Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.19355372C>ACA412394336PDHA1c.648C>A (p.Asn216Lys)
c.*319C>A (n.*319C>A)
c.711C>A (p.Asn237Lys)
c.741C>A (p.Asn247Lys)
n.422C>A
c.442C>A (p.His148Asn)
c.*82C>A (n.*82C>A)
c.627C>A (p.Asn209Lys)
n.462C>A
n.55C>A
c.534C>A (p.Asn178Lys)
c.762C>A (p.Asn254Lys)
c.669C>A (p.Asn223Lys)
Xg.19355372C=CA2418223595PDHA1c.648C= (p.Asn216=)
c.*319C= (n.*319C=)
c.711C= (p.Asn237=)
c.741C= (p.Asn247=)
n.422C=
c.442C= (p.His148=)
c.*82C= (n.*82C=)
c.627C= (p.Asn209=)
n.462C=
n.55C=
c.534C= (p.Asn178=)
c.762C= (p.Asn254=)
c.669C= (p.Asn223=)
Xg.19355372C>GCA412394334PDHA1c.648C>G (p.Asn216Lys)
c.*319C>G (n.*319C>G)
c.711C>G (p.Asn237Lys)
c.741C>G (p.Asn247Lys)
n.422C>G
c.442C>G (p.His148Asp)
c.*82C>G (n.*82C>G)
c.627C>G (p.Asn209Lys)
n.462C>G
n.55C>G
c.534C>G (p.Asn178Lys)
c.762C>G (p.Asn254Lys)
c.669C>G (p.Asn223Lys)
Xg.19355372C>TCA515485994PDHA1c.648C>T (p.Asn216=)
c.*319C>T (n.*319C>T)
c.711C>T (p.Asn237=)
c.741C>T (p.Asn247=)
n.422C>T
c.442C>T (p.His148Tyr)
c.*82C>T (n.*82C>T)
c.627C>T (p.Asn209=)
n.462C>T
n.55C>T
c.534C>T (p.Asn178=)
c.762C>T (p.Asn254=)
c.669C>T (p.Asn223=)
 dbSNP
Xg.19355373A=CA2418223596PDHA1c.649A= (p.Met217=)
c.*320A= (n.*320A=)
c.712A= (p.Met238=)
c.742A= (p.Met248=)
n.423A=
c.443A= (p.His148=)
c.*83A= (n.*83A=)
c.628A= (p.Met210=)
n.463A=
n.56A=
c.535A= (p.Met179=)
c.763A= (p.Met255=)
c.670A= (p.Met224=)
Xg.19355373A>CCA412394338PDHA1c.649A>C (p.Met217Leu)
c.*320A>C (n.*320A>C)
c.712A>C (p.Met238Leu)
c.742A>C (p.Met248Leu)
n.423A>C
c.443A>C (p.His148Pro)
c.*83A>C (n.*83A>C)
c.628A>C (p.Met210Leu)
n.463A>C
n.56A>C
c.535A>C (p.Met179Leu)
c.763A>C (p.Met255Leu)
c.670A>C (p.Met224Leu)
Xg.19355373A>GCA247055PDHA1c.649A>G (p.Met217Val)
c.*320A>G (n.*320A>G)
c.712A>G (p.Met238Val)
c.742A>G (p.Met248Val)
n.423A>G
c.443A>G (p.His148Arg)
c.*83A>G (n.*83A>G)
c.628A>G (p.Met210Val)
n.463A>G
n.56A>G
c.535A>G (p.Met179Val)
c.763A>G (p.Met255Val)
c.670A>G (p.Met224Val)
 ClinVar dbSNP
Xg.19355373A>TCA412394341PDHA1c.649A>T (p.Met217Leu)
c.*320A>T (n.*320A>T)
c.712A>T (p.Met238Leu)
c.742A>T (p.Met248Leu)
n.423A>T
c.443A>T (p.His148Leu)
c.*83A>T (n.*83A>T)
c.628A>T (p.Met210Leu)
n.463A>T
n.56A>T
c.535A>T (p.Met179Leu)
c.763A>T (p.Met255Leu)
c.670A>T (p.Met224Leu)
Xg.19355374T>ACA412394343PDHA1c.650T>A (p.Met217Lys)
c.*321T>A (n.*321T>A)
c.713T>A (p.Met238Lys)
c.743T>A (p.Met248Lys)
n.424T>A
c.444T>A (p.His148Gln)
c.*84T>A (n.*84T>A)
c.629T>A (p.Met210Lys)
n.464T>A
n.57T>A
c.536T>A (p.Met179Lys)
c.764T>A (p.Met255Lys)
c.671T>A (p.Met224Lys)
Xg.19355374T>CCA412394345PDHA1c.650T>C (p.Met217Thr)
c.*321T>C (n.*321T>C)
c.713T>C (p.Met238Thr)
c.743T>C (p.Met248Thr)
n.424T>C
c.444T>C (p.His148=)
c.*84T>C (n.*84T>C)
c.629T>C (p.Met210Thr)
n.464T>C
n.57T>C
c.536T>C (p.Met179Thr)
c.764T>C (p.Met255Thr)
c.671T>C (p.Met224Thr)
Xg.19355374T>GCA412394347PDHA1c.650T>G (p.Met217Arg)
c.*321T>G (n.*321T>G)
c.713T>G (p.Met238Arg)
c.743T>G (p.Met248Arg)
n.424T>G
c.444T>G (p.His148Gln)
c.*84T>G (n.*84T>G)
c.629T>G (p.Met210Arg)
n.464T>G
n.57T>G
c.536T>G (p.Met179Arg)
c.764T>G (p.Met255Arg)
c.671T>G (p.Met224Arg)
Xg.19355375G>ACA412394348PDHA1c.651G>A (p.Met217Ile)
c.*322G>A (n.*322G>A)
c.714G>A (p.Met238Ile)
c.744G>A (p.Met248Ile)
n.425G>A
c.445G>A (p.Gly149Ser)
c.*85G>A (n.*85G>A)
c.630G>A (p.Met210Ile)
n.465G>A
n.58G>A
c.537G>A (p.Met179Ile)
c.765G>A (p.Met255Ile)
c.672G>A (p.Met224Ile)
Xg.19355375G>CCA412394349PDHA1c.651G>C (p.Met217Ile)
c.*322G>C (n.*322G>C)
c.714G>C (p.Met238Ile)
c.744G>C (p.Met248Ile)
n.425G>C
c.445G>C (p.Gly149Arg)
c.*85G>C (n.*85G>C)
c.630G>C (p.Met210Ile)
n.465G>C
n.58G>C
c.537G>C (p.Met179Ile)
c.765G>C (p.Met255Ile)
c.672G>C (p.Met224Ile)
Xg.19355375G>TCA412394351PDHA1c.651G>T (p.Met217Ile)
c.*322G>T (n.*322G>T)
c.714G>T (p.Met238Ile)
c.744G>T (p.Met248Ile)
n.425G>T
c.445G>T (p.Gly149Cys)
c.*85G>T (n.*85G>T)
c.630G>T (p.Met210Ile)
n.465G>T
n.58G>T
c.537G>T (p.Met179Ile)
c.765G>T (p.Met255Ile)
c.672G>T (p.Met224Ile)
 ClinVar dbSNP
Xg.19355376G>ACA412394353PDHA1c.652G>A (p.Ala218Thr)
c.*323G>A (n.*323G>A)
c.715G>A (p.Ala239Thr)
c.745G>A (p.Ala249Thr)
n.426G>A
c.446G>A (p.Gly149Asp)
c.*86G>A (n.*86G>A)
c.631G>A (p.Ala211Thr)
n.466G>A
n.59G>A
c.538G>A (p.Ala180Thr)
c.766G>A (p.Ala256Thr)
c.673G>A (p.Ala225Thr)
 gnomAD v4
Xg.19355376G>CCA412394355PDHA1c.652G>C (p.Ala218Pro)
c.*323G>C (n.*323G>C)
c.715G>C (p.Ala239Pro)
c.745G>C (p.Ala249Pro)
n.426G>C
c.446G>C (p.Gly149Ala)
c.*86G>C (n.*86G>C)
c.631G>C (p.Ala211Pro)
n.466G>C
n.59G>C
c.538G>C (p.Ala180Pro)
c.766G>C (p.Ala256Pro)
c.673G>C (p.Ala225Pro)
Xg.19355376G>TCA412394357PDHA1c.652G>T (p.Ala218Ser)
c.*323G>T (n.*323G>T)
c.715G>T (p.Ala239Ser)
c.745G>T (p.Ala249Ser)
n.426G>T
c.446G>T (p.Gly149Val)
c.*86G>T (n.*86G>T)
c.631G>T (p.Ala211Ser)
n.466G>T
n.59G>T
c.538G>T (p.Ala180Ser)
c.766G>T (p.Ala256Ser)
c.673G>T (p.Ala225Ser)
Xg.19355377C>ACA412394361PDHA1c.653C>A (p.Ala218Glu)
c.*324C>A (n.*324C>A)
c.716C>A (p.Ala239Glu)
c.746C>A (p.Ala249Glu)
n.427C>A
c.447C>A (p.Gly149=)
c.*87C>A (n.*87C>A)
c.632C>A (p.Ala211Glu)
n.467C>A
n.60C>A
c.539C>A (p.Ala180Glu)
c.767C>A (p.Ala256Glu)
c.674C>A (p.Ala225Glu)
Xg.19355377C>GCA412394363PDHA1c.653C>G (p.Ala218Gly)
c.*324C>G (n.*324C>G)
c.716C>G (p.Ala239Gly)
c.746C>G (p.Ala249Gly)
n.427C>G
c.447C>G (p.Gly149=)
c.*87C>G (n.*87C>G)
c.632C>G (p.Ala211Gly)
n.467C>G
n.60C>G
c.539C>G (p.Ala180Gly)
c.767C>G (p.Ala256Gly)
c.674C>G (p.Ala225Gly)
Xg.19355377C>TCA412394359PDHA1c.653C>T (p.Ala218Val)
c.*324C>T (n.*324C>T)
c.716C>T (p.Ala239Val)
c.746C>T (p.Ala249Val)
n.427C>T
c.447C>T (p.Gly149=)
c.*87C>T (n.*87C>T)
c.632C>T (p.Ala211Val)
n.467C>T
n.60C>T
c.539C>T (p.Ala180Val)
c.767C>T (p.Ala256Val)
c.674C>T (p.Ala225Val)
Xg.19355378A>CCA515485995PDHA1c.654A>C (p.Ala218=)
c.*325A>C (n.*325A>C)
c.717A>C (p.Ala239=)
c.747A>C (p.Ala249=)
n.428A>C
c.448A>C (p.Ser150Arg)
c.*88A>C (n.*88A>C)
c.633A>C (p.Ala211=)
n.468A>C
n.61A>C
c.540A>C (p.Ala180=)
c.768A>C (p.Ala256=)
c.675A>C (p.Ala225=)
Xg.19355378A>GCA515485996PDHA1c.654A>G (p.Ala218=)
c.*325A>G (n.*325A>G)
c.717A>G (p.Ala239=)
c.747A>G (p.Ala249=)
n.428A>G
c.448A>G (p.Ser150Gly)
c.*88A>G (n.*88A>G)
c.633A>G (p.Ala211=)
n.468A>G
n.61A>G
c.540A>G (p.Ala180=)
c.768A>G (p.Ala256=)
c.675A>G (p.Ala225=)
Xg.19355378A>TCA515485997PDHA1c.654A>T (p.Ala218=)
c.*325A>T (n.*325A>T)
c.717A>T (p.Ala239=)
c.747A>T (p.Ala249=)
n.428A>T
c.448A>T (p.Ser150Cys)
c.*88A>T (n.*88A>T)
c.633A>T (p.Ala211=)
n.468A>T
n.61A>T
c.540A>T (p.Ala180=)
c.768A>T (p.Ala256=)
c.675A>T (p.Ala225=)
Xg.19355379G>ACA412394366PDHA1c.655G>A (p.Ala219Thr)
c.*326G>A (n.*326G>A)
c.718G>A (p.Ala240Thr)
c.748G>A (p.Ala250Thr)
n.429G>A
c.449G>A (p.Ser150Asn)
c.*89G>A (n.*89G>A)
c.634G>A (p.Ala212Thr)
n.469G>A
n.62G>A
c.541G>A (p.Ala181Thr)
c.769G>A (p.Ala257Thr)
c.676G>A (p.Ala226Thr)
Xg.19355379G>CCA412394368PDHA1c.655G>C (p.Ala219Pro)
c.*326G>C (n.*326G>C)
c.718G>C (p.Ala240Pro)
c.748G>C (p.Ala250Pro)
n.429G>C
c.449G>C (p.Ser150Thr)
c.*89G>C (n.*89G>C)
c.634G>C (p.Ala212Pro)
n.469G>C
n.62G>C
c.541G>C (p.Ala181Pro)
c.769G>C (p.Ala257Pro)
c.676G>C (p.Ala226Pro)
Xg.19355379G>TCA412394370PDHA1c.655G>T (p.Ala219Ser)
c.*326G>T (n.*326G>T)
c.718G>T (p.Ala240Ser)
c.748G>T (p.Ala250Ser)
n.429G>T
c.449G>T (p.Ser150Ile)
c.*89G>T (n.*89G>T)
c.634G>T (p.Ala212Ser)
n.469G>T
n.62G>T
c.541G>T (p.Ala181Ser)
c.769G>T (p.Ala257Ser)
c.676G>T (p.Ala226Ser)
 COSMIC COSMIC
Xg.19355380C>ACA412394372PDHA1c.656C>A (p.Ala219Asp)
c.*327C>A (n.*327C>A)
c.719C>A (p.Ala240Asp)
c.749C>A (p.Ala250Asp)
n.430C>A
c.450C>A (p.Ser150Arg)
c.*90C>A (n.*90C>A)
c.635C>A (p.Ala212Asp)
n.470C>A
n.63C>A
c.542C>A (p.Ala181Asp)
c.770C>A (p.Ala257Asp)
c.677C>A (p.Ala226Asp)
Xg.19355380C>GCA412394374PDHA1c.656C>G (p.Ala219Gly)
c.*327C>G (n.*327C>G)
c.719C>G (p.Ala240Gly)
c.749C>G (p.Ala250Gly)
n.430C>G
c.450C>G (p.Ser150Arg)
c.*90C>G (n.*90C>G)
c.635C>G (p.Ala212Gly)
n.470C>G
n.63C>G
c.542C>G (p.Ala181Gly)
c.770C>G (p.Ala257Gly)
c.677C>G (p.Ala226Gly)
Xg.19355380C>TCA412394376PDHA1c.656C>T (p.Ala219Val)
c.*327C>T (n.*327C>T)
c.719C>T (p.Ala240Val)
c.749C>T (p.Ala250Val)
n.430C>T
c.450C>T (p.Ser150=)
c.*90C>T (n.*90C>T)
c.635C>T (p.Ala212Val)
n.470C>T
n.63C>T
c.542C>T (p.Ala181Val)
c.770C>T (p.Ala257Val)
c.677C>T (p.Ala226Val)
Xg.19355381T>ACA515485998PDHA1c.657T>A (p.Ala219=)
c.*328T>A (n.*328T>A)
c.720T>A (p.Ala240=)
c.750T>A (p.Ala250=)
n.431T>A
c.451T>A (p.Phe151Ile)
c.*91T>A (n.*91T>A)
c.636T>A (p.Ala212=)
n.471T>A
n.64T>A
c.543T>A (p.Ala181=)
c.771T>A (p.Ala257=)
c.678T>A (p.Ala226=)
 dbSNP
Xg.19355381T>CCA515485999PDHA1c.657T>C (p.Ala219=)
c.*328T>C (n.*328T>C)
c.720T>C (p.Ala240=)
c.750T>C (p.Ala250=)
n.431T>C
c.451T>C (p.Phe151Leu)
c.*91T>C (n.*91T>C)
c.636T>C (p.Ala212=)
n.471T>C
n.64T>C
c.543T>C (p.Ala181=)
c.771T>C (p.Ala257=)
c.678T>C (p.Ala226=)
Xg.19355381T>GCA515486000PDHA1c.657T>G (p.Ala219=)
c.*328T>G (n.*328T>G)
c.720T>G (p.Ala240=)
c.750T>G (p.Ala250=)
n.431T>G
c.451T>G (p.Phe151Val)
c.*91T>G (n.*91T>G)
c.636T>G (p.Ala212=)
n.471T>G
n.64T>G
c.543T>G (p.Ala181=)
c.771T>G (p.Ala257=)
c.678T>G (p.Ala226=)
Xg.19355381T=CA2418223597PDHA1c.657T= (p.Ala219=)
c.*328T= (n.*328T=)
c.720T= (p.Ala240=)
c.750T= (p.Ala250=)
n.431T=
c.451T= (p.Phe151=)
c.*91T= (n.*91T=)
c.636T= (p.Ala212=)
n.471T=
n.64T=
c.543T= (p.Ala181=)
c.771T= (p.Ala257=)
c.678T= (p.Ala226=)
Xg.19355382T>ACA412394378PDHA1c.658T>A (p.Leu220Met)
c.*329T>A (n.*329T>A)
c.721T>A (p.Leu241Met)
c.751T>A (p.Leu251Met)
n.432T>A
c.452T>A (p.Phe151Tyr)
c.*92T>A (n.*92T>A)
c.637T>A (p.Leu213Met)
n.472T>A
n.65T>A
c.544T>A (p.Leu182Met)
c.772T>A (p.Leu258Met)
c.679T>A (p.Leu227Met)
Xg.19355382T>CCA515486001PDHA1c.658T>C (p.Leu220=)
c.*329T>C (n.*329T>C)
c.721T>C (p.Leu241=)
c.751T>C (p.Leu251=)
n.432T>C
c.452T>C (p.Phe151Ser)
c.*92T>C (n.*92T>C)
c.637T>C (p.Leu213=)
n.472T>C
n.65T>C
c.544T>C (p.Leu182=)
c.772T>C (p.Leu258=)
c.679T>C (p.Leu227=)
Xg.19355382T>GCA412394380PDHA1c.658T>G (p.Leu220Val)
c.*329T>G (n.*329T>G)
c.721T>G (p.Leu241Val)
c.751T>G (p.Leu251Val)
n.432T>G
c.452T>G (p.Phe151Cys)
c.*92T>G (n.*92T>G)
c.637T>G (p.Leu213Val)
n.472T>G
n.65T>G
c.544T>G (p.Leu182Val)
c.772T>G (p.Leu258Val)
c.679T>G (p.Leu227Val)
Xg.19355383T>ACA412394383PDHA1c.659T>A (p.Leu220Ter)
c.*330T>A (n.*330T>A)
c.722T>A (p.Leu241Ter)
c.752T>A (p.Leu251Ter)
n.433T>A
c.453T>A (p.Phe151Leu)
c.*93T>A (n.*93T>A)
c.638T>A (p.Leu213Ter)
n.473T>A
n.66T>A
c.545T>A (p.Leu182Ter)
c.773T>A (p.Leu258Ter)
c.680T>A (p.Leu227Ter)
Xg.19355383T>CCA412394384PDHA1c.659T>C (p.Leu220Ser)
c.*330T>C (n.*330T>C)
c.722T>C (p.Leu241Ser)
c.752T>C (p.Leu251Ser)
n.433T>C
c.453T>C (p.Phe151=)
c.*93T>C (n.*93T>C)
c.638T>C (p.Leu213Ser)
n.473T>C
n.66T>C
c.545T>C (p.Leu182Ser)
c.773T>C (p.Leu258Ser)
c.680T>C (p.Leu227Ser)
Xg.19355383T>GCA412394385PDHA1c.659T>G (p.Leu220Trp)
c.*330T>G (n.*330T>G)
c.722T>G (p.Leu241Trp)
c.752T>G (p.Leu251Trp)
n.433T>G
c.453T>G (p.Phe151Leu)
c.*93T>G (n.*93T>G)
c.638T>G (p.Leu213Trp)
n.473T>G
n.66T>G
c.545T>G (p.Leu182Trp)
c.773T>G (p.Leu258Trp)
c.680T>G (p.Leu227Trp)
Xg.19355384G>ACA515486002PDHA1c.660G>A (p.Leu220=)
c.*331G>A (n.*331G>A)
c.723G>A (p.Leu241=)
c.753G>A (p.Leu251=)
n.434G>A
c.454G>A (p.Val152Met)
c.*94G>A (n.*94G>A)
c.639G>A (p.Leu213=)
n.474G>A
n.67G>A
c.546G>A (p.Leu182=)
c.774G>A (p.Leu258=)
c.681G>A (p.Leu227=)
 ClinVar dbSNP
Xg.19355384G>CCA412394387PDHA1c.660G>C (p.Leu220Phe)
c.*331G>C (n.*331G>C)
c.723G>C (p.Leu241Phe)
c.753G>C (p.Leu251Phe)
n.434G>C
c.454G>C (p.Val152Leu)
c.*94G>C (n.*94G>C)
c.639G>C (p.Leu213Phe)
n.474G>C
n.67G>C
c.546G>C (p.Leu182Phe)
c.774G>C (p.Leu258Phe)
c.681G>C (p.Leu227Phe)
Xg.19355384G>TCA412394389PDHA1c.660G>T (p.Leu220Phe)
c.*331G>T (n.*331G>T)
c.723G>T (p.Leu241Phe)
c.753G>T (p.Leu251Phe)
n.434G>T
c.454G>T (p.Val152Leu)
c.*94G>T (n.*94G>T)
c.639G>T (p.Leu213Phe)
