.Pro198=)
c.774T>G (p.Pro258=)
c.343-17798T>G (n.343-17798T>G)
c.729T>G (p.Pro243=)
11g.34966773G>ACA380120762PDHXc.595G>A (p.Val199Met)
c.775G>A (p.Val259Met)
c.343-17797G>A (n.343-17797G>A)
c.730G>A (p.Val244Met)
11g.34966773G>CCA380120766PDHXc.595G>C (p.Val199Leu)
c.775G>C (p.Val259Leu)
c.343-17797G>C (n.343-17797G>C)
c.730G>C (p.Val244Leu)
11g.34966773G>TCA380120764PDHXc.595G>T (p.Val199Leu)
c.775G>T (p.Val259Leu)
c.343-17797G>T (n.343-17797G>T)
c.730G>T (p.Val244Leu)
 gnomAD v4
11g.34966774T>ACA380120769PDHXc.596T>A (p.Val199Glu)
c.776T>A (p.Val259Glu)
c.343-17796T>A (n.343-17796T>A)
c.731T>A (p.Val244Glu)
 ClinVar dbSNP gnomAD v4
11g.34966774T>CCA380120771PDHXc.596T>C (p.Val199Ala)
c.776T>C (p.Val259Ala)
c.343-17796T>C (n.343-17796T>C)
c.731T>C (p.Val244Ala)
 dbSNP
11g.34966774T>GCA380120773PDHXc.596T>G (p.Val199Gly)
c.776T>G (p.Val259Gly)
c.343-17796T>G (n.343-17796T>G)
c.731T>G (p.Val244Gly)
11g.34966774T=CA1963501893PDHXc.596T= (p.Val199=)
c.776T= (p.Val259=)
c.343-17796T= (n.343-17796T=)
c.731T= (p.Val244=)
11g.34966775G>ACA473615575PDHXc.597G>A (p.Val199=)
c.777G>A (p.Val259=)
c.343-17795G>A (n.343-17795G>A)
c.732G>A (p.Val244=)
11g.34966775G>CCA473615576PDHXc.597G>C (p.Val199=)
c.777G>C (p.Val259=)
c.343-17795G>C (n.343-17795G>C)
c.732G>C (p.Val244=)
 gnomAD v4
11g.34966775G>TCA473615577PDHXc.597G>T (p.Val199=)
c.777G>T (p.Val259=)
c.343-17795G>T (n.343-17795G>T)
c.732G>T (p.Val244=)
11g.34966776A>CCA380120776PDHXc.598A>C (p.Ile200Leu)
c.778A>C (p.Ile260Leu)
c.343-17794A>C (n.343-17794A>C)
c.733A>C (p.Ile245Leu)
11g.34966776A>GCA380120778PDHXc.598A>G (p.Ile200Val)
c.778A>G (p.Ile260Val)
c.343-17794A>G (n.343-17794A>G)
c.733A>G (p.Ile245Val)
11g.34966776A>TCA380120780PDHXc.598A>T (p.Ile200Phe)
c.778A>T (p.Ile260Phe)
c.343-17794A>T (n.343-17794A>T)
c.733A>T (p.Ile245Phe)
11g.34966777T>ACA380120784PDHXc.599T>A (p.Ile200Asn)
c.779T>A (p.Ile260Asn)
c.343-17793T>A (n.343-17793T>A)
c.734T>A (p.Ile245Asn)
11g.34966777T>CCA380120787PDHXc.599T>C (p.Ile200Thr)
c.779T>C (p.Ile260Thr)
c.343-17793T>C (n.343-17793T>C)
c.734T>C (p.Ile245Thr)
11g.34966777T>GCA380120789PDHXc.599T>G (p.Ile200Ser)
c.779T>G (p.Ile260Ser)
c.343-17793T>G (n.343-17793T>G)
c.734T>G (p.Ile245Ser)
11g.34966778C>ACA473615578PDHXc.600C>A (p.Ile200=)
c.780C>A (p.Ile260=)
c.343-17792C>A (n.343-17792C>A)
c.735C>A (p.Ile245=)
11g.34966778C=CA1963501897PDHXc.600C= (p.Ile200=)
c.780C= (p.Ile260=)
c.343-17792C= (n.343-17792C=)
c.735C= (p.Ile245=)
11g.34966778C>GCA380120792PDHXc.600C>G (p.Ile200Met)
c.780C>G (p.Ile260Met)
c.343-17792C>G (n.343-17792C>G)
c.735C>G (p.Ile245Met)
11g.34966778C>TCA5945988PDHXc.600C>T (p.Ile200=)
c.780C>T (p.Ile260=)
c.343-17792C>T (n.343-17792C>T)
c.735C>T (p.Ile245=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966779C>ACA380120796PDHXc.601C>A (p.Pro201Thr)
c.781C>A (p.Pro261Thr)
c.343-17791C>A (n.343-17791C>A)
c.736C>A (p.Pro246Thr)
 gnomAD v4
11g.34966779C>GCA380120800PDHXc.601C>G (p.Pro201Ala)
c.781C>G (p.Pro261Ala)
c.343-17791C>G (n.343-17791C>G)
c.736C>G (p.Pro246Ala)
11g.34966779C>TCA380120799PDHXc.601C>T (p.Pro201Ser)
c.781C>T (p.Pro261Ser)
c.343-17791C>T (n.343-17791C>T)
c.736C>T (p.Pro246Ser)
 gnomAD v4
11g.34966780C>ACA380120803PDHXc.602C>A (p.Pro201Gln)
c.782C>A (p.Pro261Gln)
c.343-17790C>A (n.343-17790C>A)
c.737C>A (p.Pro246Gln)
11g.34966780C>GCA380120805PDHXc.602C>G (p.Pro201Arg)
c.782C>G (p.Pro261Arg)
c.343-17790C>G (n.343-17790C>G)
c.737C>G (p.Pro246Arg)
11g.34966780C>TCA380120807PDHXc.602C>T (p.Pro201Leu)
c.782C>T (p.Pro261Leu)
c.343-17790C>T (n.343-17790C>T)
c.737C>T (p.Pro246Leu)
11g.34966781A>CCA473615579PDHXc.603A>C (p.Pro201=)
c.783A>C (p.Pro261=)
c.343-17789A>C (n.343-17789A>C)
c.738A>C (p.Pro246=)
11g.34966781A>GCA473615580PDHXc.603A>G (p.Pro201=)
c.783A>G (p.Pro261=)
c.343-17789A>G (n.343-17789A>G)
c.738A>G (p.Pro246=)
11g.34966781A>TCA473615581PDHXc.603A>T (p.Pro201=)
c.783A>T (p.Pro261=)
c.343-17789A>T (n.343-17789A>T)
c.738A>T (p.Pro246=)
11g.34966782C>ACA380120810PDHXc.604C>A (p.Pro202Thr)
c.784C>A (p.Pro262Thr)
c.343-17788C>A (n.343-17788C>A)
c.739C>A (p.Pro247Thr)
11g.34966782C>GCA380120812PDHXc.604C>G (p.Pro202Ala)
c.784C>G (p.Pro262Ala)
c.343-17788C>G (n.343-17788C>G)
c.739C>G (p.Pro247Ala)
11g.34966782C>TCA380120815PDHXc.604C>T (p.Pro202Ser)
c.784C>T (p.Pro262Ser)
c.343-17788C>T (n.343-17788C>T)
c.739C>T (p.Pro247Ser)
11g.34966783C>ACA380120818PDHXc.605C>A (p.Pro202Gln)
c.785C>A (p.Pro262Gln)
c.343-17787C>A (n.343-17787C>A)
c.740C>A (p.Pro247Gln)
11g.34966783C>GCA380120820PDHXc.605C>G (p.Pro202Arg)
c.785C>G (p.Pro262Arg)
c.343-17787C>G (n.343-17787C>G)
c.740C>G (p.Pro247Arg)
11g.34966783C>TCA380120823PDHXc.605C>T (p.Pro202Leu)
c.785C>T (p.Pro262Leu)
c.343-17787C>T (n.343-17787C>T)
c.740C>T (p.Pro247Leu)
11g.34966784A=CA1963501900PDHXc.606A= (p.Pro202=)
c.786A= (p.Pro262=)
c.343-17786A= (n.343-17786A=)
c.741A= (p.Pro247=)
11g.34966784A>CCA473615584PDHXc.606A>C (p.Pro202=)