n.474G>T
n.67G>T
c.546G>T (p.Leu182Phe)
c.774G>T (p.Leu258Phe)
c.681G>T (p.Leu227Phe)
Xg.19355385T>ACA412394394PDHA1c.661T>A (p.Trp221Arg)
c.*332T>A (n.*332T>A)
c.724T>A (p.Trp242Arg)
c.754T>A (p.Trp252Arg)
n.435T>A
c.455T>A (p.Val152Glu)
c.*95T>A (n.*95T>A)
c.640T>A (p.Trp214Arg)
n.475T>A
n.68T>A
c.547T>A (p.Trp183Arg)
c.775T>A (p.Trp259Arg)
c.682T>A (p.Trp228Arg)
Xg.19355385T>CCA10603797PDHA1c.661T>C (p.Trp221Arg)
c.*332T>C (n.*332T>C)
c.724T>C (p.Trp242Arg)
c.754T>C (p.Trp252Arg)
n.435T>C
c.455T>C (p.Val152Ala)
c.*95T>C (n.*95T>C)
c.640T>C (p.Trp214Arg)
n.475T>C
n.68T>C
c.547T>C (p.Trp183Arg)
c.775T>C (p.Trp259Arg)
c.682T>C (p.Trp228Arg)
 ClinVar dbSNP
Xg.19355385T>GCA412394391PDHA1c.661T>G (p.Trp221Gly)
c.*332T>G (n.*332T>G)
c.724T>G (p.Trp242Gly)
c.754T>G (p.Trp252Gly)
n.435T>G
c.455T>G (p.Val152Gly)
c.*95T>G (n.*95T>G)
c.640T>G (p.Trp214Gly)
n.475T>G
n.68T>G
c.547T>G (p.Trp183Gly)
c.775T>G (p.Trp259Gly)
c.682T>G (p.Trp228Gly)
 ClinVar
Xg.19355385T=CA2418223598PDHA1c.661T= (p.Trp221=)
c.*332T= (n.*332T=)
c.724T= (p.Trp242=)
c.754T= (p.Trp252=)
n.435T=
c.455T= (p.Val152=)
c.*95T= (n.*95T=)
c.640T= (p.Trp214=)
n.475T=
n.68T=
c.547T= (p.Trp183=)
c.775T= (p.Trp259=)
c.682T= (p.Trp228=)
Xg.19355386G>ACA412394397PDHA1c.662G>A (p.Trp221Ter)
c.*333G>A (n.*333G>A)
c.725G>A (p.Trp242Ter)
c.755G>A (p.Trp252Ter)
n.436G>A
c.456G>A (p.Val152=)
c.*96G>A (n.*96G>A)
c.641G>A (p.Trp214Ter)
n.476G>A
n.69G>A
c.548G>A (p.Trp183Ter)
c.776G>A (p.Trp259Ter)
c.683G>A (p.Trp228Ter)
 COSMIC COSMIC COSMIC
Xg.19355386G>CCA412394398PDHA1c.662G>C (p.Trp221Ser)
c.*333G>C (n.*333G>C)
c.725G>C (p.Trp242Ser)
c.755G>C (p.Trp252Ser)
n.436G>C
c.456G>C (p.Val152=)
c.*96G>C (n.*96G>C)
c.641G>C (p.Trp214Ser)
n.476G>C
n.69G>C
c.548G>C (p.Trp183Ser)
c.776G>C (p.Trp259Ser)
c.683G>C (p.Trp228Ser)
Xg.19355386G>TCA412394399PDHA1c.662G>T (p.Trp221Leu)
c.*333G>T (n.*333G>T)
c.725G>T (p.Trp242Leu)
c.755G>T (p.Trp252Leu)
n.436G>T
c.456G>T (p.Val152=)
c.*96G>T (n.*96G>T)
c.641G>T (p.Trp214Leu)
n.476G>T
n.69G>T
c.548G>T (p.Trp183Leu)
c.776G>T (p.Trp259Leu)
c.683G>T (p.Trp228Leu)
Xg.19355387G>ACA412394400PDHA1c.663G>A (p.Trp221Ter)
c.*334G>A (n.*334G>A)
c.726G>A (p.Trp242Ter)
c.756G>A (p.Trp252Ter)
n.437G>A
c.457G>A (p.Glu153Lys)
c.*97G>A (n.*97G>A)
c.642G>A (p.Trp214Ter)
n.477G>A
n.70G>A
c.549G>A (p.Trp183Ter)
c.777G>A (p.Trp259Ter)
c.684G>A (p.Trp228Ter)
 ClinVar dbSNP
Xg.19355387G>CCA412394402PDHA1c.663G>C (p.Trp221Cys)
c.*334G>C (n.*334G>C)
c.726G>C (p.Trp242Cys)
c.756G>C (p.Trp252Cys)
n.437G>C
c.457G>C (p.Glu153Gln)
c.*97G>C (n.*97G>C)
c.642G>C (p.Trp214Cys)
n.477G>C
n.70G>C
c.549G>C (p.Trp183Cys)
c.777G>C (p.Trp259Cys)
c.684G>C (p.Trp228Cys)
Xg.19355387G=CA2418223599PDHA1c.663G= (p.Trp221=)
c.*334G= (n.*334G=)
c.726G= (p.Trp242=)
c.756G= (p.Trp252=)
n.437G=
c.457G= (p.Glu153=)
c.*97G= (n.*97G=)
c.642G= (p.Trp214=)
n.477G=
n.70G=
c.549G= (p.Trp183=)
c.777G= (p.Trp259=)
c.684G= (p.Trp228=)
Xg.19355387G>TCA412394404PDHA1c.663G>T (p.Trp221Cys)
c.*334G>T (n.*334G>T)
c.726G>T (p.Trp242Cys)
c.756G>T (p.Trp252Cys)
n.437G>T
c.457G>T (p.Glu153Ter)
c.*97G>T (n.*97G>T)
c.642G>T (p.Trp214Cys)
n.477G>T
n.70G>T
c.549G>T (p.Trp183Cys)
c.777G>T (p.Trp259Cys)
c.684G>T (p.Trp228Cys)
 ClinVar dbSNP
Xg.19355388A>CCA412394407PDHA1c.664A>C (p.Lys222Gln)
c.*335A>C (n.*335A>C)
c.727A>C (p.Lys243Gln)
c.757A>C (p.Lys253Gln)
n.438A>C
c.458A>C (p.Glu153Ala)
c.*98A>C (n.*98A>C)
c.643A>C (p.Lys215Gln)
n.478A>C
n.71A>C
c.550A>C (p.Lys184Gln)
c.778A>C (p.Lys260Gln)
c.685A>C (p.Lys229Gln)
Xg.19355388A>GCA412394409PDHA1c.664A>G (p.Lys222Glu)
c.*335A>G (n.*335A>G)
c.727A>G (p.Lys243Glu)
c.757A>G (p.Lys253Glu)
n.438A>G
c.458A>G (p.Glu153Gly)
c.*98A>G (n.*98A>G)
c.643A>G (p.Lys215Glu)
n.478A>G
n.71A>G
c.550A>G (p.Lys184Glu)
c.778A>G (p.Lys260Glu)
c.685A>G (p.Lys229Glu)
 ClinVar gnomAD v4
Xg.19355388A>TCA412394411PDHA1c.664A>T (p.Lys222Ter)
c.*335A>T (n.*335A>T)
c.727A>T (p.Lys243Ter)
c.757A>T (p.Lys253Ter)
n.438A>T
c.458A>T (p.Glu153Val)
c.*98A>T (n.*98A>T)
c.643A>T (p.Lys215Ter)
n.478A>T
n.71A>T
c.550A>T (p.Lys184Ter)
c.778A>T (p.Lys260Ter)
c.685A>T (p.Lys229Ter)
Xg.19355389A>CCA412394413PDHA1c.665A>C (p.Lys222Thr)
c.*336A>C (n.*336A>C)
c.728A>C (p.Lys243Thr)
c.758A>C (p.Lys253Thr)
n.439A>C
c.459A>C (p.Glu153Asp)
c.*99A>C (n.*99A>C)
c.644A>C (p.Lys215Thr)
n.479A>C
n.72A>C
c.551A>C (p.Lys184Thr)
c.779A>C (p.Lys260Thr)
c.686A>C (p.Lys229Thr)
Xg.19355389A>GCA412394415PDHA1c.665A>G (p.Lys222Arg)
c.*336A>G (n.*336A>G)
c.728A>G (p.Lys243Arg)
c.758A>G (p.Lys253Arg)
n.439A>G
c.459A>G (p.Glu153=)
c.*99A>G (n.*99A>G)
c.644A>G (p.Lys215Arg)
n.479A>G
n.72A>G
c.551A>G (p.Lys184Arg)
c.779A>G (p.Lys260Arg)
c.686A>G (p.Lys229Arg)
Xg.19355389A>TCA412394417PDHA1c.665A>T (p.Lys222Ile)
c.*336A>T (n.*336A>T)
c.728A>T (p.Lys243Ile)
c.758A>T (p.Lys253Ile)
n.439A>T
c.459A>T (p.Glu153Asp)
c.*99A>T (n.*99A>T)
c.644A>T (p.Lys215Ile)
n.479A>T
n.72A>T
c.551A>T (p.Lys184Ile)
c.779A>T (p.Lys260Ile)
c.686A>T (p.Lys229Ile)
Xg.19355390A>CCA412394419PDHA1c.666A>C (p.Lys222Asn)
c.*337A>C (n.*337A>C)
c.729A>C (p.Lys243Asn)
c.759A>C (p.Lys253Asn)
n.440A>C
c.460A>C (p.Ile154Leu)
c.*100A>C (n.*100A>C)
c.645A>C (p.Lys215Asn)
n.480A>C
n.73A>C
c.552A>C (p.Lys184Asn)
c.780A>C (p.Lys260Asn)
c.687A>C (p.Lys229Asn)
Xg.19355390A>GCA515486003PDHA1c.666A>G (p.Lys222=)
c.*337A>G (n.*337A>G)
c.729A>G (p.Lys243=)
c.759A>G (p.Lys253=)
n.440A>G
c.460A>G (p.Ile154Val)
c.*100A>G (n.*100A>G)
c.645A>G (p.Lys215=)
n.480A>G
n.73A>G
c.552A>G (p.Lys184=)
c.780A>G (p.Lys260=)
c.687A>G (p.Lys229=)
 ClinVar gnomAD v4
Xg.19355390A>TCA412394420PDHA1c.666A>T (p.Lys222Asn)
c.*337A>T (n.*337A>T)
c.729A>T (p.Lys243Asn)
c.759A>T (p.Lys253Asn)
n.440A>T
c.460A>T (p.Ile154Phe)
c.*100A>T (n.*100A>T)
c.645A>T (p.Lys215Asn)
n.480A>T
n.73A>T
c.552A>T (p.Lys184Asn)
c.780A>T (p.Lys260Asn)
c.687A>T (p.Lys229Asn)
Xg.19355391T>ACA412394424PDHA1c.667T>A (p.Leu223Ile)
c.*338T>A (n.*338T>A)
c.730T>A (p.Leu244Ile)
c.760T>A (p.Leu254Ile)
n.441T>A
c.461T>A (p.Ile154Asn)
c.*101T>A (n.*101T>A)
c.646T>A (p.Leu216Ile)
n.481T>A
n.74T>A
c.553T>A (p.Leu185Ile)
c.781T>A (p.Leu261Ile)
c.688T>A (p.Leu230Ile)
Xg.19355391T>CCA515486004PDHA1c.667T>C (p.Leu223=)
c.*338T>C (n.*338T>C)
c.730T>C (p.Leu244=)
c.760T>C (p.Leu254=)
n.441T>C
c.461T>C (p.Ile154Thr)
c.*101T>C (n.*101T>C)
c.646T>C (p.Leu216=)
n.481T>C
n.74T>C
c.553T>C (p.Leu185=)
c.781T>C (p.Leu261=)
c.688T>C (p.Leu230=)
Xg.19355391T>GCA412394423PDHA1c.667T>G (p.Leu223Val)
c.*338T>G (n.*338T>G)
c.730T>G (p.Leu244Val)
c.760T>G (p.Leu254Val)
n.441T>G
c.461T>G (p.Ile154Ser)
c.*101T>G (n.*101T>G)
c.646T>G (p.Leu216Val)
n.481T>G
n.74T>G
c.553T>G (p.Leu185Val)
c.781T>G (p.Leu261Val)
c.688T>G (p.Leu230Val)
Xg.19355392T>ACA412394426PDHA1c.668T>A (p.Leu223Ter)
c.*339T>A (n.*339T>A)
c.731T>A (p.Leu244Ter)
c.761T>A (p.Leu254Ter)
n.442T>A
c.462T>A (p.Ile154=)
c.*102T>A (n.*102T>A)
c.647T>A (p.Leu216Ter)
n.482T>A
n.75T>A
c.554T>A (p.Leu185Ter)
c.782T>A (p.Leu261Ter)
c.689T>A (p.Leu230Ter)
Xg.19355392T>CCA412394428PDHA1c.668T>C (p.Leu223Ser)
c.*339T>C (n.*339T>C)
c.731T>C (p.Leu244Ser)
c.761T>C (p.Leu254Ser)
n.442T>C
c.462T>C (p.Ile154=)
c.*102T>C (n.*102T>C)
c.647T>C (p.Leu216Ser)
n.482T>C
n.75T>C
c.554T>C (p.Leu185Ser)
c.782T>C (p.Leu261Ser)
c.689T>C (p.Leu230Ser)
Xg.19355392T>GCA412394429PDHA1c.668T>G (p.Leu223Ter)
c.*339T>G (n.*339T>G)
c.731T>G (p.Leu244Ter)
c.761T>G (p.Leu254Ter)
n.442T>G
c.462T>G (p.Ile154Met)
c.*102T>G (n.*102T>G)
c.647T>G (p.Leu216Ter)
n.482T>G
n.75T>G
c.554T>G (p.Leu185Ter)
c.782T>G (p.Leu261Ter)
c.689T>G (p.Leu230Ter)
Xg.19355393A=CA2418223600PDHA1c.669A= (p.Leu223=)
c.*340A= (n.*340A=)
c.732A= (p.Leu244=)
c.762A= (p.Leu254=)
n.443A=
c.463A= (p.Thr155=)
c.*103A= (n.*103A=)
c.648A= (p.Leu216=)
n.483A=
n.76A=
c.555A= (p.Leu185=)
c.783A= (p.Leu261=)
c.690A= (p.Leu230=)
Xg.19355393A>CCA121228PDHA1c.669A>C (p.Leu223Phe)
c.*340A>C (n.*340A>C)
c.732A>C (p.Leu244Phe)
c.762A>C (p.Leu254Phe)
n.443A>C
c.463A>C (p.Thr155Pro)
c.*103A>C (n.*103A>C)
c.648A>C (p.Leu216Phe)
n.483A>C
n.76A>C
c.555A>C (p.Leu185Phe)
c.783A>C (p.Leu261Phe)
c.690A>C (p.Leu230Phe)
 ClinVar dbSNP
Xg.19355393A>GCA515486005PDHA1c.669A>G (p.Leu223=)
c.*340A>G (n.*340A>G)
c.732A>G (p.Leu244=)
c.762A>G (p.Leu254=)
n.443A>G
c.463A>G (p.Thr155Ala)
c.*103A>G (n.*103A>G)
c.648A>G (p.Leu216=)
n.483A>G
n.76A>G
c.555A>G (p.Leu185=)
c.783A>G (p.Leu261=)
c.690A>G (p.Leu230=)
Xg.19355393A>TCA412394433PDHA1c.669A>T (p.Leu223Phe)
c.*340A>T (n.*340A>T)
c.732A>T (p.Leu244Phe)
c.762A>T (p.Leu254Phe)
n.443A>T
c.463A>T (p.Thr155Ser)
c.*103A>T (n.*103A>T)
c.648A>T (p.Leu216Phe)
n.483A>T
n.76A>T
c.555A>T (p.Leu185Phe)
c.783A>T (p.Leu261Phe)
c.690A>T (p.Leu230Phe)
Xg.19355394C>ACA412394438PDHA1c.670C>A (p.Pro224Thr)
c.*341C>A (n.*341C>A)
c.733C>A (p.Pro245Thr)
c.763C>A (p.Pro255Thr)
n.444C>A
c.464C>A (p.Thr155Asn)
c.*104C>A (n.*104C>A)
c.649C>A (p.Pro217Thr)
n.484C>A
n.77C>A
c.556C>A (p.Pro186Thr)
c.784C>A (p.Pro262Thr)
c.691C>A (p.Pro231Thr)
Xg.19355394C>GCA412394436PDHA1c.670C>G (p.Pro224Ala)
c.*341C>G (n.*341C>G)
c.733C>G (p.Pro245Ala)
c.763C>G (p.Pro255Ala)
n.444C>G
c.464C>G (p.Thr155Ser)
c.*104C>G (n.*104C>G)
c.649C>G (p.Pro217Ala)
n.484C>G
n.77C>G
c.556C>G (p.Pro186Ala)
c.784C>G (p.Pro262Ala)
c.691C>G (p.Pro231Ala)
Xg.19355394C>TCA412394435PDHA1c.670C>T (p.Pro224Ser)
c.*341C>T (n.*341C>T)
c.733C>T (p.Pro245Ser)
c.763C>T (p.Pro255Ser)
n.444C>T
c.464C>T (p.Thr155Ile)
c.*104C>T (n.*104C>T)
c.649C>T (p.Pro217Ser)
n.484C>T
n.77C>T
c.556C>T (p.Pro186Ser)
c.784C>T (p.Pro262Ser)
c.691C>T (p.Pro231Ser)
Xg.19355395C>ACA412394440PDHA1c.671C>A (p.Pro224His)
c.*342C>A (n.*342C>A)
c.734C>A (p.Pro245His)
c.764C>A (p.Pro255His)
n.445C>A
c.465C>A (p.Thr155=)
c.*105C>A (n.*105C>A)
c.650C>A (p.Pro217His)
n.485C>A
n.78C>A
c.557C>A (p.Pro186His)
c.785C>A (p.Pro262His)
c.692C>A (p.Pro231His)
Xg.19355395C=CA2418223601PDHA1c.671C= (p.Pro224=)
c.*342C= (n.*342C=)
c.734C= (p.Pro245=)
c.764C= (p.Pro255=)
n.445C=
c.465C= (p.Thr155=)
c.*105C= (n.*105C=)
c.650C= (p.Pro217=)
n.485C=
n.78C=
c.557C= (p.Pro186=)
c.785C= (p.Pro262=)
c.692C= (p.Pro231=)
Xg.19355395C>GCA412394441PDHA1c.671C>G (p.Pro224Arg)
c.*342C>G (n.*342C>G)
c.734C>G (p.Pro245Arg)
c.764C>G (p.Pro255Arg)
n.445C>G
c.465C>G (p.Thr155=)
c.*105C>G (n.*105C>G)
c.650C>G (p.Pro217Arg)
n.485C>G
n.78C>G
c.557C>G (p.Pro186Arg)
c.785C>G (p.Pro262Arg)
c.692C>G (p.Pro231Arg)
Xg.19355395C>TCA412394443PDHA1c.671C>T (p.Pro224Leu)
c.*342C>T (n.*342C>T)
c.734C>T (p.Pro245Leu)
c.764C>T (p.Pro255Leu)
n.445C>T
c.465C>T (p.Thr155=)
c.*105C>T (n.*105C>T)
c.650C>T (p.Pro217Leu)
n.485C>T
n.78C>T
c.557C>T (p.Pro186Leu)
c.785C>T (p.Pro262Leu)
c.692C>T (p.Pro231Leu)
 ClinVar dbSNP
Xg.19355396T>ACA515486006PDHA1c.672T>A (p.Pro224=)
c.*343T>A (n.*343T>A)
c.735T>A (p.Pro245=)
c.765T>A (p.Pro255=)
n.446T>A
c.466T>A (p.Leu156Met)
c.*106T>A (n.*106T>A)
c.651T>A (p.Pro217=)
n.486T>A
n.79T>A
c.558T>A (p.Pro186=)
c.786T>A (p.Pro262=)
c.693T>A (p.Pro231=)
Xg.19355396T>CCA515486007PDHA1c.672T>C (p.Pro224=)
c.*343T>C (n.*343T>C)
c.735T>C (p.Pro245=)
c.765T>C (p.Pro255=)
n.446T>C
c.466T>C (p.Leu156=)
c.*106T>C (n.*106T>C)
c.651T>C (p.Pro217=)
n.486T>C
n.79T>C
c.558T>C (p.Pro186=)
c.786T>C (p.Pro262=)
c.693T>C (p.Pro231=)
Xg.19355396T>GCA515486008PDHA1c.672T>G (p.Pro224=)
c.*343T>G (n.*343T>G)
c.735T>G (p.Pro245=)
c.765T>G (p.Pro255=)
n.446T>G
c.466T>G (p.Leu156Val)
c.*106T>G (n.*106T>G)
c.651T>G (p.Pro217=)
n.486T>G
n.79T>G
c.558T>G (p.Pro186=)
c.786T>G (p.Pro262=)
c.693T>G (p.Pro231=)
 gnomAD v4
Xg.19355397delCA2533482558PDHA1c.673del (p.Cys225ValfsTer?)
c.*344del (n.*344del)
c.736del (p.Cys246ValfsTer?)
c.766del (p.Cys256ValfsTer?)
n.447del
c.467del (p.Leu156CysfsTer?)
c.*107del (n.*107del)
c.652del (p.Cys218ValfsTer?)
n.487del
n.80del
c.559del (p.Cys187ValfsTer?)
c.787del (p.Cys263ValfsTer?)
c.694del (p.Cys232ValfsTer?)
Xg.19355397T>ACA412394445PDHA1c.673T>A (p.Cys225Ser)
c.*344T>A (n.*344T>A)
c.736T>A (p.Cys246Ser)
c.766T>A (p.Cys256Ser)
n.447T>A
c.467T>A (p.Leu156Ter)
c.*107T>A (n.*107T>A)
c.652T>A (p.Cys218Ser)
n.487T>A
n.80T>A
c.559T>A (p.Cys187Ser)
c.787T>A (p.Cys263Ser)
c.694T>A (p.Cys232Ser)
Xg.19355397T>CCA412394447PDHA1c.673T>C (p.Cys225Arg)
c.*344T>C (n.*344T>C)
c.736T>C (p.Cys246Arg)
c.766T>C (p.Cys256Arg)
n.447T>C
c.467T>C (p.Leu156Ser)
c.*107T>C (n.*107T>C)
c.652T>C (p.Cys218Arg)
n.487T>C
n.80T>C
c.559T>C (p.Cys187Arg)
c.787T>C (p.Cys263Arg)
c.694T>C (p.Cys232Arg)
Xg.19355397T>GCA412394448PDHA1c.673T>G (p.Cys225Gly)
c.*344T>G (n.*344T>G)
c.736T>G (p.Cys246Gly)
c.766T>G (p.Cys256Gly)
n.447T>G
c.467T>G (p.Leu156Trp)
c.*107T>G (n.*107T>G)
c.652T>G (p.Cys218Gly)
n.487T>G
n.80T>G
c.559T>G (p.Cys187Gly)
c.787T>G (p.Cys263Gly)
c.694T>G (p.Cys232Gly)
Xg.19355398G>ACA412394454PDHA1c.674G>A (p.Cys225Tyr)
c.*345G>A (n.*345G>A)
c.737G>A (p.Cys246Tyr)
c.767G>A (p.Cys256Tyr)
n.448G>A
c.468G>A (p.Leu156=)
c.*108G>A (n.*108G>A)
c.653G>A (p.Cys218Tyr)
n.488G>A
n.81G>A
c.560G>A (p.Cys187Tyr)
c.788G>A (p.Cys263Tyr)
c.695G>A (p.Cys232Tyr)
 ClinVar
Xg.19355398G>CCA412394450PDHA1c.674G>C (p.Cys225Ser)
c.*345G>C (n.*345G>C)
c.737G>C (p.Cys246Ser)
c.767G>C (p.Cys256Ser)
n.448G>C
c.468G>C (p.Leu156Phe)
c.*108G>C (n.*108G>C)
c.653G>C (p.Cys218Ser)
n.488G>C
n.81G>C
c.560G>C (p.Cys187Ser)
c.788G>C (p.Cys263Ser)
c.695G>C (p.Cys232Ser)
Xg.19355398G>TCA412394452PDHA1c.674G>T (p.Cys225Phe)
c.*345G>T (n.*345G>T)
c.737G>T (p.Cys246Phe)
c.767G>T (p.Cys256Phe)
n.448G>T
c.468G>T (p.Leu156Phe)
c.*108G>T (n.*108G>T)
c.653G>T (p.Cys218Phe)
n.488G>T
n.81G>T
c.560G>T (p.Cys187Phe)
c.788G>T (p.Cys263Phe)
c.695G>T (p.Cys232Phe)
Xg.19355399T>ACA412394456PDHA1c.675T>A (p.Cys225Ter)
c.*346T>A (n.*346T>A)
c.738T>A (p.Cys246Ter)
c.768T>A (p.Cys256Ter)
n.449T>A
c.469T>A (p.Tyr157Asn)
c.*109T>A (n.*109T>A)
c.654T>A (p.Cys218Ter)
n.489T>A
n.82T>A
c.561T>A (p.Cys187Ter)
c.789T>A (p.Cys263Ter)
c.696T>A (p.Cys232Ter)
Xg.19355399T>CCA515486009PDHA1c.675T>C (p.Cys225=)
c.*346T>C (n.*346T>C)
c.738T>C (p.Cys246=)
c.768T>C (p.Cys256=)
n.449T>C
c.469T>C (p.Tyr157His)
c.*109T>C (n.*109T>C)
c.654T>C (p.Cys218=)
n.489T>C
n.82T>C
c.561T>C (p.Cys187=)
c.789T>C (p.Cys263=)
c.696T>C (p.Cys232=)
Xg.19355399T>GCA412394458PDHA1c.675T>G (p.Cys225Trp)
c.*346T>G (n.*346T>G)
c.738T>G (p.Cys246Trp)
c.768T>G (p.Cys256Trp)
n.449T>G
c.469T>G (p.Tyr157Asp)
c.*109T>G (n.*109T>G)
c.654T>G (p.Cys218Trp)
n.489T>G
n.82T>G
c.561T>G (p.Cys187Trp)
c.789T>G (p.Cys263Trp)
c.696T>G (p.Cys232Trp)
Xg.19355400A>CCA412394460PDHA1c.676A>C (p.Ile226Leu)
c.*347A>C (n.*347A>C)
c.739A>C (p.Ile247Leu)
c.769A>C (p.Ile257Leu)
n.450A>C
c.470A>C (p.Tyr157Ser)
c.*110A>C (n.*110A>C)
c.655A>C (p.Ile219Leu)
n.490A>C
n.83A>C
c.562A>C (p.Ile188Leu)
c.790A>C (p.Ile264Leu)
c.697A>C (p.Ile233Leu)
Xg.19355400A>GCA412394461PDHA1c.676A>G (p.Ile226Val)
c.*347A>G (n.*347A>G)
c.739A>G (p.Ile247Val)
c.769A>G (p.Ile257Val)
n.450A>G
c.470A>G (p.Tyr157Cys)
c.*110A>G (n.*110A>G)
c.655A>G (p.Ile219Val)
n.490A>G
n.83A>G
c.562A>G (p.Ile188Val)
c.790A>G (p.Ile264Val)
c.697A>G (p.Ile233Val)
 dbSNP
Xg.19355400A>TCA412394462PDHA1c.676A>T (p.Ile226Phe)
c.*347A>T (n.*347A>T)
c.739A>T (p.Ile247Phe)
c.769A>T (p.Ile257Phe)
n.450A>T
c.470A>T (p.Tyr157Phe)
c.*110A>T (n.*110A>T)
c.655A>T (p.Ile219Phe)
n.490A>T
n.83A>T
c.562A>T (p.Ile188Phe)
c.790A>T (p.Ile264Phe)
c.697A>T (p.Ile233Phe)
Xg.19355401T>ACA412394463PDHA1c.677T>A (p.Ile226Asn)
c.*348T>A (n.*348T>A)
c.740T>A (p.Ile247Asn)
c.770T>A (p.Ile257Asn)
n.451T>A
c.471T>A (p.Tyr157Ter)
c.*111T>A (n.*111T>A)
c.656T>A (p.Ile219Asn)
n.491T>A
n.84T>A
c.563T>A (p.Ile188Asn)
c.791T>A (p.Ile264Asn)
c.698T>A (p.Ile233Asn)
Xg.19355401T>CCA412394464PDHA1c.677T>C (p.Ile226Thr)
c.*348T>C (n.*348T>C)
c.740T>C (p.Ile247Thr)
c.770T>C (p.Ile257Thr)
n.451T>C
c.471T>C (p.Tyr157=)
c.*111T>C (n.*111T>C)
c.656T>C (p.Ile219Thr)
n.491T>C
n.84T>C
c.563T>C (p.Ile188Thr)
c.791T>C (p.Ile264Thr)
c.698T>C (p.Ile233Thr)
Xg.19355401T>GCA412394465PDHA1c.677T>G (p.Ile226Ser)
c.*348T>G (n.*348T>G)
c.740T>G (p.Ile247Ser)
c.770T>G (p.Ile257Ser)
n.451T>G
c.471T>G (p.Tyr157Ter)
c.*111T>G (n.*111T>G)
c.656T>G (p.Ile219Ser)
n.491T>G
n.84T>G
c.563T>G (p.Ile188Ser)
c.791T>G (p.Ile264Ser)
c.698T>G (p.Ile233Ser)
Xg.19355402T>ACA515486010PDHA1c.678T>A (p.Ile226=)
c.*349T>A (n.*349T>A)
c.741T>A (p.Ile247=)
c.771T>A (p.Ile257=)
n.452T>A
c.472T>A (p.Phe158Ile)
c.*112T>A (n.*112T>A)
c.657T>A (p.Ile219=)
n.492T>A
n.85T>A
c.564T>A (p.Ile188=)
c.792T>A (p.Ile264=)
c.699T>A (p.Ile233=)
Xg.19355402T>CCA10363076PDHA1c.678T>C (p.Ile226=)
c.*349T>C (n.*349T>C)
c.741T>C (p.Ile247=)
c.771T>C (p.Ile257=)
n.452T>C
c.472T>C (p.Phe158Leu)
c.*112T>C (n.*112T>C)
c.657T>C (p.Ile219=)
n.492T>C
n.85T>C
c.564T>C (p.Ile188=)
c.792T>C (p.Ile264=)
c.699T>C (p.Ile233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19355402T>GCA412394466PDHA1c.678T>G (p.Ile226Met)
c.*349T>G (n.*349T>G)
c.741T>G (p.Ile247Met)
c.771T>G (p.Ile257Met)
n.452T>G
c.472T>G (p.Phe158Val)
c.*112T>G (n.*112T>G)
c.657T>G (p.Ile219Met)
n.492T>G
n.85T>G
c.564T>G (p.Ile188Met)
c.792T>G (p.Ile264Met)
c.699T>G (p.Ile233Met)
Xg.19355402T=CA2418223602PDHA1c.678T= (p.Ile226=)
c.*349T= (n.*349T=)
c.741T= (p.Ile247=)
c.771T= (p.Ile257=)
n.452T=
c.472T= (p.Phe158=)
c.*112T= (n.*112T=)
c.657T= (p.Ile219=)
n.492T=
n.85T=
c.564T= (p.Ile188=)
c.792T= (p.Ile264=)
c.699T= (p.Ile233=)
Xg.19355403T>ACA412394467PDHA1c.679T>A (p.Phe227Ile)
c.*350T>A (n.*350T>A)
c.742T>A (p.Phe248Ile)
c.772T>A (p.Phe258Ile)
n.453T>A
c.473T>A (p.Phe158Tyr)
c.*113T>A (n.*113T>A)
c.658T>A (p.Phe220Ile)
n.493T>A
n.86T>A
c.565T>A (p.Phe189Ile)
c.793T>A (p.Phe265Ile)
c.700T>A (p.Phe234Ile)
Xg.19355403T>CCA412394468PDHA1c.679T>C (p.Phe227Leu)
c.*350T>C (n.*350T>C)
c.742T>C (p.Phe248Leu)
c.772T>C (p.Phe258Leu)
n.453T>C
c.473T>C (p.Phe158Ser)
c.*113T>C (n.*113T>C)
c.658T>C (p.Phe220Leu)
n.493T>C
n.86T>C
c.565T>C (p.Phe189Leu)
c.793T>C (p.Phe265Leu)
c.700T>C (p.Phe234Leu)
Xg.19355403T>GCA412394469PDHA1c.679T>G (p.Phe227Val)
c.*350T>G (n.*350T>G)
c.742T>G (p.Phe248Val)
c.772T>G (p.Phe258Val)
n.453T>G
c.473T>G (p.Phe158Cys)
c.*113T>G (n.*113T>G)
c.658T>G (p.Phe220Val)
n.493T>G
n.86T>G
c.565T>G (p.Phe189Val)
c.793T>G (p.Phe265Val)
c.700T>G (p.Phe234Val)
Xg.19355404T>ACA412394472PDHA1c.680T>A (p.Phe227Tyr)
c.*351T>A (n.*351T>A)
c.743T>A (p.Phe248Tyr)
c.773T>A (p.Phe258Tyr)
n.454T>A
c.474T>A (p.Phe158Leu)
c.*114T>A (n.*114T>A)
c.659T>A (p.Phe220Tyr)
n.494T>A
n.87T>A
c.566T>A (p.Phe189Tyr)
c.794T>A (p.Phe265Tyr)
c.701T>A (p.Phe234Tyr)
Xg.19355404T>CCA412394471PDHA1c.680T>C (p.Phe227Ser)
c.*351T>C (n.*351T>C)
c.743T>C (p.Phe248Ser)
c.773T>C (p.Phe258Ser)
n.454T>C
c.474T>C (p.Phe158=)
c.*114T>C (n.*114T>C)
c.659T>C (p.Phe220Ser)
n.494T>C
n.87T>C
c.566T>C (p.Phe189Ser)
c.794T>C (p.Phe265Ser)
c.701T>C (p.Phe234Ser)
Xg.19355404T>GCA412394470PDHA1c.680T>G (p.Phe227Cys)
c.*351T>G (n.*351T>G)
c.743T>G (p.Phe248Cys)
c.773T>G (p.Phe258Cys)
n.454T>G
c.474T>G (p.Phe158Leu)
c.*114T>G (n.*114T>G)
c.659T>G (p.Phe220Cys)
n.494T>G
n.87T>G
c.566T>G (p.Phe189Cys)
c.794T>G (p.Phe265Cys)
c.701T>G (p.Phe234Cys)
Xg.19355405C>ACA412394473PDHA1c.681C>A (p.Phe227Leu)
c.*352C>A (n.*352C>A)
c.744C>A (p.Phe248Leu)
c.774C>A (p.Phe258Leu)
n.455C>A
c.475C>A (p.His159Asn)
c.*115C>A (n.*115C>A)
c.660C>A (p.Phe220Leu)
n.495C>A
n.88C>A
c.567C>A (p.Phe189Leu)
c.795C>A (p.Phe265Leu)
c.702C>A (p.Phe234Leu)
Xg.19355405C=CA2418223603PDHA1c.681C= (p.Phe227=)
c.*352C= (n.*352C=)
c.744C= (p.Phe248=)
c.774C= (p.Phe258=)
n.455C=
c.475C= (p.His159=)
c.*115C= (n.*115C=)
c.660C= (p.Phe220=)
n.495C=
n.88C=
c.567C= (p.Phe189=)
c.795C= (p.Phe265=)
c.702C= (p.Phe234=)
Xg.19355405C>GCA412394474PDHA1c.681C>G (p.Phe227Leu)
c.*352C>G (n.*352C>G)
c.744C>G (p.Phe248Leu)
c.774C>G (p.Phe258Leu)
n.455C>G
c.475C>G (p.His159Asp)
c.*115C>G (n.*115C>G)
c.660C>G (p.Phe220Leu)
n.495C>G
n.88C>G
c.567C>G (p.Phe189Leu)
c.795C>G (p.Phe265Leu)
c.702C>G (p.Phe234Leu)
Xg.19355405C>TCA10363077PDHA1c.681C>T (p.Phe227=)
c.*352C>T (n.*352C>T)
c.744C>T (p.Phe248=)
c.774C>T (p.Phe258=)
n.455C>T
c.475C>T (p.His159Tyr)
c.*115C>T (n.*115C>T)
c.660C>T (p.Phe220=)
n.495C>T
n.88C>T
c.567C>T (p.Phe189=)
c.795C>T (p.Phe265=)
c.702C>T (p.Phe234=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19355406A=CA2418223604PDHA1c.682A= (p.Ile228=)
c.*353A= (n.*353A=)
c.745A= (p.Ile249=)
c.775A= (p.Ile259=)
n.456A=
c.476A= (p.His159=)
c.*116A= (n.*116A=)
c.661A= (p.Ile221=)
n.496A=
n.89A=
c.568A= (p.Ile190=)
c.796A= (p.Ile266=)
c.703A= (p.Ile235=)
Xg.19355406A>CCA412394475PDHA1c.682A>C (p.Ile228Leu)
c.*353A>C (n.*353A>C)
c.745A>C (p.Ile249Leu)
c.775A>C (p.Ile259Leu)
n.456A>C
c.476A>C (p.His159Pro)
c.*116A>C (n.*116A>C)
c.661A>C (p.Ile221Leu)
n.496A>C
n.89A>C
c.568A>C (p.Ile190Leu)
c.796A>C (p.Ile266Leu)
c.703A>C (p.Ile235Leu)
Xg.19355406A>GCA412394476PDHA1c.682A>G (p.Ile228Val)
c.*353A>G (n.*353A>G)
c.745A>G (p.Ile249Val)
c.775A>G (p.Ile259Val)
n.456A>G
c.476A>G (p.His159Arg)
c.*116A>G (n.*116A>G)
c.661A>G (p.Ile221Val)
n.496A>G
n.89A>G
c.568A>G (p.Ile190Val)
c.796A>G (p.Ile266Val)
c.703A>G (p.Ile235Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.19355406A>TCA412394477PDHA1c.682A>T (p.Ile228Phe)
c.*353A>T (n.*353A>T)
c.745A>T (p.Ile249Phe)
c.775A>T (p.Ile259Phe)
n.456A>T
c.476A>T (p.His159Leu)
c.*116A>T (n.*116A>T)
c.661A>T (p.Ile221Phe)
n.496A>T
n.89A>T
c.568A>T (p.Ile190Phe)
c.796A>T (p.Ile266Phe)
c.703A>T (p.Ile235Phe)
Xg.19355407T>ACA412394478PDHA1c.683T>A (p.Ile228Asn)
c.*354T>A (n.*354T>A)
c.746T>A (p.Ile249Asn)
c.776T>A (p.Ile259Asn)
n.457T>A
c.477T>A (p.His159Gln)
c.*117T>A (n.*117T>A)
c.662T>A (p.Ile221Asn)
n.497T>A
n.90T>A
c.569T>A (p.Ile190Asn)
c.797T>A (p.Ile266Asn)
c.704T>A (p.Ile235Asn)
Xg.19355407T>CCA412394479PDHA1c.683T>C (p.Ile228Thr)
c.*354T>C (n.*354T>C)
c.746T>C (p.Ile249Thr)
c.776T>C (p.Ile259Thr)
n.457T>C
c.477T>C (p.His159=)
c.*117T>C (n.*117T>C)
c.662T>C (p.Ile221Thr)
n.497T>C
n.90T>C
c.569T>C (p.Ile190Thr)
c.797T>C (p.Ile266Thr)
c.704T>C (p.Ile235Thr)
Xg.19355407T>GCA412394480PDHA1c.683T>G (p.Ile228Ser)
c.*354T>G (n.*354T>G)
c.746T>G (p.Ile249Ser)
c.776T>G (p.Ile259Ser)
n.457T>G
c.477T>G (p.His159Gln)
c.*117T>G (n.*117T>G)
c.662T>G (p.Ile221Ser)
n.497T>G
n.90T>G
c.569T>G (p.Ile190Ser)
c.797T>G (p.Ile266Ser)
c.704T>G (p.Ile235Ser)
Xg.19355408C>ACA515486011PDHA1c.684C>A (p.Ile228=)
c.*355C>A (n.*355C>A)
c.747C>A (p.Ile249=)
c.777C>A (p.Ile259=)
n.458C>A
c.478C>A (p.Leu160Met)
c.*118C>A (n.*118C>A)
c.663C>A (p.Ile221=)
n.498C>A
n.91C>A
c.570C>A (p.Ile190=)
c.798C>A (p.Ile266=)
c.705C>A (p.Ile235=)
Xg.19355408C=CA2418223605PDHA1c.684C= (p.Ile228=)
c.*355C= (n.*355C=)
c.747C= (p.Ile249=)
c.777C= (p.Ile259=)
n.458C=
c.478C= (p.Leu160=)
c.*118C= (n.*118C=)
c.663C= (p.Ile221=)
n.498C=
n.91C=
c.570C= (p.Ile190=)
c.798C= (p.Ile266=)
c.705C= (p.Ile235=)
Xg.19355408C>GCA412394481PDHA1c.684C>G (p.Ile228Met)
c.*355C>G (n.*355C>G)
c.747C>G (p.Ile249Met)
c.777C>G (p.Ile259Met)
n.458C>G
c.478C>G (p.Leu160Val)