c.786A>C (p.Pro262=)
c.343-17786A>C (n.343-17786A>C)
c.741A>C (p.Pro247=)
11g.34966784A>GCA473615583PDHXc.606A>G (p.Pro202=)
c.786A>G (p.Pro262=)
c.343-17786A>G (n.343-17786A>G)
c.741A>G (p.Pro247=)
 ClinVar dbSNP gnomAD v4
11g.34966784A>TCA473615582PDHXc.606A>T (p.Pro202=)
c.786A>T (p.Pro262=)
c.343-17786A>T (n.343-17786A>T)
c.741A>T (p.Pro247=)
 gnomAD v4
11g.34966785G>ACA380120824PDHXc.607G>A (p.Val203Ile)
c.787G>A (p.Val263Ile)
c.343-17785G>A (n.343-17785G>A)
c.742G>A (p.Val248Ile)
11g.34966785G>CCA380120825PDHXc.607G>C (p.Val203Leu)
c.787G>C (p.Val263Leu)
c.343-17785G>C (n.343-17785G>C)
c.742G>C (p.Val248Leu)
11g.34966785G>TCA380120826PDHXc.607G>T (p.Val203Leu)
c.787G>T (p.Val263Leu)
c.343-17785G>T (n.343-17785G>T)
c.742G>T (p.Val248Leu)
11g.34966786T>ACA380120829PDHXc.608T>A (p.Val203Glu)
c.788T>A (p.Val263Glu)
c.343-17784T>A (n.343-17784T>A)
c.743T>A (p.Val248Glu)
11g.34966786T>CCA5945990PDHXc.608T>C (p.Val203Ala)
c.788T>C (p.Val263Ala)
c.343-17784T>C (n.343-17784T>C)
c.743T>C (p.Val248Ala)
 dbSNP ExAC gnomAD v4
11g.34966786T>GCA5945989PDHXc.608T>G (p.Val203Gly)
c.788T>G (p.Val263Gly)
c.343-17784T>G (n.343-17784T>G)
c.743T>G (p.Val248Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966786T=CA1963501903PDHXc.608T= (p.Val203=)
c.788T= (p.Val263=)
c.343-17784T= (n.343-17784T=)
c.743T= (p.Val248=)
11g.34966787A=CA1963501908PDHXc.609A= (p.Val203=)
c.789A= (p.Val263=)
c.343-17783A= (n.343-17783A=)
c.744A= (p.Val248=)
11g.34966787A>CCA473615588PDHXc.609A>C (p.Val203=)
c.789A>C (p.Val263=)
c.343-17783A>C (n.343-17783A>C)
c.744A>C (p.Val248=)
11g.34966787A>GCA220466423PDHXc.609A>G (p.Val203=)
c.789A>G (p.Val263=)
c.343-17783A>G (n.343-17783A>G)
c.744A>G (p.Val248=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.34966787A>TCA473615585PDHXc.609A>T (p.Val203=)
c.789A>T (p.Val263=)
c.343-17783A>T (n.343-17783A>T)
c.744A>T (p.Val248=)
11g.34966788T>ACA380120833PDHXc.610T>A (p.Ser204Thr)
c.790T>A (p.Ser264Thr)
c.343-17782T>A (n.343-17782T>A)
c.745T>A (p.Ser249Thr)
11g.34966788T>CCA380120834PDHXc.610T>C (p.Ser204Pro)
c.790T>C (p.Ser264Pro)
c.343-17782T>C (n.343-17782T>C)
c.745T>C (p.Ser249Pro)
11g.34966788T>GCA380120836PDHXc.610T>G (p.Ser204Ala)
c.790T>G (p.Ser264Ala)
c.343-17782T>G (n.343-17782T>G)
c.745T>G (p.Ser249Ala)
11g.34966789C>ACA380120838PDHXc.611C>A (p.Ser204Ter)
c.791C>A (p.Ser264Ter)
c.343-17781C>A (n.343-17781C>A)
c.746C>A (p.Ser249Ter)
11g.34966789C=CA1963501914PDHXc.611C= (p.Ser204=)