c.*118C>G (n.*118C>G)
c.663C>G (p.Ile221Met)
n.498C>G
n.91C>G
c.570C>G (p.Ile190Met)
c.798C>G (p.Ile266Met)
c.705C>G (p.Ile235Met)
Xg.19355408C>TCA327027173PDHA1c.684C>T (p.Ile228=)
c.*355C>T (n.*355C>T)
c.747C>T (p.Ile249=)
c.777C>T (p.Ile259=)
n.458C>T
c.478C>T (p.Leu160=)
c.*118C>T (n.*118C>T)
c.663C>T (p.Ile221=)
n.498C>T
n.91C>T
c.570C>T (p.Ile190=)
c.798C>T (p.Ile266=)
c.705C>T (p.Ile235=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.19355409T>ACA412394482PDHA1c.685T>A (p.Cys229Ser)
c.*356T>A (n.*356T>A)
c.748T>A (p.Cys250Ser)
c.778T>A (p.Cys260Ser)
n.459T>A
c.479T>A (p.Leu160Gln)
c.*119T>A (n.*119T>A)
c.664T>A (p.Cys222Ser)
n.499T>A
n.92T>A
c.571T>A (p.Cys191Ser)
c.799T>A (p.Cys267Ser)
c.706T>A (p.Cys236Ser)
Xg.19355409T>CCA412394483PDHA1c.685T>C (p.Cys229Arg)
c.*356T>C (n.*356T>C)
c.748T>C (p.Cys250Arg)
c.778T>C (p.Cys260Arg)
n.459T>C
c.479T>C (p.Leu160Pro)
c.*119T>C (n.*119T>C)
c.664T>C (p.Cys222Arg)
n.499T>C
n.92T>C
c.571T>C (p.Cys191Arg)
c.799T>C (p.Cys267Arg)
c.706T>C (p.Cys236Arg)
Xg.19355409T>GCA412394484PDHA1c.685T>G (p.Cys229Gly)
c.*356T>G (n.*356T>G)
c.748T>G (p.Cys250Gly)
c.778T>G (p.Cys260Gly)
n.459T>G
c.479T>G (p.Leu160Arg)
c.*119T>G (n.*119T>G)
c.664T>G (p.Cys222Gly)
n.499T>G
n.92T>G
c.571T>G (p.Cys191Gly)
c.799T>G (p.Cys267Gly)
c.706T>G (p.Cys236Gly)
Xg.19355411_19355412delCA2695231644PDHA1c.687_688del (p.Cys229Ter)
c.*358_*359del (n.*358_*359del)
c.750_751del (p.Cys250Ter)
c.780_781del (p.Cys260Ter)
n.461_462del
c.481_482del (p.Ter161ArgextTer30)
c.*121_*122del (n.*121_*122del)
c.666_667del (p.Cys222Ter)
n.501_502del
n.94_95del
c.573_574del (p.Cys191Ter)
c.801_802del (p.Cys267Ter)
c.708_709del (p.Cys236Ter)
Xg.19355410G>ACA412394486PDHA1c.686G>A (p.Cys229Tyr)
c.*357G>A (n.*357G>A)
c.749G>A (p.Cys250Tyr)
c.779G>A (p.Cys260Tyr)
n.460G>A
c.480G>A (p.Leu160=)
c.*120G>A (n.*120G>A)
c.665G>A (p.Cys222Tyr)
n.500G>A
n.93G>A
c.572G>A (p.Cys191Tyr)
c.800G>A (p.Cys267Tyr)
c.707G>A (p.Cys236Tyr)
Xg.19355410G>CCA412394487PDHA1c.686G>C (p.Cys229Ser)
c.*357G>C (n.*357G>C)
c.749G>C (p.Cys250Ser)
c.779G>C (p.Cys260Ser)
n.460G>C
c.480G>C (p.Leu160=)
c.*120G>C (n.*120G>C)
c.665G>C (p.Cys222Ser)
n.500G>C
n.93G>C
c.572G>C (p.Cys191Ser)
c.800G>C (p.Cys267Ser)
c.707G>C (p.Cys236Ser)
Xg.19355410G>TCA412394485PDHA1c.686G>T (p.Cys229Phe)
c.*357G>T (n.*357G>T)
c.749G>T (p.Cys250Phe)
c.779G>T (p.Cys260Phe)
n.460G>T
c.480G>T (p.Leu160=)
c.*120G>T (n.*120G>T)
c.665G>T (p.Cys222Phe)
n.500G>T
n.93G>T
c.572G>T (p.Cys191Phe)
c.800G>T (p.Cys267Phe)
c.707G>T (p.Cys236Phe)
Xg.19355411T>ACA412394488PDHA1c.687T>A (p.Cys229Ter)
c.*358T>A (n.*358T>A)
c.750T>A (p.Cys250Ter)
c.780T>A (p.Cys260Ter)
n.461T>A
c.481T>A (p.Ter161Arg)
c.*121T>A (n.*121T>A)
c.666T>A (p.Cys222Ter)
n.501T>A
n.94T>A
c.573T>A (p.Cys191Ter)
c.801T>A (p.Cys267Ter)
c.708T>A (p.Cys236Ter)
Xg.19355411T>CCA515486012PDHA1c.687T>C (p.Cys229=)
c.*358T>C (n.*358T>C)
c.750T>C (p.Cys250=)
c.780T>C (p.Cys260=)
n.461T>C
c.481T>C (p.Ter161Arg)
c.*121T>C (n.*121T>C)
c.666T>C (p.Cys222=)
n.501T>C
n.94T>C
c.573T>C (p.Cys191=)
c.801T>C (p.Cys267=)
c.708T>C (p.Cys236=)
 dbSNP
Xg.19355411T>GCA412394489PDHA1c.687T>G (p.Cys229Trp)
c.*358T>G (n.*358T>G)
c.750T>G (p.Cys250Trp)
c.780T>G (p.Cys260Trp)
n.461T>G
c.481T>G (p.Ter161Gly)
c.*121T>G (n.*121T>G)
c.666T>G (p.Cys222Trp)
n.501T>G
n.94T>G
c.573T>G (p.Cys191Trp)
c.801T>G (p.Cys267Trp)
c.708T>G (p.Cys236Trp)
 gnomAD v4
Xg.19355411T=CA2418223606PDHA1c.687T= (p.Cys229=)
c.*358T= (n.*358T=)
c.750T= (p.Cys250=)
c.780T= (p.Cys260=)
n.461T=
c.481T= (p.Ter161=)
c.*121T= (n.*121T=)
c.666T= (p.Cys222=)
n.501T=
n.94T=
c.573T= (p.Cys191=)
c.801T= (p.Cys267=)
c.708T= (p.Cys236=)
Xg.19355412G>ACA412394490PDHA1c.688G>A (p.Glu230Lys)
c.*359G>A (n.*359G>A)
c.751G>A (p.Glu251Lys)
c.781G>A (p.Glu261Lys)
n.462G>A
c.482G>A (p.Ter161=)
c.*122G>A (n.*122G>A)
c.667G>A (p.Glu223Lys)
n.502G>A
n.95G>A
c.574G>A (p.Glu192Lys)
c.802G>A (p.Glu268Lys)
c.709G>A (p.Glu237Lys)
Xg.19355412G>CCA412394491PDHA1c.688G>C (p.Glu230Gln)
c.*359G>C (n.*359G>C)
c.751G>C (p.Glu251Gln)
c.781G>C (p.Glu261Gln)
n.462G>C
c.482G>C (p.Ter161Ser)
c.*122G>C (n.*122G>C)
c.667G>C (p.Glu223Gln)
n.502G>C
n.95G>C
c.574G>C (p.Glu192Gln)
c.802G>C (p.Glu268Gln)
c.709G>C (p.Glu237Gln)
Xg.19355412G>TCA412394492PDHA1c.688G>T (p.Glu230Ter)
c.*359G>T (n.*359G>T)
c.751G>T (p.Glu251Ter)
c.781G>T (p.Glu261Ter)
n.462G>T
c.482G>T (p.Ter161Leu)
c.*122G>T (n.*122G>T)
c.667G>T (p.Glu223Ter)
n.502G>T
n.95G>T
c.574G>T (p.Glu192Ter)
c.802G>T (p.Glu268Ter)
c.709G>T (p.Glu237Ter)
Xg.19355413A>CCA412394493PDHA1c.689A>C (p.Glu230Ala)
c.*360A>C (n.*360A>C)
c.752A>C (p.Glu251Ala)
c.782A>C (p.Glu261Ala)
n.463A>C
c.483A>C (p.Ter161Cys)
c.*123A>C (n.*123A>C)
c.668A>C (p.Glu223Ala)
n.503A>C
n.96A>C
c.575A>C (p.Glu192Ala)
c.803A>C (p.Glu268Ala)
c.710A>C (p.Glu237Ala)
Xg.19355413A>GCA412394494PDHA1c.689A>G (p.Glu230Gly)
c.*360A>G (n.*360A>G)
c.752A>G (p.Glu251Gly)
c.782A>G (p.Glu261Gly)
n.463A>G
c.483A>G (p.Ter161Trp)
c.*123A>G (n.*123A>G)
c.668A>G (p.Glu223Gly)
n.503A>G
n.96A>G
c.575A>G (p.Glu192Gly)
c.803A>G (p.Glu268Gly)
c.710A>G (p.Glu237Gly)
Xg.19355413A>TCA412394495PDHA1c.689A>T (p.Glu230Val)
c.*360A>T (n.*360A>T)
c.752A>T (p.Glu251Val)
c.782A>T (p.Glu261Val)
n.463A>T
c.483A>T (p.Ter161Cys)
c.*123A>T (n.*123A>T)
c.668A>T (p.Glu223Val)
n.503A>T
n.96A>T
c.575A>T (p.Glu192Val)
c.803A>T (p.Glu268Val)
c.710A>T (p.Glu237Val)
Xg.19355414G>ACA515486013PDHA1c.690G>A (p.Glu230=)
c.*361G>A (n.*361G>A)
c.753G>A (p.Glu251=)
c.783G>A (p.Glu261=)
n.464G>A
c.*1G>A (n.*1G>A)
c.*124G>A (n.*124G>A)
c.669G>A (p.Glu223=)
n.504G>A
n.97G>A
c.576G>A (p.Glu192=)
c.804G>A (p.Glu268=)
c.711G>A (p.Glu237=)
Xg.19355414G>CCA412394496PDHA1c.690G>C (p.Glu230Asp)
c.*361G>C (n.*361G>C)
c.753G>C (p.Glu251Asp)
c.783G>C (p.Glu261Asp)
n.464G>C
c.*1G>C (n.*1G>C)
c.*124G>C (n.*124G>C)
c.669G>C (p.Glu223Asp)
n.504G>C
n.97G>C
c.576G>C (p.Glu192Asp)
c.804G>C (p.Glu268Asp)
c.711G>C (p.Glu237Asp)
 COSMIC COSMIC
Xg.19355414G>TCA412394497PDHA1c.690G>T (p.Glu230Asp)
c.*361G>T (n.*361G>T)
c.753G>T (p.Glu251Asp)
c.783G>T (p.Glu261Asp)
n.464G>T
c.*1G>T (n.*1G>T)
c.*124G>T (n.*124G>T)
c.669G>T (p.Glu223Asp)
n.504G>T
n.97G>T
c.576G>T (p.Glu192Asp)
c.804G>T (p.Glu268Asp)
c.711G>T (p.Glu237Asp)
Xg.19355415A>CCA412394498PDHA1c.691A>C (p.Asn231His)
c.*362A>C (n.*362A>C)
c.754A>C (p.Asn252His)
c.784A>C (p.Asn262His)
n.465A>C
c.*2A>C (n.*2A>C)
c.*125A>C (n.*125A>C)
c.670A>C (p.Asn224His)
n.505A>C
n.98A>C
c.577A>C (p.Asn193His)
c.805A>C (p.Asn269His)
c.712A>C (p.Asn238His)
Xg.19355415A>GCA412394499PDHA1c.691A>G (p.Asn231Asp)
c.*362A>G (n.*362A>G)
c.754A>G (p.Asn252Asp)
c.784A>G (p.Asn262Asp)
n.465A>G
c.*2A>G (n.*2A>G)
c.*125A>G (n.*125A>G)
c.670A>G (p.Asn224Asp)
n.505A>G
n.98A>G
c.577A>G (p.Asn193Asp)
c.805A>G (p.Asn269Asp)
c.712A>G (p.Asn238Asp)
Xg.19355415A>TCA412394500PDHA1c.691A>T (p.Asn231Tyr)
c.*362A>T (n.*362A>T)
c.754A>T (p.Asn252Tyr)
c.784A>T (p.Asn262Tyr)
n.465A>T
c.*2A>T (n.*2A>T)
c.*125A>T (n.*125A>T)
c.670A>T (p.Asn224Tyr)
n.505A>T
n.98A>T
c.577A>T (p.Asn193Tyr)
c.805A>T (p.Asn269Tyr)
c.712A>T (p.Asn238Tyr)
Xg.19355416A>CCA412394503PDHA1c.692A>C (p.Asn231Thr)
c.*363A>C (n.*363A>C)
c.755A>C (p.Asn252Thr)
c.785A>C (p.Asn262Thr)
n.466A>C
c.*3A>C (n.*3A>C)
c.*126A>C (n.*126A>C)
c.671A>C (p.Asn224Thr)
n.506A>C
n.99A>C
c.578A>C (p.Asn193Thr)
c.806A>C (p.Asn269Thr)
c.713A>C (p.Asn238Thr)
Xg.19355416A>GCA412394502PDHA1c.692A>G (p.Asn231Ser)
c.*363A>G (n.*363A>G)
c.755A>G (p.Asn252Ser)
c.785A>G (p.Asn262Ser)
n.466A>G
c.*3A>G (n.*3A>G)
c.*126A>G (n.*126A>G)
c.671A>G (p.Asn224Ser)
n.506A>G
n.99A>G
c.578A>G (p.Asn193Ser)
c.806A>G (p.Asn269Ser)
c.713A>G (p.Asn238Ser)
Xg.19355416A>TCA412394501PDHA1c.692A>T (p.Asn231Ile)
c.*363A>T (n.*363A>T)
c.755A>T (p.Asn252Ile)
c.785A>T (p.Asn262Ile)
n.466A>T
c.*3A>T (n.*3A>T)
c.*126A>T (n.*126A>T)
c.671A>T (p.Asn224Ile)
n.506A>T
n.99A>T
c.578A>T (p.Asn193Ile)
c.806A>T (p.Asn269Ile)
c.713A>T (p.Asn238Ile)
Xg.19355417T>ACA412394504PDHA1c.693T>A (p.Asn231Lys)
c.*364T>A (n.*364T>A)
c.756T>A (p.Asn252Lys)
c.786T>A (p.Asn262Lys)
n.467T>A
c.*4T>A (n.*4T>A)
c.*127T>A (n.*127T>A)
c.672T>A (p.Asn224Lys)
n.507T>A
n.100T>A
c.579T>A (p.Asn193Lys)
c.807T>A (p.Asn269Lys)
c.714T>A (p.Asn238Lys)
Xg.19355417T>CCA515486014PDHA1c.693T>C (p.Asn231=)
c.*364T>C (n.*364T>C)
c.756T>C (p.Asn252=)
c.786T>C (p.Asn262=)
n.467T>C
c.*4T>C (n.*4T>C)
c.*127T>C (n.*127T>C)
c.672T>C (p.Asn224=)
n.507T>C
n.100T>C
c.579T>C (p.Asn193=)
c.807T>C (p.Asn269=)
c.714T>C (p.Asn238=)
 ClinVar dbSNP
Xg.19355417T>GCA412394505PDHA1c.693T>G (p.Asn231Lys)
c.*364T>G (n.*364T>G)
c.756T>G (p.Asn252Lys)
c.786T>G (p.Asn262Lys)
n.467T>G
c.*4T>G (n.*4T>G)
c.*127T>G (n.*127T>G)
c.672T>G (p.Asn224Lys)
n.507T>G
n.100T>G
c.579T>G (p.Asn193Lys)
c.807T>G (p.Asn269Lys)
c.714T>G (p.Asn238Lys)
Xg.19355418A>CCA412394506PDHA1c.694A>C (p.Asn232His)
c.*365A>C (n.*365A>C)
c.757A>C (p.Asn253His)
c.787A>C (p.Asn263His)
n.468A>C
c.*5A>C (n.*5A>C)
c.*128A>C (n.*128A>C)
c.673A>C (p.Asn225His)
n.508A>C
n.101A>C
c.580A>C (p.Asn194His)
c.808A>C (p.Asn270His)
c.715A>C (p.Asn239His)
Xg.19355418A>GCA412394507PDHA1c.694A>G (p.Asn232Asp)
c.*365A>G (n.*365A>G)
c.757A>G (p.Asn253Asp)
c.787A>G (p.Asn263Asp)
n.468A>G
c.*5A>G (n.*5A>G)
c.*128A>G (n.*128A>G)
c.673A>G (p.Asn225Asp)
n.508A>G
n.101A>G
c.580A>G (p.Asn194Asp)
c.808A>G (p.Asn270Asp)
c.715A>G (p.Asn239Asp)
Xg.19355418A>TCA412394508PDHA1c.694A>T (p.Asn232Tyr)
c.*365A>T (n.*365A>T)
c.757A>T (p.Asn253Tyr)
c.787A>T (p.Asn263Tyr)
n.468A>T
c.*5A>T (n.*5A>T)
c.*128A>T (n.*128A>T)
c.673A>T (p.Asn225Tyr)
n.508A>T
n.101A>T
c.580A>T (p.Asn194Tyr)
c.808A>T (p.Asn270Tyr)
c.715A>T (p.Asn239Tyr)
Xg.19355419A>CCA412394509PDHA1c.695A>C (p.Asn232Thr)
c.*366A>C (n.*366A>C)
c.758A>C (p.Asn253Thr)
c.788A>C (p.Asn263Thr)
n.469A>C
c.*6A>C (n.*6A>C)
c.*129A>C (n.*129A>C)
c.674A>C (p.Asn225Thr)
n.509A>C
n.102A>C
c.581A>C (p.Asn194Thr)
c.809A>C (p.Asn270Thr)
c.716A>C (p.Asn239Thr)
Xg.19355419A>GCA412394510PDHA1c.695A>G (p.Asn232Ser)
c.*366A>G (n.*366A>G)
c.758A>G (p.Asn253Ser)
c.788A>G (p.Asn263Ser)
n.469A>G
c.*6A>G (n.*6A>G)
c.*129A>G (n.*129A>G)
c.674A>G (p.Asn225Ser)
n.509A>G
n.102A>G
c.581A>G (p.Asn194Ser)
c.809A>G (p.Asn270Ser)
c.716A>G (p.Asn239Ser)
Xg.19355419A>TCA412394511PDHA1c.695A>T (p.Asn232Ile)
c.*366A>T (n.*366A>T)
c.758A>T (p.Asn253Ile)
c.788A>T (p.Asn263Ile)
n.469A>T
c.*6A>T (n.*6A>T)
c.*129A>T (n.*129A>T)
c.674A>T (p.Asn225Ile)
n.509A>T
n.102A>T
c.581A>T (p.Asn194Ile)
c.809A>T (p.Asn270Ile)
c.716A>T (p.Asn239Ile)
Xg.19355420T>ACA412394512PDHA1c.696T>A (p.Asn232Lys)
c.*367T>A (n.*367T>A)
c.759T>A (p.Asn253Lys)
c.789T>A (p.Asn263Lys)
n.470T>A
c.*7T>A (n.*7T>A)
c.*130T>A (n.*130T>A)
c.675T>A (p.Asn225Lys)
n.510T>A
n.103T>A
c.582T>A (p.Asn194Lys)
c.810T>A (p.Asn270Lys)
c.717T>A (p.Asn239Lys)
Xg.19355420T>CCA515486015PDHA1c.696T>C (p.Asn232=)
c.*367T>C (n.*367T>C)
c.759T>C (p.Asn253=)
c.789T>C (p.Asn263=)
n.470T>C
c.*7T>C (n.*7T>C)
c.*130T>C (n.*130T>C)
c.675T>C (p.Asn225=)
n.510T>C
n.103T>C
c.582T>C (p.Asn194=)
c.810T>C (p.Asn270=)
c.717T>C (p.Asn239=)
 dbSNP
Xg.19355420T>GCA412394513PDHA1c.696T>G (p.Asn232Lys)
c.*367T>G (n.*367T>G)
c.759T>G (p.Asn253Lys)
c.789T>G (p.Asn263Lys)
n.470T>G
c.*7T>G (n.*7T>G)
c.*130T>G (n.*130T>G)
c.675T>G (p.Asn225Lys)
n.510T>G
n.103T>G
c.582T>G (p.Asn194Lys)
c.810T>G (p.Asn270Lys)
c.717T>G (p.Asn239Lys)
Xg.19355420T=CA2418223607PDHA1c.696T= (p.Asn232=)
c.*367T= (n.*367T=)
c.759T= (p.Asn253=)
c.789T= (p.Asn263=)
n.470T=
c.*7T= (n.*7T=)
c.*130T= (n.*130T=)
c.675T= (p.Asn225=)
n.510T=
n.103T=
c.582T= (p.Asn194=)
c.810T= (p.Asn270=)
c.717T= (p.Asn239=)
Xg.19355421C>ACA412394514PDHA1c.697C>A (p.Arg233Ser)
c.*368C>A (n.*368C>A)
c.760C>A (p.Arg254Ser)
c.790C>A (p.Arg264Ser)
n.471C>A
c.*8C>A (n.*8C>A)
c.*131C>A (n.*131C>A)
c.676C>A (p.Arg226Ser)
n.511C>A
n.104C>A
c.583C>A (p.Arg195Ser)
c.811C>A (p.Arg271Ser)
c.718C>A (p.Arg240Ser)
Xg.19355421C>GCA412394515PDHA1c.697C>G (p.Arg233Gly)
c.*368C>G (n.*368C>G)
c.760C>G (p.Arg254Gly)
c.790C>G (p.Arg264Gly)
n.471C>G
c.*8C>G (n.*8C>G)
c.*131C>G (n.*131C>G)
c.676C>G (p.Arg226Gly)
n.511C>G
n.104C>G
c.583C>G (p.Arg195Gly)
c.811C>G (p.Arg271Gly)
c.718C>G (p.Arg240Gly)
Xg.19355421C>TCA412394516PDHA1c.697C>T (p.Arg233Cys)
c.*368C>T (n.*368C>T)
c.760C>T (p.Arg254Cys)
c.790C>T (p.Arg264Cys)
n.471C>T
c.*8C>T (n.*8C>T)
c.*131C>T (n.*131C>T)
c.676C>T (p.Arg226Cys)
n.511C>T
n.104C>T
c.583C>T (p.Arg195Cys)
c.811C>T (p.Arg271Cys)
c.718C>T (p.Arg240Cys)
 gnomAD v4
Xg.19355422G>ACA412394518PDHA1c.698G>A (p.Arg233His)
c.*369G>A (n.*369G>A)
c.761G>A (p.Arg254His)
c.791G>A (p.Arg264His)
n.472G>A
c.*9G>A (n.*9G>A)
c.*132G>A (n.*132G>A)
c.677G>A (p.Arg226His)
n.512G>A
n.105G>A
c.584G>A (p.Arg195His)
c.812G>A (p.Arg271His)
c.719G>A (p.Arg240His)
 gnomAD v4 COSMIC COSMIC COSMIC
Xg.19355422G>CCA412394519PDHA1c.698G>C (p.Arg233Pro)
c.*369G>C (n.*369G>C)
c.761G>C (p.Arg254Pro)
c.791G>C (p.Arg264Pro)
n.472G>C
c.*9G>C (n.*9G>C)
c.*132G>C (n.*132G>C)
c.677G>C (p.Arg226Pro)
n.512G>C
n.105G>C
c.584G>C (p.Arg195Pro)
c.812G>C (p.Arg271Pro)
c.719G>C (p.Arg240Pro)
Xg.19355422G>TCA412394517PDHA1c.698G>T (p.Arg233Leu)
c.*369G>T (n.*369G>T)
c.761G>T (p.Arg254Leu)
c.791G>T (p.Arg264Leu)
n.472G>T
c.*9G>T (n.*9G>T)
c.*132G>T (n.*132G>T)
c.677G>T (p.Arg226Leu)
n.512G>T
n.105G>T
c.584G>T (p.Arg195Leu)
c.812G>T (p.Arg271Leu)
c.719G>T (p.Arg240Leu)
Xg.19355423C>ACA515486018PDHA1c.699C>A (p.Arg233=)
c.*370C>A (n.*370C>A)
c.762C>A (p.Arg254=)
c.792C>A (p.Arg264=)
n.473C>A
c.*10C>A (n.*10C>A)
c.*133C>A (n.*133C>A)
c.678C>A (p.Arg226=)
n.513C>A
n.106C>A
c.585C>A (p.Arg195=)
c.813C>A (p.Arg271=)
c.720C>A (p.Arg240=)
Xg.19355423C>GCA515486017PDHA1c.699C>G (p.Arg233=)
c.*370C>G (n.*370C>G)
c.762C>G (p.Arg254=)
c.792C>G (p.Arg264=)
n.473C>G
c.*10C>G (n.*10C>G)
c.*133C>G (n.*133C>G)
c.678C>G (p.Arg226=)
n.513C>G
n.106C>G
c.585C>G (p.Arg195=)
c.813C>G (p.Arg271=)
c.720C>G (p.Arg240=)
Xg.19355423C>TCA515486016PDHA1c.699C>T (p.Arg233=)
c.*370C>T (n.*370C>T)
c.762C>T (p.Arg254=)
c.792C>T (p.Arg264=)
n.473C>T
c.*10C>T (n.*10C>T)
c.*133C>T (n.*133C>T)
c.678C>T (p.Arg226=)
n.513C>T
n.106C>T
c.585C>T (p.Arg195=)
c.813C>T (p.Arg271=)
c.720C>T (p.Arg240=)
Xg.19355424T>ACA412394520PDHA1c.700T>A (p.Tyr234Asn)
c.*371T>A (n.*371T>A)
c.763T>A (p.Tyr255Asn)
c.793T>A (p.Tyr265Asn)
n.474T>A
c.*11T>A (n.*11T>A)
c.*134T>A (n.*134T>A)
c.679T>A (p.Tyr227Asn)
n.514T>A
n.107T>A
c.586T>A (p.Tyr196Asn)
c.814T>A (p.Tyr272Asn)
c.721T>A (p.Tyr241Asn)
Xg.19355424T>CCA412394521PDHA1c.700T>C (p.Tyr234His)
c.*371T>C (n.*371T>C)
c.763T>C (p.Tyr255His)
c.793T>C (p.Tyr265His)
n.474T>C
c.*11T>C (n.*11T>C)
c.*134T>C (n.*134T>C)
c.679T>C (p.Tyr227His)
n.514T>C
n.107T>C
c.586T>C (p.Tyr196His)
c.814T>C (p.Tyr272His)
c.721T>C (p.Tyr241His)
 ClinVar dbSNP
Xg.19355424T>GCA412394522PDHA1c.700T>G (p.Tyr234Asp)
c.*371T>G (n.*371T>G)
c.763T>G (p.Tyr255Asp)
c.793T>G (p.Tyr265Asp)
n.474T>G
c.*11T>G (n.*11T>G)
c.*134T>G (n.*134T>G)
c.679T>G (p.Tyr227Asp)
n.514T>G
n.107T>G
c.586T>G (p.Tyr196Asp)
c.814T>G (p.Tyr272Asp)
c.721T>G (p.Tyr241Asp)
Xg.19355425A>CCA412394523PDHA1c.701A>C (p.Tyr234Ser)
c.*372A>C (n.*372A>C)
c.764A>C (p.Tyr255Ser)
c.794A>C (p.Tyr265Ser)
n.475A>C
c.*12A>C (n.*12A>C)
c.*135A>C (n.*135A>C)
c.680A>C (p.Tyr227Ser)
n.515A>C
n.108A>C
c.587A>C (p.Tyr196Ser)
c.815A>C (p.Tyr272Ser)
c.722A>C (p.Tyr241Ser)
Xg.19355425A>GCA412394524PDHA1c.701A>G (p.Tyr234Cys)
c.*372A>G (n.*372A>G)
c.764A>G (p.Tyr255Cys)
c.794A>G (p.Tyr265Cys)
n.475A>G
c.*12A>G (n.*12A>G)
c.*135A>G (n.*135A>G)
c.680A>G (p.Tyr227Cys)
n.515A>G
n.108A>G
c.587A>G (p.Tyr196Cys)
c.815A>G (p.Tyr272Cys)
c.722A>G (p.Tyr241Cys)
Xg.19355425A>TCA412394525PDHA1c.701A>T (p.Tyr234Phe)
c.*372A>T (n.*372A>T)
c.764A>T (p.Tyr255Phe)
c.794A>T (p.Tyr265Phe)
n.475A>T
c.*12A>T (n.*12A>T)
c.*135A>T (n.*135A>T)
c.680A>T (p.Tyr227Phe)
n.515A>T
n.108A>T
c.587A>T (p.Tyr196Phe)
c.815A>T (p.Tyr272Phe)
c.722A>T (p.Tyr241Phe)
Xg.19355426T>ACA412394526PDHA1c.702T>A (p.Tyr234Ter)
c.*373T>A (n.*373T>A)
c.765T>A (p.Tyr255Ter)
c.795T>A (p.Tyr265Ter)
n.476T>A
c.*13T>A (n.*13T>A)
c.*136T>A (n.*136T>A)
c.681T>A (p.Tyr227Ter)
n.516T>A
n.109T>A
c.588T>A (p.Tyr196Ter)
c.816T>A (p.Tyr272Ter)
c.723T>A (p.Tyr241Ter)
Xg.19355426T>CCA515486019PDHA1c.702T>C (p.Tyr234=)
c.*373T>C (n.*373T>C)
c.765T>C (p.Tyr255=)
c.795T>C (p.Tyr265=)
n.476T>C
c.*13T>C (n.*13T>C)
c.*136T>C (n.*136T>C)
c.681T>C (p.Tyr227=)
n.516T>C
n.109T>C
c.588T>C (p.Tyr196=)
c.816T>C (p.Tyr272=)
c.723T>C (p.Tyr241=)
 ClinVar
Xg.19355426T>GCA412394527PDHA1c.702T>G (p.Tyr234Ter)
c.*373T>G (n.*373T>G)
c.765T>G (p.Tyr255Ter)
c.795T>G (p.Tyr265Ter)
n.476T>G
c.*13T>G (n.*13T>G)
c.*136T>G (n.*136T>G)
c.681T>G (p.Tyr227Ter)
n.516T>G
n.109T>G
c.588T>G (p.Tyr196Ter)
c.816T>G (p.Tyr272Ter)
c.723T>G (p.Tyr241Ter)
Xg.19355427G>ACA412394528PDHA1c.703G>A (p.Gly235Arg)
c.*374G>A (n.*374G>A)
c.766G>A (p.Gly256Arg)
c.796G>A (p.Gly266Arg)
n.477G>A
c.*14G>A (n.*14G>A)
c.*137G>A (n.*137G>A)
c.682G>A (p.Gly228Arg)
n.517G>A
n.110G>A
c.589G>A (p.Gly197Arg)
c.817G>A (p.Gly273Arg)
c.724G>A (p.Gly242Arg)
Xg.19355427G>CCA412394529PDHA1c.703G>C (p.Gly235Arg)
c.*374G>C (n.*374G>C)
c.766G>C (p.Gly256Arg)
c.796G>C (p.Gly266Arg)
n.477G>C
c.*14G>C (n.*14G>C)
c.*137G>C (n.*137G>C)
c.682G>C (p.Gly228Arg)
n.517G>C
n.110G>C
c.589G>C (p.Gly197Arg)
c.817G>C (p.Gly273Arg)
c.724G>C (p.Gly242Arg)
Xg.19355427G>TCA412394530PDHA1c.703G>T (p.Gly235Ter)
c.*374G>T (n.*374G>T)
c.766G>T (p.Gly256Ter)
c.796G>T (p.Gly266Ter)
n.477G>T
c.*14G>T (n.*14G>T)
c.*137G>T (n.*137G>T)
c.682G>T (p.Gly228Ter)
n.517G>T
n.110G>T
c.589G>T (p.Gly197Ter)
c.817G>T (p.Gly273Ter)
c.724G>T (p.Gly242Ter)
Xg.19355428G>ACA412394533PDHA1c.704G>A (p.Gly235Glu)
c.*375G>A (n.*375G>A)
c.767G>A (p.Gly256Glu)
c.797G>A (p.Gly266Glu)
n.478G>A
c.*15G>A (n.*15G>A)
c.*138G>A (n.*138G>A)
c.683G>A (p.Gly228Glu)
n.518G>A
n.111G>A
c.590G>A (p.Gly197Glu)
c.818G>A (p.Gly273Glu)
c.725G>A (p.Gly242Glu)
Xg.19355428G>CCA412394532PDHA1c.704G>C (p.Gly235Ala)
c.*375G>C (n.*375G>C)
c.767G>C (p.Gly256Ala)
c.797G>C (p.Gly266Ala)
n.478G>C
c.*15G>C (n.*15G>C)
c.*138G>C (n.*138G>C)
c.683G>C (p.Gly228Ala)
n.518G>C
n.111G>C
c.590G>C (p.Gly197Ala)
c.818G>C (p.Gly273Ala)
c.725G>C (p.Gly242Ala)
Xg.19355428G>TCA412394531PDHA1c.704G>T (p.Gly235Val)
c.*375G>T (n.*375G>T)
c.767G>T (p.Gly256Val)
c.797G>T (p.Gly266Val)
n.478G>T
c.*15G>T (n.*15G>T)
c.*138G>T (n.*138G>T)
c.683G>T (p.Gly228Val)
n.518G>T
n.111G>T
c.590G>T (p.Gly197Val)
c.818G>T (p.Gly273Val)
c.725G>T (p.Gly242Val)
Xg.19355429A=CA2418223608PDHA1c.705A= (p.Gly235=)
c.*376A= (n.*376A=)
c.768A= (p.Gly256=)
c.798A= (p.Gly266=)
n.479A=
c.*16A= (n.*16A=)
c.*139A= (n.*139A=)
c.684A= (p.Gly228=)
n.519A=
n.112A=
c.591A= (p.Gly197=)
c.819A= (p.Gly273=)
c.726A= (p.Gly242=)
Xg.19355429A>CCA515486020PDHA1c.705A>C (p.Gly235=)
c.*376A>C (n.*376A>C)
c.768A>C (p.Gly256=)
c.798A>C (p.Gly266=)
n.479A>C
c.*16A>C (n.*16A>C)
c.*139A>C (n.*139A>C)
c.684A>C (p.Gly228=)
n.519A>C
n.112A>C
c.591A>C (p.Gly197=)
c.819A>C (p.Gly273=)
c.726A>C (p.Gly242=)
 dbSNP
Xg.19355429A>GCA515486022PDHA1c.705A>G (p.Gly235=)
c.*376A>G (n.*376A>G)
c.768A>G (p.Gly256=)
c.798A>G (p.Gly266=)
n.479A>G
c.*16A>G (n.*16A>G)
c.*139A>G (n.*139A>G)
c.684A>G (p.Gly228=)
n.519A>G
n.112A>G
c.591A>G (p.Gly197=)
c.819A>G (p.Gly273=)
c.726A>G (p.Gly242=)
Xg.19355429A>TCA515486021PDHA1c.705A>T (p.Gly235=)
c.*376A>T (n.*376A>T)
c.768A>T (p.Gly256=)
c.798A>T (p.Gly266=)
n.479A>T
c.*16A>T (n.*16A>T)
c.*139A>T (n.*139A>T)
c.684A>T (p.Gly228=)
n.519A>T
n.112A>T
c.591A>T (p.Gly197=)
c.819A>T (p.Gly273=)
c.726A>T (p.Gly242=)
Xg.19355430A>CCA412394534PDHA1c.706A>C (p.Met236Leu)
c.*377A>C (n.*377A>C)
c.769A>C (p.Met257Leu)
c.799A>C (p.Met267Leu)
n.480A>C
c.*17A>C (n.*17A>C)
c.*140A>C (n.*140A>C)
c.685A>C (p.Met229Leu)
n.520A>C
n.113A>C
c.592A>C (p.Met198Leu)
c.820A>C (p.Met274Leu)
c.727A>C (p.Met243Leu)
Xg.19355430A>GCA412394535PDHA1c.706A>G (p.Met236Val)
c.*377A>G (n.*377A>G)
c.769A>G (p.Met257Val)
c.799A>G (p.Met267Val)
n.480A>G
c.*17A>G (n.*17A>G)
c.*140A>G (n.*140A>G)
c.685A>G (p.Met229Val)
n.520A>G
n.113A>G
c.592A>G (p.Met198Val)
c.820A>G (p.Met274Val)
c.727A>G (p.Met243Val)
Xg.19355430A>TCA412394536PDHA1c.706A>T (p.Met236Leu)
c.*377A>T (n.*377A>T)
c.769A>T (p.Met257Leu)
c.799A>T (p.Met267Leu)
n.480A>T
c.*17A>T (n.*17A>T)
c.*140A>T (n.*140A>T)
c.685A>T (p.Met229Leu)
n.520A>T
n.113A>T
c.592A>T (p.Met198Leu)
c.820A>T (p.Met274Leu)
c.727A>T (p.Met243Leu)
 ClinVar dbSNP
Xg.19355431T>ACA412394537PDHA1c.707T>A (p.Met236Lys)
c.*378T>A (n.*378T>A)
c.770T>A (p.Met257Lys)
c.800T>A (p.Met267Lys)
n.481T>A
c.*18T>A (n.*18T>A)
c.*141T>A (n.*141T>A)
c.686T>A (p.Met229Lys)
n.521T>A
n.114T>A
c.593T>A (p.Met198Lys)
c.821T>A (p.Met274Lys)
c.728T>A (p.Met243Lys)
Xg.19355431T>CCA412394538PDHA1c.707T>C (p.Met236Thr)
c.*378T>C (n.*378T>C)
c.770T>C (p.Met257Thr)
c.800T>C (p.Met267Thr)
n.481T>C
c.*18T>C (n.*18T>C)
c.*141T>C (n.*141T>C)
c.686T>C (p.Met229Thr)
n.521T>C
n.114T>C
c.593T>C (p.Met198Thr)
c.821T>C (p.Met274Thr)
c.728T>C (p.Met243Thr)
Xg.19355431T>GCA412394539PDHA1c.707T>G (p.Met236Arg)
c.*378T>G (n.*378T>G)
c.770T>G (p.Met257Arg)
c.800T>G (p.Met267Arg)
n.481T>G
c.*18T>G (n.*18T>G)
c.*141T>G (n.*141T>G)
c.686T>G (p.Met229Arg)
n.521T>G
n.114T>G
c.593T>G (p.Met198Arg)
c.821T>G (p.Met274Arg)
c.728T>G (p.Met243Arg)
Xg.19355433_19355445delCA2580100434PDHA1c.709_721del (p.Gly237ArgfsTer19)
c.*380_*392del (n.*380_*392del)
c.772_784del (p.Gly258ArgfsTer19)
c.802_814del (p.Gly268ArgfsTer19)
n.483_495del
c.*20_*32del (n.*20_*32del)
c.*143_*155del (n.*143_*155del)
c.688_700del (p.Gly230ArgfsTer19)
n.523_535del
n.116_128del
c.595_607del (p.Gly199ArgfsTer19)
c.823_835del (p.Gly275ArgfsTer19)
c.730_742del (p.Gly244ArgfsTer19)
 ClinVar
Xg.19355432G>ACA412394540PDHA1c.708G>A (p.Met236Ile)
c.*379G>A (n.*379G>A)
c.771G>A (p.Met257Ile)
c.801G>A (p.Met267Ile)
n.482G>A
c.*19G>A (n.*19G>A)
c.*142G>A (n.*142G>A)
c.687G>A (p.Met229Ile)
n.522G>A
n.115G>A
c.594G>A (p.Met198Ile)
c.822G>A (p.Met274Ile)
c.729G>A (p.Met243Ile)
Xg.19355432G>CCA412394541PDHA1c.708G>C (p.Met236Ile)
c.*379G>C (n.*379G>C)
c.771G>C (p.Met257Ile)