c.791C= (p.Ser264=)
c.343-17781C= (n.343-17781C=)
c.746C= (p.Ser249=)
11g.34966789C>GCA380120840PDHXc.611C>G (p.Ser204Ter)
c.791C>G (p.Ser264Ter)
c.343-17781C>G (n.343-17781C>G)
c.746C>G (p.Ser249Ter)
 ClinVar dbSNP
11g.34966789C>TCA5945991PDHXc.611C>T (p.Ser204Leu)
c.791C>T (p.Ser264Leu)
c.343-17781C>T (n.343-17781C>T)
c.746C>T (p.Ser249Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.34966790A>CCA473615590PDHXc.612A>C (p.Ser204=)
c.792A>C (p.Ser264=)
c.343-17780A>C (n.343-17780A>C)
c.747A>C (p.Ser249=)
11g.34966790A>GCA473615593PDHXc.612A>G (p.Ser204=)
c.792A>G (p.Ser264=)
c.343-17780A>G (n.343-17780A>G)
c.747A>G (p.Ser249=)
11g.34966790A>TCA473615591PDHXc.612A>T (p.Ser204=)
c.792A>T (p.Ser264=)
c.343-17780A>T (n.343-17780A>T)
c.747A>T (p.Ser249=)
11g.34966791dupCA16042850PDHXc.613dup (p.Thr205AsnfsTer13)
c.793dup (p.Thr265AsnfsTer13)
c.343-17779dup (n.343-17779dup)
c.748dup (p.Thr250AsnfsTer13)
 ClinVar dbSNP
11g.34966791A=CA1963501923PDHXc.613A= (p.Thr205=)
c.793A= (p.Thr265=)
c.343-17779A= (n.343-17779A=)
c.748A= (p.Thr250=)
11g.34966791A>CCA380120845PDHXc.613A>C (p.Thr205Pro)
c.793A>C (p.Thr265Pro)
c.343-17779A>C (n.343-17779A>C)
c.748A>C (p.Thr250Pro)
11g.34966791A>GCA5945992PDHXc.613A>G (p.Thr205Ala)
c.793A>G (p.Thr265Ala)
c.343-17779A>G (n.343-17779A>G)
c.748A>G (p.Thr250Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.34966791A>TCA380120848PDHXc.613A>T (p.Thr205Ser)
c.793A>T (p.Thr265Ser)
c.343-17779A>T (n.343-17779A>T)
c.748A>T (p.Thr250Ser)
11g.34966792C>ACA380120851PDHXc.614C>A (p.Thr205Asn)
c.794C>A (p.Thr265Asn)
c.343-17778C>A (n.343-17778C>A)
c.749C>A (p.Thr250Asn)
11g.34966792C=CA1963501929PDHXc.614C= (p.Thr205=)
c.794C= (p.Thr265=)
c.343-17778C= (n.343-17778C=)
c.749C= (p.Thr250=)
11g.34966792C>GCA5945993PDHXc.614C>G (p.Thr205Ser)
c.794C>G (p.Thr265Ser)
c.343-17778C>G (n.343-17778C>G)
c.749C>G (p.Thr250Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966792C>TCA380120850PDHXc.614C>T (p.Thr205Ile)
c.794C>T (p.Thr265Ile)
c.343-17778C>T (n.343-17778C>T)
c.749C>T (p.Thr250Ile)
 ClinVar dbSNP
11g.34966793T>ACA473615596PDHXc.615T>A (p.Thr205=)
c.795T>A (p.Thr265=)
c.343-17777T>A (n.343-17777T>A)
c.750T>A (p.Thr250=)
11g.34966793T>CCA473615597PDHXc.615T>C (p.Thr205=)
c.795T>C (p.Thr265=)
c.343-17777T>C (n.343-17777T>C)
c.750T>C (p.Thr250=)
11g.34966793T>GCA473615598PDHXc.615T>G (p.Thr205=)
c.795T>G (p.Thr265=)
c.343-17777T>G (n.343-17777T>G)
c.750T>G (p.Thr250=)

Number of alleles fetched