c.801G>C (p.Met267Ile)
n.482G>C
c.*19G>C (n.*19G>C)
c.*142G>C (n.*142G>C)
c.687G>C (p.Met229Ile)
n.522G>C
n.115G>C
c.594G>C (p.Met198Ile)
c.822G>C (p.Met274Ile)
c.729G>C (p.Met243Ile)
 ClinVar dbSNP
Xg.19355432G=CA2418223609PDHA1c.708G= (p.Met236=)
c.*379G= (n.*379G=)
c.771G= (p.Met257=)
c.801G= (p.Met267=)
n.482G=
c.*19G= (n.*19G=)
c.*142G= (n.*142G=)
c.687G= (p.Met229=)
n.522G=
n.115G=
c.594G= (p.Met198=)
c.822G= (p.Met274=)
c.729G= (p.Met243=)
Xg.19355432G>TCA412394542PDHA1c.708G>T (p.Met236Ile)
c.*379G>T (n.*379G>T)
c.771G>T (p.Met257Ile)
c.801G>T (p.Met267Ile)
n.482G>T
c.*19G>T (n.*19G>T)
c.*142G>T (n.*142G>T)
c.687G>T (p.Met229Ile)
n.522G>T
n.115G>T
c.594G>T (p.Met198Ile)
c.822G>T (p.Met274Ile)
c.729G>T (p.Met243Ile)
Xg.19355433G>ACA412394543PDHA1c.709G>A (p.Gly237Arg)
c.*380G>A (n.*380G>A)
c.772G>A (p.Gly258Arg)
c.802G>A (p.Gly268Arg)
n.483G>A
c.*20G>A (n.*20G>A)
c.*143G>A (n.*143G>A)
c.688G>A (p.Gly230Arg)
n.523G>A
n.116G>A
c.595G>A (p.Gly199Arg)
c.823G>A (p.Gly275Arg)
c.730G>A (p.Gly244Arg)
Xg.19355433G>CCA412394544PDHA1c.709G>C (p.Gly237Arg)
c.*380G>C (n.*380G>C)
c.772G>C (p.Gly258Arg)
c.802G>C (p.Gly268Arg)
n.483G>C
c.*20G>C (n.*20G>C)
c.*143G>C (n.*143G>C)
c.688G>C (p.Gly230Arg)
n.523G>C
n.116G>C
c.595G>C (p.Gly199Arg)
c.823G>C (p.Gly275Arg)
c.730G>C (p.Gly244Arg)
Xg.19355433G>TCA412394545PDHA1c.709G>T (p.Gly237Ter)
c.*380G>T (n.*380G>T)
c.772G>T (p.Gly258Ter)
c.802G>T (p.Gly268Ter)
n.483G>T
c.*20G>T (n.*20G>T)
c.*143G>T (n.*143G>T)
c.688G>T (p.Gly230Ter)
n.523G>T
n.116G>T
c.595G>T (p.Gly199Ter)
c.823G>T (p.Gly275Ter)
c.730G>T (p.Gly244Ter)
Xg.19355434G>ACA412394548PDHA1c.710G>A (p.Gly237Glu)
c.*381G>A (n.*381G>A)
c.773G>A (p.Gly258Glu)
c.803G>A (p.Gly268Glu)
n.484G>A
c.*21G>A (n.*21G>A)
c.*144G>A (n.*144G>A)
c.689G>A (p.Gly230Glu)
n.524G>A
n.117G>A
c.596G>A (p.Gly199Glu)
c.824G>A (p.Gly275Glu)
c.731G>A (p.Gly244Glu)
Xg.19355434G>CCA412394547PDHA1c.710G>C (p.Gly237Ala)
c.*381G>C (n.*381G>C)
c.773G>C (p.Gly258Ala)
c.803G>C (p.Gly268Ala)
n.484G>C
c.*21G>C (n.*21G>C)
c.*144G>C (n.*144G>C)
c.689G>C (p.Gly230Ala)
n.524G>C
n.117G>C
c.596G>C (p.Gly199Ala)
c.824G>C (p.Gly275Ala)
c.731G>C (p.Gly244Ala)
Xg.19355434G>TCA412394546PDHA1c.710G>T (p.Gly237Val)
c.*381G>T (n.*381G>T)
c.773G>T (p.Gly258Val)
c.803G>T (p.Gly268Val)
n.484G>T
c.*21G>T (n.*21G>T)
c.*144G>T (n.*144G>T)
c.689G>T (p.Gly230Val)
n.524G>T
n.117G>T
c.596G>T (p.Gly199Val)
c.824G>T (p.Gly275Val)
c.731G>T (p.Gly244Val)
Xg.19355435A>CCA515486024PDHA1c.711A>C (p.Gly237=)
c.*382A>C (n.*382A>C)
c.774A>C (p.Gly258=)
c.804A>C (p.Gly268=)
n.485A>C
c.*22A>C (n.*22A>C)
c.*145A>C (n.*145A>C)
c.690A>C (p.Gly230=)
n.525A>C
n.118A>C
c.597A>C (p.Gly199=)
c.825A>C (p.Gly275=)
c.732A>C (p.Gly244=)
Xg.19355435A>GCA515486025PDHA1c.711A>G (p.Gly237=)
c.*382A>G (n.*382A>G)
c.774A>G (p.Gly258=)
c.804A>G (p.Gly268=)
n.485A>G
c.*22A>G (n.*22A>G)
c.*145A>G (n.*145A>G)
c.690A>G (p.Gly230=)
n.525A>G
n.118A>G
c.597A>G (p.Gly199=)
c.825A>G (p.Gly275=)
c.732A>G (p.Gly244=)
Xg.19355435A>TCA515486026PDHA1c.711A>T (p.Gly237=)
c.*382A>T (n.*382A>T)
c.774A>T (p.Gly258=)
c.804A>T (p.Gly268=)
n.485A>T
c.*22A>T (n.*22A>T)
c.*145A>T (n.*145A>T)
c.690A>T (p.Gly230=)
n.525A>T
n.118A>T
c.597A>T (p.Gly199=)
c.825A>T (p.Gly275=)
c.732A>T (p.Gly244=)
Xg.19355436A>CCA412394549PDHA1c.712A>C (p.Thr238Pro)
c.*383A>C (n.*383A>C)
c.775A>C (p.Thr259Pro)
c.805A>C (p.Thr269Pro)
n.486A>C
c.*23A>C (n.*23A>C)
c.*146A>C (n.*146A>C)
c.691A>C (p.Thr231Pro)
n.526A>C
n.119A>C
c.598A>C (p.Thr200Pro)
c.826A>C (p.Thr276Pro)
c.733A>C (p.Thr245Pro)
Xg.19355436A>GCA412394551PDHA1c.712A>G (p.Thr238Ala)
c.*383A>G (n.*383A>G)
c.775A>G (p.Thr259Ala)
c.805A>G (p.Thr269Ala)
n.486A>G
c.*23A>G (n.*23A>G)
c.*146A>G (n.*146A>G)
c.691A>G (p.Thr231Ala)
n.526A>G
n.119A>G
c.598A>G (p.Thr200Ala)
c.826A>G (p.Thr276Ala)
c.733A>G (p.Thr245Ala)
Xg.19355436A>TCA412394550PDHA1c.712A>T (p.Thr238Ser)
c.*383A>T (n.*383A>T)
c.775A>T (p.Thr259Ser)
c.805A>T (p.Thr269Ser)
n.486A>T
c.*23A>T (n.*23A>T)
c.*146A>T (n.*146A>T)
c.691A>T (p.Thr231Ser)
n.526A>T
n.119A>T
c.598A>T (p.Thr200Ser)
c.826A>T (p.Thr276Ser)
c.733A>T (p.Thr245Ser)
Xg.19355437C>ACA412394552PDHA1c.713C>A (p.Thr238Lys)
c.*384C>A (n.*384C>A)
c.776C>A (p.Thr259Lys)
c.806C>A (p.Thr269Lys)
n.487C>A
c.*24C>A (n.*24C>A)
c.*147C>A (n.*147C>A)
c.692C>A (p.Thr231Lys)
n.527C>A
n.120C>A
c.599C>A (p.Thr200Lys)
c.827C>A (p.Thr276Lys)
c.734C>A (p.Thr245Lys)
Xg.19355437C=CA2418223610PDHA1c.713C= (p.Thr238=)
c.*384C= (n.*384C=)
c.776C= (p.Thr259=)
c.806C= (p.Thr269=)
n.487C=
c.*24C= (n.*24C=)
c.*147C= (n.*147C=)
c.692C= (p.Thr231=)
n.527C=
n.120C=
c.599C= (p.Thr200=)
c.827C= (p.Thr276=)
c.734C= (p.Thr245=)
Xg.19355437C>GCA412394554PDHA1c.713C>G (p.Thr238Arg)
c.*384C>G (n.*384C>G)
c.776C>G (p.Thr259Arg)
c.806C>G (p.Thr269Arg)
n.487C>G
c.*24C>G (n.*24C>G)
c.*147C>G (n.*147C>G)
c.692C>G (p.Thr231Arg)
n.527C>G
n.120C>G
c.599C>G (p.Thr200Arg)
c.827C>G (p.Thr276Arg)
c.734C>G (p.Thr245Arg)
 ClinVar dbSNP
Xg.19355437C>TCA412394553PDHA1c.713C>T (p.Thr238Met)
c.*384C>T (n.*384C>T)
c.776C>T (p.Thr259Met)
c.806C>T (p.Thr269Met)
n.487C>T
c.*24C>T (n.*24C>T)
c.*147C>T (n.*147C>T)
c.692C>T (p.Thr231Met)
n.527C>T
n.120C>T
c.599C>T (p.Thr200Met)
c.827C>T (p.Thr276Met)
c.734C>T (p.Thr245Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.19355438G>ACA10363078PDHA1c.714G>A (p.Thr238=)
c.*385G>A (n.*385G>A)
c.777G>A (p.Thr259=)
c.807G>A (p.Thr269=)
n.488G>A
c.*25G>A (n.*25G>A)
c.*148G>A (n.*148G>A)
c.693G>A (p.Thr231=)
n.528G>A
n.121G>A
c.600G>A (p.Thr200=)
c.828G>A (p.Thr276=)
c.735G>A (p.Thr245=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.19355438G>CCA515486028PDHA1c.714G>C (p.Thr238=)
c.*385G>C (n.*385G>C)
c.777G>C (p.Thr259=)
c.807G>C (p.Thr269=)
n.488G>C
c.*25G>C (n.*25G>C)
c.*148G>C (n.*148G>C)
c.693G>C (p.Thr231=)
n.528G>C
n.121G>C
c.600G>C (p.Thr200=)
c.828G>C (p.Thr276=)
c.735G>C (p.Thr245=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.19355438G=CA2418223611PDHA1c.714G= (p.Thr238=)
c.*385G= (n.*385G=)
c.777G= (p.Thr259=)
c.807G= (p.Thr269=)
n.488G=
c.*25G= (n.*25G=)
c.*148G= (n.*148G=)
c.693G= (p.Thr231=)
n.528G=
n.121G=
c.600G= (p.Thr200=)
c.828G= (p.Thr276=)
c.735G= (p.Thr245=)
Xg.19355438G>TCA515486029PDHA1c.714G>T (p.Thr238=)
c.*385G>T (n.*385G>T)
c.777G>T (p.Thr259=)
c.807G>T (p.Thr269=)
n.488G>T
c.*25G>T (n.*25G>T)
c.*148G>T (n.*148G>T)
c.693G>T (p.Thr231=)
n.528G>T
n.121G>T
c.600G>T (p.Thr200=)
c.828G>T (p.Thr276=)
c.735G>T (p.Thr245=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.19355439T>ACA412394555PDHA1c.715T>A (p.Ser239Thr)
c.*386T>A (n.*386T>A)
c.778T>A (p.Ser260Thr)
c.808T>A (p.Ser270Thr)
n.489T>A
c.*26T>A (n.*26T>A)
c.*149T>A (n.*149T>A)
c.694T>A (p.Ser232Thr)
n.529T>A
n.122T>A
c.601T>A (p.Ser201Thr)
c.829T>A (p.Ser277Thr)
c.736T>A (p.Ser246Thr)
Xg.19355439T>CCA412394556PDHA1c.715T>C (p.Ser239Pro)
c.*386T>C (n.*386T>C)
c.778T>C (p.Ser260Pro)
c.808T>C (p.Ser270Pro)
n.489T>C
c.*26T>C (n.*26T>C)
c.*149T>C (n.*149T>C)
c.694T>C (p.Ser232Pro)
n.529T>C
n.122T>C
c.601T>C (p.Ser201Pro)
c.829T>C (p.Ser277Pro)
c.736T>C (p.Ser246Pro)
Xg.19355439T>GCA412394557PDHA1c.715T>G (p.Ser239Ala)
c.*386T>G (n.*386T>G)
c.778T>G (p.Ser260Ala)
c.808T>G (p.Ser270Ala)
n.489T>G
c.*26T>G (n.*26T>G)
c.*149T>G (n.*149T>G)
c.694T>G (p.Ser232Ala)
n.529T>G
n.122T>G
c.601T>G (p.Ser201Ala)
c.829T>G (p.Ser277Ala)
c.736T>G (p.Ser246Ala)
Xg.19355440C>ACA412394558PDHA1c.716C>A (p.Ser239Tyr)
c.*387C>A (n.*387C>A)
c.779C>A (p.Ser260Tyr)
c.809C>A (p.Ser270Tyr)
n.490C>A
c.*27C>A (n.*27C>A)
c.*150C>A (n.*150C>A)
c.695C>A (p.Ser232Tyr)
n.530C>A
n.123C>A
c.602C>A (p.Ser201Tyr)
c.830C>A (p.Ser277Tyr)
c.737C>A (p.Ser246Tyr)
Xg.19355440C>GCA412394559PDHA1c.716C>G (p.Ser239Cys)
c.*387C>G (n.*387C>G)
c.779C>G (p.Ser260Cys)
c.809C>G (p.Ser270Cys)
n.490C>G
c.*27C>G (n.*27C>G)
c.*150C>G (n.*150C>G)
c.695C>G (p.Ser232Cys)
n.530C>G
n.123C>G
c.602C>G (p.Ser201Cys)
c.830C>G (p.Ser277Cys)
c.737C>G (p.Ser246Cys)
Xg.19355440C>TCA412394560PDHA1c.716C>T (p.Ser239Phe)
c.*387C>T (n.*387C>T)
c.779C>T (p.Ser260Phe)
c.809C>T (p.Ser270Phe)
n.490C>T
c.*27C>T (n.*27C>T)
c.*150C>T (n.*150C>T)
c.695C>T (p.Ser232Phe)
n.530C>T
n.123C>T
c.602C>T (p.Ser201Phe)
c.830C>T (p.Ser277Phe)
c.737C>T (p.Ser246Phe)
Xg.19355441T>ACA515486030PDHA1c.717T>A (p.Ser239=)
c.*388T>A (n.*388T>A)
c.780T>A (p.Ser260=)
c.810T>A (p.Ser270=)
n.491T>A
c.*28T>A (n.*28T>A)
c.*151T>A (n.*151T>A)
c.696T>A (p.Ser232=)
n.531T>A
n.124T>A
c.603T>A (p.Ser201=)
c.831T>A (p.Ser277=)
c.738T>A (p.Ser246=)
 ClinVar
Xg.19355441T>CCA10363079PDHA1c.717T>C (p.Ser239=)
c.*388T>C (n.*388T>C)
c.780T>C (p.Ser260=)
c.810T>C (p.Ser270=)
n.491T>C
c.*28T>C (n.*28T>C)
c.*151T>C (n.*151T>C)
c.696T>C (p.Ser232=)
n.531T>C
n.124T>C
c.603T>C (p.Ser201=)
c.831T>C (p.Ser277=)
c.738T>C (p.Ser246=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19355441T>GCA515486031PDHA1c.717T>G (p.Ser239=)
c.*388T>G (n.*388T>G)
c.780T>G (p.Ser260=)
c.810T>G (p.Ser270=)
n.491T>G
c.*28T>G (n.*28T>G)
c.*151T>G (n.*151T>G)
c.696T>G (p.Ser232=)
n.531T>G
n.124T>G
c.603T>G (p.Ser201=)
c.831T>G (p.Ser277=)
c.738T>G (p.Ser246=)
Xg.19355441T=CA2418223612PDHA1c.717T= (p.Ser239=)
c.*388T= (n.*388T=)
c.780T= (p.Ser260=)
c.810T= (p.Ser270=)
n.491T=
c.*28T= (n.*28T=)
c.*151T= (n.*151T=)
c.696T= (p.Ser232=)
n.531T=
n.124T=
c.603T= (p.Ser201=)
c.831T= (p.Ser277=)
c.738T= (p.Ser246=)
Xg.19355442G>ACA327027182PDHA1c.718G>A (p.Val240Ile)
c.*389G>A (n.*389G>A)
c.781G>A (p.Val261Ile)
c.811G>A (p.Val271Ile)
n.492G>A
c.*29G>A (n.*29G>A)
c.*152G>A (n.*152G>A)
c.697G>A (p.Val233Ile)
n.532G>A
n.125G>A
c.604G>A (p.Val202Ile)
c.832G>A (p.Val278Ile)
c.739G>A (p.Val247Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.19355442G>CCA412394561PDHA1c.718G>C (p.Val240Leu)
c.*389G>C (n.*389G>C)
c.781G>C (p.Val261Leu)
c.811G>C (p.Val271Leu)
n.492G>C
c.*29G>C (n.*29G>C)
c.*152G>C (n.*152G>C)
c.697G>C (p.Val233Leu)
n.532G>C
n.125G>C
c.604G>C (p.Val202Leu)
c.832G>C (p.Val278Leu)
c.739G>C (p.Val247Leu)
Xg.19355442G=CA2418223613PDHA1c.718G= (p.Val240=)
c.*389G= (n.*389G=)
c.781G= (p.Val261=)
c.811G= (p.Val271=)
n.492G=
c.*29G= (n.*29G=)
c.*152G= (n.*152G=)
c.697G= (p.Val233=)
n.532G=
n.125G=
c.604G= (p.Val202=)
c.832G= (p.Val278=)
c.739G= (p.Val247=)
Xg.19355442G>TCA412394562PDHA1c.718G>T (p.Val240Phe)
c.*389G>T (n.*389G>T)
c.781G>T (p.Val261Phe)
c.811G>T (p.Val271Phe)
n.492G>T
c.*29G>T (n.*29G>T)
c.*152G>T (n.*152G>T)
c.697G>T (p.Val233Phe)
n.532G>T
n.125G>T
c.604G>T (p.Val202Phe)
c.832G>T (p.Val278Phe)
c.739G>T (p.Val247Phe)
Xg.19355443T>ACA412394563PDHA1c.719T>A (p.Val240Asp)
c.*390T>A (n.*390T>A)
c.782T>A (p.Val261Asp)
c.812T>A (p.Val271Asp)
n.493T>A
c.*30T>A (n.*30T>A)
c.*153T>A (n.*153T>A)
c.698T>A (p.Val233Asp)
n.533T>A
n.126T>A
c.605T>A (p.Val202Asp)
c.833T>A (p.Val278Asp)
c.740T>A (p.Val247Asp)
Xg.19355443T>CCA412394564PDHA1c.719T>C (p.Val240Ala)
c.*390T>C (n.*390T>C)
c.782T>C (p.Val261Ala)
c.812T>C (p.Val271Ala)
n.493T>C
c.*30T>C (n.*30T>C)
c.*153T>C (n.*153T>C)
c.698T>C (p.Val233Ala)
n.533T>C
n.126T>C
c.605T>C (p.Val202Ala)
c.833T>C (p.Val278Ala)
c.740T>C (p.Val247Ala)
 dbSNP
Xg.19355443T>GCA412394565PDHA1c.719T>G (p.Val240Gly)
c.*390T>G (n.*390T>G)
c.782T>G (p.Val261Gly)
c.812T>G (p.Val271Gly)
n.493T>G
c.*30T>G (n.*30T>G)
c.*153T>G (n.*153T>G)
c.698T>G (p.Val233Gly)
n.533T>G
n.126T>G
c.605T>G (p.Val202Gly)
c.833T>G (p.Val278Gly)
c.740T>G (p.Val247Gly)
Xg.19355443T=CA2418223614PDHA1c.719T= (p.Val240=)
c.*390T= (n.*390T=)
c.782T= (p.Val261=)
c.812T= (p.Val271=)
n.493T=
c.*30T= (n.*30T=)
c.*153T= (n.*153T=)
c.698T= (p.Val233=)
n.533T=
n.126T=
c.605T= (p.Val202=)
c.833T= (p.Val278=)
c.740T= (p.Val247=)
Xg.19355444T>ACA515486034PDHA1c.720T>A (p.Val240=)
c.*391T>A (n.*391T>A)
c.783T>A (p.Val261=)
c.813T>A (p.Val271=)
n.494T>A
c.*31T>A (n.*31T>A)
c.*154T>A (n.*154T>A)
c.699T>A (p.Val233=)
n.534T>A
n.127T>A
c.606T>A (p.Val202=)
c.834T>A (p.Val278=)
c.741T>A (p.Val247=)
Xg.19355444T>CCA515486033PDHA1c.720T>C (p.Val240=)
c.*391T>C (n.*391T>C)
c.783T>C (p.Val261=)
c.813T>C (p.Val271=)
n.494T>C
c.*31T>C (n.*31T>C)
c.*154T>C (n.*154T>C)
c.699T>C (p.Val233=)
n.534T>C
n.127T>C
c.606T>C (p.Val202=)
c.834T>C (p.Val278=)
c.741T>C (p.Val247=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.19355444T>GCA515486032PDHA1c.720T>G (p.Val240=)
c.*391T>G (n.*391T>G)
c.783T>G (p.Val261=)
c.813T>G (p.Val271=)
n.494T>G
c.*31T>G (n.*31T>G)
c.*154T>G (n.*154T>G)
c.699T>G (p.Val233=)
n.534T>G
n.127T>G
c.606T>G (p.Val202=)
c.834T>G (p.Val278=)
c.741T>G (p.Val247=)
Xg.19355444T=CA2418223615PDHA1c.720T= (p.Val240=)
c.*391T= (n.*391T=)
c.783T= (p.Val261=)
c.813T= (p.Val271=)
n.494T=
c.*31T= (n.*31T=)
c.*154T= (n.*154T=)
c.699T= (p.Val233=)
n.534T=
n.127T=
c.606T= (p.Val202=)
c.834T= (p.Val278=)
c.741T= (p.Val247=)
Xg.19355445G>ACA412394568PDHA1c.721G>A (p.Glu241Lys)
c.*392G>A (n.*392G>A)
c.784G>A (p.Glu262Lys)
c.814G>A (p.Glu272Lys)
n.495G>A
c.*32G>A (n.*32G>A)
c.*155G>A (n.*155G>A)
c.700G>A (p.Glu234Lys)
n.535G>A
n.128G>A
c.607G>A (p.Glu203Lys)
c.835G>A (p.Glu279Lys)
c.742G>A (p.Glu248Lys)
Xg.19355445G>CCA412394566PDHA1c.721G>C (p.Glu241Gln)
c.*392G>C (n.*392G>C)
c.784G>C (p.Glu262Gln)
c.814G>C (p.Glu272Gln)
n.495G>C
c.*32G>C (n.*32G>C)
c.*155G>C (n.*155G>C)
c.700G>C (p.Glu234Gln)
n.535G>C
n.128G>C
c.607G>C (p.Glu203Gln)
c.835G>C (p.Glu279Gln)
c.742G>C (p.Glu248Gln)
 gnomAD v4
Xg.19355445G>TCA412394567PDHA1c.721G>T (p.Glu241Ter)
c.*392G>T (n.*392G>T)
c.784G>T (p.Glu262Ter)
c.814G>T (p.Glu272Ter)
n.495G>T
c.*32G>T (n.*32G>T)
c.*155G>T (n.*155G>T)
c.700G>T (p.Glu234Ter)
n.535G>T
n.128G>T
c.607G>T (p.Glu203Ter)
c.835G>T (p.Glu279Ter)
c.742G>T (p.Glu248Ter)
Xg.19355450_19355451delCA2695231645PDHA1c.726_727del (p.Arg242SerfsTer6)
c.*397_*398del (n.*397_*398del)
c.789_790del (p.Arg263SerfsTer6)
c.819_820del (p.Arg273SerfsTer6)
n.500_501del
c.*37_*38del (n.*37_*38del)
c.*160_*161del (n.*160_*161del)
c.705_706del (p.Arg235SerfsTer6)
n.133_134del
c.612_613del (p.Arg204SerfsTer6)
c.840_841del (p.Arg280SerfsTer6)
c.747_748del (p.Arg249SerfsTer6)
Xg.19355446A>CCA412394569PDHA1c.722A>C (p.Glu241Ala)
c.*393A>C (n.*393A>C)
c.785A>C (p.Glu262Ala)
c.815A>C (p.Glu272Ala)
n.496A>C
c.*33A>C (n.*33A>C)
c.*156A>C (n.*156A>C)
c.701A>C (p.Glu234Ala)
n.129A>C
c.608A>C (p.Glu203Ala)
c.836A>C (p.Glu279Ala)
c.743A>C (p.Glu248Ala)
Xg.19355446A>GCA412394570PDHA1c.722A>G (p.Glu241Gly)
c.*393A>G (n.*393A>G)
c.785A>G (p.Glu262Gly)
c.815A>G (p.Glu272Gly)
n.496A>G
c.*33A>G (n.*33A>G)
c.*156A>G (n.*156A>G)
c.701A>G (p.Glu234Gly)
n.129A>G
c.608A>G (p.Glu203Gly)
c.836A>G (p.Glu279Gly)
c.743A>G (p.Glu248Gly)
Xg.19355446A>TCA412394571PDHA1c.722A>T (p.Glu241Val)
c.*393A>T (n.*393A>T)
c.785A>T (p.Glu262Val)
c.815A>T (p.Glu272Val)
n.496A>T
c.*33A>T (n.*33A>T)
c.*156A>T (n.*156A>T)
c.701A>T (p.Glu234Val)
n.129A>T
c.608A>T (p.Glu203Val)
c.836A>T (p.Glu279Val)
c.743A>T (p.Glu248Val)
Xg.19355447G>ACA515486035PDHA1c.723G>A (p.Glu241=)
c.*394G>A (n.*394G>A)
c.786G>A (p.Glu262=)
c.816G>A (p.Glu272=)
n.497G>A
c.*34G>A (n.*34G>A)
c.*157G>A (n.*157G>A)
c.702G>A (p.Glu234=)
n.130G>A
c.609G>A (p.Glu203=)
c.837G>A (p.Glu279=)
c.744G>A (p.Glu248=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.19355447G>CCA412394572PDHA1c.723G>C (p.Glu241Asp)
c.*394G>C (n.*394G>C)
c.786G>C (p.Glu262Asp)
c.816G>C (p.Glu272Asp)
n.497G>C
c.*34G>C (n.*34G>C)
c.*157G>C (n.*157G>C)
c.702G>C (p.Glu234Asp)
n.130G>C
c.609G>C (p.Glu203Asp)
c.837G>C (p.Glu279Asp)
c.744G>C (p.Glu248Asp)
Xg.19355447G=CA2418223616PDHA1c.723G= (p.Glu241=)
c.*394G= (n.*394G=)
c.786G= (p.Glu262=)
c.816G= (p.Glu272=)
n.497G=
c.*34G= (n.*34G=)
c.*157G= (n.*157G=)
c.702G= (p.Glu234=)
n.130G=
c.609G= (p.Glu203=)
c.837G= (p.Glu279=)
c.744G= (p.Glu248=)
Xg.19355447G>TCA412394573PDHA1c.723G>T (p.Glu241Asp)
c.*394G>T (n.*394G>T)
c.786G>T (p.Glu262Asp)
c.816G>T (p.Glu272Asp)
n.497G>T
c.*34G>T (n.*34G>T)
c.*157G>T (n.*157G>T)
c.702G>T (p.Glu234Asp)
n.130G>T
c.609G>T (p.Glu203Asp)
c.837G>T (p.Glu279Asp)
c.744G>T (p.Glu248Asp)
Xg.19355448A>CCA515486036PDHA1c.724A>C (p.Arg242=)
c.*395A>C (n.*395A>C)
c.787A>C (p.Arg263=)
c.817A>C (p.Arg273=)
n.498A>C
c.*35A>C (n.*35A>C)
c.*158A>C (n.*158A>C)
c.703A>C (p.Arg235=)
n.131A>C
c.610A>C (p.Arg204=)
c.838A>C (p.Arg280=)
c.745A>C (p.Arg249=)
Xg.19355448A>GCA412394574PDHA1c.724A>G (p.Arg242Gly)
c.*395A>G (n.*395A>G)
c.787A>G (p.Arg263Gly)
c.817A>G (p.Arg273Gly)
n.498A>G
c.*35A>G (n.*35A>G)
c.*158A>G (n.*158A>G)
c.703A>G (p.Arg235Gly)
n.131A>G
c.610A>G (p.Arg204Gly)
c.838A>G (p.Arg280Gly)
c.745A>G (p.Arg249Gly)
Xg.19355448A>TCA412394575PDHA1c.724A>T (p.Arg242Ter)
c.*395A>T (n.*395A>T)
c.787A>T (p.Arg263Ter)
c.817A>T (p.Arg273Ter)
n.498A>T
c.*35A>T (n.*35A>T)
c.*158A>T (n.*158A>T)
c.703A>T (p.Arg235Ter)
n.131A>T
c.610A>T (p.Arg204Ter)
c.838A>T (p.Arg280Ter)
c.745A>T (p.Arg249Ter)
Xg.19355449G>ACA412394576PDHA1c.725G>A (p.Arg242Lys)
c.*396G>A (n.*396G>A)
c.788G>A (p.Arg263Lys)
c.818G>A (p.Arg273Lys)
n.499G>A
c.*36G>A (n.*36G>A)
c.*159G>A (n.*159G>A)
c.704G>A (p.Arg235Lys)
n.132G>A
c.611G>A (p.Arg204Lys)
c.839G>A (p.Arg280Lys)
c.746G>A (p.Arg249Lys)
Xg.19355449G>CCA412394577PDHA1c.725G>C (p.Arg242Thr)
c.*396G>C (n.*396G>C)
c.788G>C (p.Arg263Thr)
c.818G>C (p.Arg273Thr)
n.499G>C
c.*36G>C (n.*36G>C)
c.*159G>C (n.*159G>C)
c.704G>C (p.Arg235Thr)
n.132G>C
c.611G>C (p.Arg204Thr)
c.839G>C (p.Arg280Thr)
c.746G>C (p.Arg249Thr)
Xg.19355449G>TCA412394578PDHA1c.725G>T (p.Arg242Ile)
c.*396G>T (n.*396G>T)
c.788G>T (p.Arg263Ile)
c.818G>T (p.Arg273Ile)
n.499G>T
c.*36G>T (n.*36G>T)
c.*159G>T (n.*159G>T)
c.704G>T (p.Arg235Ile)
n.132G>T
c.611G>T (p.Arg204Ile)
c.839G>T (p.Arg280Ile)
c.746G>T (p.Arg249Ile)
Xg.19355450A>CCA412394579PDHA1c.726A>C (p.Arg242Ser)
c.*397A>C (n.*397A>C)
c.789A>C (p.Arg263Ser)
c.819A>C (p.Arg273Ser)
n.500A>C
c.*37A>C (n.*37A>C)
c.*160A>C (n.*160A>C)
c.705A>C (p.Arg235Ser)
n.133A>C
c.612A>C (p.Arg204Ser)
c.840A>C (p.Arg280Ser)
c.747A>C (p.Arg249Ser)
Xg.19355450A>GCA515486037PDHA1c.726A>G (p.Arg242=)
c.*397A>G (n.*397A>G)
c.789A>G (p.Arg263=)
c.819A>G (p.Arg273=)
n.500A>G
c.*37A>G (n.*37A>G)
c.*160A>G (n.*160A>G)
c.705A>G (p.Arg235=)
n.133A>G
c.612A>G (p.Arg204=)
c.840A>G (p.Arg280=)
c.747A>G (p.Arg249=)
Xg.19355450A>TCA412394580PDHA1c.726A>T (p.Arg242Ser)
c.*397A>T (n.*397A>T)
c.789A>T (p.Arg263Ser)
c.819A>T (p.Arg273Ser)
n.500A>T
c.*37A>T (n.*37A>T)
c.*160A>T (n.*160A>T)
c.705A>T (p.Arg235Ser)
n.133A>T
c.612A>T (p.Arg204Ser)
c.840A>T (p.Arg280Ser)
c.747A>T (p.Arg249Ser)
Xg.19355451G>ACA412394581PDHA1c.727G>A (p.Ala243Thr)
c.*398G>A (n.*398G>A)
c.790G>A (p.Ala264Thr)
c.820G>A (p.Ala274Thr)
n.501G>A
c.*38G>A (n.*38G>A)
c.*161G>A (n.*161G>A)
c.706G>A (p.Ala236Thr)
n.134G>A
c.613G>A (p.Ala205Thr)
c.841G>A (p.Ala281Thr)
c.748G>A (p.Ala250Thr)
Xg.19355451G>CCA412394583PDHA1c.727G>C (p.Ala243Pro)
c.*398G>C (n.*398G>C)
c.790G>C (p.Ala264Pro)
c.820G>C (p.Ala274Pro)
n.501G>C
c.*38G>C (n.*38G>C)
c.*161G>C (n.*161G>C)
c.706G>C (p.Ala236Pro)
n.134G>C
c.613G>C (p.Ala205Pro)
c.841G>C (p.Ala281Pro)
c.748G>C (p.Ala250Pro)
Xg.19355451G>TCA412394582PDHA1c.727G>T (p.Ala243Ser)
c.*398G>T (n.*398G>T)
c.790G>T (p.Ala264Ser)
c.820G>T (p.Ala274Ser)
n.501G>T
c.*38G>T (n.*38G>T)
c.*161G>T (n.*161G>T)
c.706G>T (p.Ala236Ser)
n.134G>T
c.613G>T (p.Ala205Ser)
c.841G>T (p.Ala281Ser)
c.748G>T (p.Ala250Ser)
Xg.19355452C>ACA321964PDHA1c.728C>A (p.Ala243Glu)
c.*399C>A (n.*399C>A)
c.791C>A (p.Ala264Glu)
c.821C>A (p.Ala274Glu)
n.502C>A
c.*39C>A (n.*39C>A)
c.*162C>A (n.*162C>A)
c.707C>A (p.Ala236Glu)
n.135C>A
c.614C>A (p.Ala205Glu)
c.842C>A (p.Ala281Glu)
c.749C>A (p.Ala250Glu)
 ClinVar dbSNP
Xg.19355452C=CA2418223617PDHA1c.728C= (p.Ala243=)
c.*399C= (n.*399C=)
c.791C= (p.Ala264=)
c.821C= (p.Ala274=)
n.502C=
c.*39C= (n.*39C=)
c.*162C= (n.*162C=)
c.707C= (p.Ala236=)
n.135C=
c.614C= (p.Ala205=)
c.842C= (p.Ala281=)
c.749C= (p.Ala250=)
Xg.19355452C>GCA412394584PDHA1c.728C>G (p.Ala243Gly)
c.*399C>G (n.*399C>G)
c.791C>G (p.Ala264Gly)
c.821C>G (p.Ala274Gly)
n.502C>G
c.*39C>G (n.*39C>G)
c.*162C>G (n.*162C>G)
c.707C>G (p.Ala236Gly)
n.135C>G
c.614C>G (p.Ala205Gly)
c.842C>G (p.Ala281Gly)
c.749C>G (p.Ala250Gly)
Xg.19355452C>TCA412394585PDHA1c.728C>T (p.Ala243Val)
c.*399C>T (n.*399C>T)
c.791C>T (p.Ala264Val)
c.821C>T (p.Ala274Val)
n.502C>T
c.*39C>T (n.*39C>T)
c.*162C>T (n.*162C>T)
c.707C>T (p.Ala236Val)
n.135C>T
c.614C>T (p.Ala205Val)
c.842C>T (p.Ala281Val)
c.749C>T (p.Ala250Val)
 ClinVar dbSNP
Xg.19355453G>ACA10363080PDHA1c.729G>A (p.Ala243=)
c.*400G>A (n.*400G>A)
c.792G>A (p.Ala264=)
c.822G>A (p.Ala274=)
n.503G>A
c.*40G>A (n.*40G>A)
c.*163G>A (n.*163G>A)
c.708G>A (p.Ala236=)
n.136G>A
c.615G>A (p.Ala205=)
c.843G>A (p.Ala281=)
c.750G>A (p.Ala250=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19355453G>CCA515486041PDHA1c.729G>C (p.Ala243=)
c.*400G>C (n.*400G>C)
c.792G>C (p.Ala264=)
c.822G>C (p.Ala274=)
n.503G>C
c.*40G>C (n.*40G>C)
c.*163G>C (n.*163G>C)
c.708G>C (p.Ala236=)
n.136G>C
c.615G>C (p.Ala205=)
c.843G>C (p.Ala281=)
c.750G>C (p.Ala250=)
 ClinVar dbSNP gnomAD v4
Xg.19355453G=CA2418223618PDHA1c.729G= (p.Ala243=)
c.*400G= (n.*400G=)
c.792G= (p.Ala264=)
c.822G= (p.Ala274=)
n.503G=
c.*40G= (n.*40G=)
c.*163G= (n.*163G=)
c.708G= (p.Ala236=)
n.136G=
c.615G= (p.Ala205=)
c.843G= (p.Ala281=)
c.750G= (p.Ala250=)
Xg.19355453G>TCA515486042PDHA1c.729G>T (p.Ala243=)
c.*400G>T (n.*400G>T)
c.792G>T (p.Ala264=)
c.822G>T (p.Ala274=)
n.503G>T
c.*40G>T (n.*40G>T)
c.*163G>T (n.*163G>T)
c.708G>T (p.Ala236=)
n.136G>T
c.615G>T (p.Ala205=)
c.843G>T (p.Ala281=)
c.750G>T (p.Ala250=)
 ClinVar dbSNP gnomAD v4
Xg.19355456_19355483dupCA915950753PDHA1c.732_759dup (p.Asp254SerfsTer4)
c.*403_*430dup (n.*403_*430dup)
c.795_822dup (p.Asp275SerfsTer4)
c.825_852dup (p.Asp285SerfsTer4)
n.506_533dup
c.*43_*70dup (n.*43_*70dup)
c.*166_*193dup (n.*166_*193dup)
c.711_738dup (p.Asp247SerfsTer4)
n.139_166dup
c.618_645dup (p.Asp216SerfsTer4)
c.846_873dup (p.Asp292SerfsTer4)
c.753_780dup (p.Asp261SerfsTer4)
 ClinVar dbSNP
Xg.19355454G>ACA412394586PDHA1c.730G>A (p.Ala244Thr)
c.*401G>A (n.*401G>A)
c.793G>A (p.Ala265Thr)
c.823G>A (p.Ala275Thr)
n.504G>A
c.*41G>A (n.*41G>A)
c.*164G>A (n.*164G>A)
c.709G>A (p.Ala237Thr)
n.137G>A
c.616G>A (p.Ala206Thr)
c.844G>A (p.Ala282Thr)
c.751G>A (p.Ala251Thr)
Xg.19355454G>CCA412394587PDHA1c.730G>C (p.Ala244Pro)
c.*401G>C (n.*401G>C)
c.793G>C (p.Ala265Pro)
c.823G>C (p.Ala275Pro)
n.504G>C
c.*41G>C (n.*41G>C)
c.*164G>C (n.*164G>C)
c.709G>C (p.Ala237Pro)
n.137G>C
c.616G>C (p.Ala206Pro)
c.844G>C (p.Ala282Pro)
c.751G>C (p.Ala251Pro)
 dbSNP gnomAD v2
Xg.19355454G=CA2418223619PDHA1c.730G= (p.Ala244=)
c.*401G= (n.*401G=)
c.793G= (p.Ala265=)
c.823G= (p.Ala275=)
n.504G=
c.*41G= (n.*41G=)
c.*164G= (n.*164G=)
c.709G= (p.Ala237=)
n.137G=
c.616G= (p.Ala206=)
c.844G= (p.Ala282=)
c.751G= (p.Ala251=)
Xg.19355454G>TCA412394588PDHA1c.730G>T (p.Ala244Ser)
c.*401G>T (n.*401G>T)
c.793G>T (p.Ala265Ser)
c.823G>T (p.Ala275Ser)
n.504G>T
c.*41G>T (n.*41G>T)
c.*164G>T (n.*164G>T)
c.709G>T (p.Ala237Ser)
n.137G>T
c.616G>T (p.Ala206Ser)
c.844G>T (p.Ala282Ser)
c.751G>T (p.Ala251Ser)
Xg.19355455C>ACA412394589PDHA1c.731C>A (p.Ala244Glu)
c.*402C>A (n.*402C>A)
c.794C>A (p.Ala265Glu)
c.824C>A (p.Ala275Glu)
n.505C>A
c.*42C>A (n.*42C>A)
c.*165C>A (n.*165C>A)
c.710C>A (p.Ala237Glu)
n.138C>A
c.617C>A (p.Ala206Glu)
c.845C>A (p.Ala282Glu)
c.752C>A (p.Ala251Glu)
Xg.19355455C>GCA412394590PDHA1c.731C>G (p.Ala244Gly)
c.*402C>G (n.*402C>G)
c.794C>G (p.Ala265Gly)
c.824C>G (p.Ala275Gly)
n.505C>G
c.*42C>G (n.*42C>G)
c.*165C>G (n.*165C>G)
c.710C>G (p.Ala237Gly)
n.138C>G
c.617C>G (p.Ala206Gly)
c.845C>G (p.Ala282Gly)
c.752C>G (p.Ala251Gly)
Xg.19355455C>TCA412394591PDHA1c.731C>T (p.Ala244Val)
c.*402C>T (n.*402C>T)
c.794C>T (p.Ala265Val)
c.824C>T (p.Ala275Val)
n.505C>T
c.*42C>T (n.*42C>T)
c.*165C>T (n.*165C>T)
c.710C>T (p.Ala237Val)
n.138C>T
c.617C>T (p.Ala206Val)
c.845C>T (p.Ala282Val)
c.752C>T (p.Ala251Val)
Xg.19355456A>CCA515486045PDHA1c.732A>C (p.Ala244=)
c.*403A>C (n.*403A>C)
c.795A>C (p.Ala265=)
c.825A>C (p.Ala275=)
n.506A>C
c.*43A>C (n.*43A>C)
c.*166A>C (n.*166A>C)
c.711A>C (p.Ala237=)
n.139A>C
c.618A>C (p.Ala206=)
c.846A>C (p.Ala282=)
c.753A>C (p.Ala251=)
Xg.19355456A>GCA515486043PDHA1c.732A>G (p.Ala244=)
c.*403A>G (n.*403A>G)
c.795A>G (p.Ala265=)
c.825A>G (p.Ala275=)
n.506A>G
c.*43A>G (n.*43A>G)
c.*166A>G (n.*166A>G)
c.711A>G (p.Ala237=)
n.139A>G
c.618A>G (p.Ala206=)
c.846A>G (p.Ala282=)
c.753A>G (p.Ala251=)
Xg.19355456A>TCA515486044PDHA1c.732A>T (p.Ala244=)
c.*403A>T (n.*403A>T)
c.795A>T (p.Ala265=)
c.825A>T (p.Ala275=)
n.506A>T
c.*43A>T (n.*43A>T)
c.*166A>T (n.*166A>T)
c.711A>T (p.Ala237=)
n.139A>T
c.618A>T (p.Ala206=)
c.846A>T (p.Ala282=)
c.753A>T (p.Ala251=)
Xg.19355457G>ACA412394592PDHA1c.733G>A (p.Ala245Thr)
c.*404G>A (n.*404G>A)
c.796G>A (p.Ala266Thr)
c.826G>A (p.Ala276Thr)
n.507G>A
c.*44G>A (n.*44G>A)
c.*167G>A (n.*167G>A)
c.712G>A (p.Ala238Thr)
n.140G>A
c.619G>A (p.Ala207Thr)
c.847G>A (p.Ala283Thr)
c.754G>A (p.Ala252Thr)
Xg.19355457G>CCA412394593PDHA1c.733G>C (p.Ala245Pro)
c.*404G>C (n.*404G>C)
c.796G>C (p.Ala266Pro)
c.826G>C (p.Ala276Pro)
n.507G>C
c.*44G>C (n.*44G>C)
c.*167G>C (n.*167G>C)
c.712G>C (p.Ala238Pro)
n.140G>C
c.619G>C (p.Ala207Pro)
c.847G>C (p.Ala283Pro)
c.754G>C (p.Ala252Pro)
Xg.19355457G>TCA412394594PDHA1c.733G>T (p.Ala245Ser)
c.*404G>T (n.*404G>T)
c.796G>T (p.Ala266Ser)
c.826G>T (p.Ala276Ser)
n.507G>T
c.*44G>T (n.*44G>T)
c.*167G>T (n.*167G>T)
c.712G>T (p.Ala238Ser)
n.140G>T
c.619G>T (p.Ala207Ser)
c.847G>T (p.Ala283Ser)
c.754G>T (p.Ala252Ser)
Xg.19355458C>ACA412394595PDHA1c.734C>A (p.Ala245Asp)
c.*405C>A (n.*405C>A)
c.797C>A (p.Ala266Asp)
c.827C>A (p.Ala276Asp)
n.508C>A
c.*45C>A (n.*45C>A)
c.*168C>A (n.*168C>A)
c.713C>A (p.Ala238Asp)
n.141C>A
c.620C>A (p.Ala207Asp)
c.848C>A (p.Ala283Asp)
c.755C>A (p.Ala252Asp)
Xg.19355458C>GCA412394597PDHA1c.734C>G (p.Ala245Gly)
c.*405C>G (n.*405C>G)
c.797C>G (p.Ala266Gly)
c.827C>G (p.Ala276Gly)
n.508C>G
c.*45C>G (n.*45C>G)
c.*168C>G (n.*168C>G)
c.713C>G (p.Ala238Gly)
n.141C>G
c.620C>G (p.Ala207Gly)
c.848C>G (p.Ala283Gly)
c.755C>G (p.Ala252Gly)
Xg.19355458C>TCA412394596PDHA1c.734C>T (p.Ala245Val)
c.*405C>T (n.*405C>T)
c.797C>T (p.Ala266Val)
c.827C>T (p.Ala276Val)
n.508C>T
c.*45C>T (n.*45C>T)
c.*168C>T (n.*168C>T)
c.713C>T (p.Ala238Val)
n.141C>T
c.620C>T (p.Ala207Val)
c.848C>T (p.Ala283Val)
c.755C>T (p.Ala252Val)
 gnomAD v4
Xg.19355459C>ACA515486046PDHA1c.735C>A (p.Ala245=)
c.*406C>A (n.*406C>A)
c.798C>A (p.Ala266=)
c.828C>A (p.Ala276=)
n.509C>A
c.*46C>A (n.*46C>A)
c.*169C>A (n.*169C>A)
c.714C>A (p.Ala238=)
n.142C>A
c.621C>A (p.Ala207=)
c.849C>A (p.Ala283=)
c.756C>A (p.Ala252=)
Xg.19355459C>GCA515486047PDHA1c.735C>G (p.Ala245=)
c.*406C>G (n.*406C>G)
c.798C>G (p.Ala266=)
c.828C>G (p.Ala276=)
n.509C>G
c.*46C>G (n.*46C>G)
c.*169C>G (n.*169C>G)
c.714C>G (p.Ala238=)
n.142C>G
c.621C>G (p.Ala207=)
c.849C>G (p.Ala283=)
c.756C>G (p.Ala252=)
Xg.19355459C>TCA515486048PDHA1c.735C>T (p.Ala245=)
c.*406C>T (n.*406C>T)
c.798C>T (p.Ala266=)
c.828C>T (p.Ala276=)
n.509C>T
c.*46C>T (n.*46C>T)
c.*169C>T (n.*169C>T)
c.714C>T (p.Ala238=)
n.142C>T
c.621C>T (p.Ala207=)
c.849C>T (p.Ala283=)
c.756C>T (p.Ala252=)
Xg.19355460A>CCA412394598PDHA1c.736A>C (p.Ser246Arg)
c.*407A>C (n.*407A>C)
c.799A>C (p.Ser267Arg)
c.829A>C (p.Ser277Arg)
n.510A>C
c.*47A>C (n.*47A>C)
c.*170A>C (n.*170A>C)
c.715A>C (p.Ser239Arg)
n.143A>C
c.622A>C (p.Ser208Arg)
c.850A>C (p.Ser284Arg)
c.757A>C (p.Ser253Arg)
Xg.19355460A>GCA412394599PDHA1c.736A>G (p.Ser246Gly)
c.*407A>G (n.*407A>G)
c.799A>G (p.Ser267Gly)
c.829A>G (p.Ser277Gly)
n.510A>G
c.*47A>G (n.*47A>G)
c.*170A>G (n.*170A>G)
c.715A>G (p.Ser239Gly)
n.143A>G
c.622A>G (p.Ser208Gly)
c.850A>G (p.Ser284Gly)
c.757A>G (p.Ser253Gly)
Xg.19355460A>TCA412394600PDHA1c.736A>T (p.Ser246Cys)
c.*407A>T (n.*407A>T)
c.799A>T (p.Ser267Cys)
c.829A>T (p.Ser277Cys)
n.510A>T
c.*47A>T (n.*47A>T)
c.*170A>T (n.*170A>T)
c.715A>T (p.Ser239Cys)
n.143A>T
c.622A>T (p.Ser208Cys)
c.850A>T (p.Ser284Cys)
c.757A>T (p.Ser253Cys)
Xg.19355461G>ACA412394601PDHA1c.737G>A (p.Ser246Asn)
c.*408G>A (n.*408G>A)
c.800G>A (p.Ser267Asn)
c.830G>A (p.Ser277Asn)
n.511G>A
c.*48G>A (n.*48G>A)
c.*171G>A (n.*171G>A)
c.716G>A (p.Ser239Asn)
n.144G>A
c.623G>A (p.Ser208Asn)
c.851G>A (p.Ser284Asn)
c.758G>A (p.Ser253Asn)
Xg.19355461G>CCA412394602PDHA1c.737G>C (p.Ser246Thr)
c.*408G>C (n.*408G>C)
c.800G>C (p.Ser267Thr)
c.830G>C (p.Ser277Thr)
n.511G>C
c.*48G>C (n.*48G>C)
c.*171G>C (n.*171G>C)
c.716G>C (p.Ser239Thr)
n.144G>C
c.623G>C (p.Ser208Thr)
c.851G>C (p.Ser284Thr)
c.758G>C (p.Ser253Thr)
Xg.19355461G>TCA412394603PDHA1c.737G>T (p.Ser246Ile)
c.*408G>T (n.*408G>T)
c.800G>T (p.Ser267Ile)
c.830G>T (p.Ser277Ile)
n.511G>T
c.*48G>T (n.*48G>T)
c.*171G>T (n.*171G>T)
c.716G>T (p.Ser239Ile)
n.144G>T
c.623G>T (p.Ser208Ile)
c.851G>T (p.Ser284Ile)
c.758G>T (p.Ser253Ile)
Xg.19355462C>ACA412394604PDHA1c.738C>A (p.Ser246Arg)
c.*409C>A (n.*409C>A)
c.801C>A (p.Ser267Arg)
c.831C>A (p.Ser277Arg)
n.512C>A
c.*49C>A (n.*49C>A)
c.*172C>A (n.*172C>A)
c.717C>A (p.Ser239Arg)
n.145C>A
c.624C>A (p.Ser208Arg)
c.852C>A (p.Ser284Arg)
c.759C>A (p.Ser253Arg)
Xg.19355462C=CA2418223620PDHA1c.738C= (p.Ser246=)
c.*409C= (n.*409C=)
c.801C= (p.Ser267=)
c.831C= (p.Ser277=)
n.512C=
c.*49C= (n.*49C=)
c.*172C= (n.*172C=)
c.717C= (p.Ser239=)
n.145C=
c.624C= (p.Ser208=)
c.852C= (p.Ser284=)
c.759C= (p.Ser253=)
Xg.19355462C>GCA412394605PDHA1c.738C>G (p.Ser246Arg)
c.*409C>G (n.*409C>G)
c.801C>G (p.Ser267Arg)
c.831C>G (p.Ser277Arg)
n.512C>G
c.*49C>G (n.*49C>G)
c.*172C>G (n.*172C>G)
c.717C>G (p.Ser239Arg)
n.145C>G
c.624C>G (p.Ser208Arg)
c.852C>G (p.Ser284Arg)
c.759C>G (p.Ser253Arg)
Xg.19355462C>TCA10363081PDHA1c.738C>T (p.Ser246=)
c.*409C>T (n.*409C>T)
c.801C>T (p.Ser267=)
c.831C>T (p.Ser277=)
n.512C>T
c.*49C>T (n.*49C>T)
c.*172C>T (n.*172C>T)
c.717C>T (p.Ser239=)
n.145C>T
c.624C>T (p.Ser208=)
c.852C>T (p.Ser284=)
c.759C>T (p.Ser253=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19355463A>CCA412394608PDHA1c.739A>C (p.Thr247Pro)
c.*410A>C (n.*410A>C)
c.802A>C (p.Thr268Pro)
c.832A>C (p.Thr278Pro)
n.513A>C
c.*50A>C (n.*50A>C)
c.*173A>C (n.*173A>C)
c.718A>C (p.Thr240Pro)
n.146A>C
c.625A>C (p.Thr209Pro)
c.853A>C (p.Thr285Pro)
c.760A>C (p.Thr254Pro)
Xg.19355463A>GCA412394607PDHA1c.739A>G (p.Thr247Ala)
c.*410A>G (n.*410A>G)
c.802A>G (p.Thr268Ala)
c.832A>G (p.Thr278Ala)
n.513A>G
c.*50A>G (n.*50A>G)
c.*173A>G (n.*173A>G)
c.718A>G (p.Thr240Ala)
n.146A>G
c.625A>G (p.Thr209Ala)
c.853A>G (p.Thr285Ala)
c.760A>G (p.Thr254Ala)
 gnomAD v4
Xg.19355463A>TCA412394606PDHA1c.739A>T (p.Thr247Ser)
c.*410A>T (n.*410A>T)
c.802A>T (p.Thr268Ser)
c.832A>T (p.Thr278Ser)
n.513A>T
c.*50A>T (n.*50A>T)
c.*173A>T (n.*173A>T)
c.718A>T (p.Thr240Ser)
n.146A>T
c.625A>T (p.Thr209Ser)
c.853A>T (p.Thr285Ser)
c.760A>T (p.Thr254Ser)
Xg.19355464C>ACA412394609PDHA1c.740C>A (p.Thr247Asn)
c.*411C>A (n.*411C>A)
c.803C>A (p.Thr268Asn)
c.833C>A (p.Thr278Asn)
n.514C>A
c.*51C>A (n.*51C>A)
c.*174C>A (n.*174C>A)
c.719C>A (p.Thr240Asn)
n.147C>A
c.626C>A (p.Thr209Asn)
c.854C>A (p.Thr285Asn)
c.761C>A (p.Thr254Asn)
Xg.19355464C=CA2418223621PDHA1c.740C= (p.Thr247=)
c.*411C= (n.*411C=)
c.803C= (p.Thr268=)
c.833C= (p.Thr278=)
n.514C=
c.*51C= (n.*51C=)
c.*174C= (n.*174C=)
c.719C= (p.Thr240=)
n.147C=
c.626C= (p.Thr209=)
c.854C= (p.Thr285=)
c.761C= (p.Thr254=)
Xg.19355464C>GCA412394610PDHA1c.740C>G (p.Thr247Ser)
c.*411C>G (n.*411C>G)
c.803C>G (p.Thr268Ser)
c.833C>G (p.Thr278Ser)
n.514C>G
c.*51C>G (n.*51C>G)
c.*174C>G (n.*174C>G)
c.719C>G (p.Thr240Ser)
n.147C>G
c.626C>G (p.Thr209Ser)
c.854C>G (p.Thr285Ser)
c.761C>G (p.Thr254Ser)
Xg.19355464C>TCA412394611PDHA1c.740C>T (p.Thr247Ile)
c.*411C>T (n.*411C>T)
c.803C>T (p.Thr268Ile)
c.833C>T (p.Thr278Ile)
n.514C>T
c.*51C>T (n.*51C>T)
c.*174C>T (n.*174C>T)
c.719C>T (p.Thr240Ile)
n.147C>T
c.626C>T (p.Thr209Ile)
c.854C>T (p.Thr285Ile)
c.761C>T (p.Thr254Ile)
Xg.19355465T>ACA515486049PDHA1c.741T>A (p.Thr247=)
c.*412T>A (n.*412T>A)
c.804T>A (p.Thr268=)
c.834T>A (p.Thr278=)
n.515T>A
c.*52T>A (n.*52T>A)
c.*175T>A (n.*175T>A)
c.720T>A (p.Thr240=)
n.148T>A
c.627T>A (p.Thr209=)
c.855T>A (p.Thr285=)
c.762T>A (p.Thr254=)
Xg.19355465T>CCA515486050PDHA1c.741T>C (p.Thr247=)
c.*412T>C (n.*412T>C)
c.804T>C (p.Thr268=)
c.834T>C (p.Thr278=)
n.515T>C
c.*52T>C (n.*52T>C)
c.*175T>C (n.*175T>C)
c.720T>C (p.Thr240=)
n.148T>C
c.627T>C (p.Thr209=)
c.855T>C (p.Thr285=)
c.762T>C (p.Thr254=)
 gnomAD v4
Xg.19355465T>GCA515486051PDHA1c.741T>G (p.Thr247=)
c.*412T>G (n.*412T>G)
c.804T>G (p.Thr268=)
c.834T>G (p.Thr278=)
n.515T>G
c.*52T>G (n.*52T>G)
c.*175T>G (n.*175T>G)
c.720T>G (p.Thr240=)
n.148T>G
c.627T>G (p.Thr209=)
c.855T>G (p.Thr285=)
c.762T>G (p.Thr254=)
Xg.19355466_19355469dupCA1139667325PDHA1c.742_745dup (p.Tyr249Ter)
c.*413_*416dup (n.*413_*416dup)
c.805_808dup (p.Tyr270Ter)
c.835_838dup (p.Tyr280Ter)
n.516_519dup
c.*53_*56dup (n.*53_*56dup)
c.*176_*179dup (n.*176_*179dup)
c.721_724dup (p.Tyr242Ter)
n.149_152dup
c.628_631dup (p.Tyr211Ter)
c.856_859dup (p.Tyr287Ter)
c.763_766dup (p.Tyr256Ter)
 ClinVar dbSNP
Xg.19355466G>ACA412394612PDHA1c.742G>A (p.Asp248Asn)
c.*413G>A (n.*413G>A)
c.805G>A (p.Asp269Asn)
c.835G>A (p.Asp279Asn)
n.516G>A
c.*53G>A (n.*53G>A)
c.*176G>A (n.*176G>A)
c.721G>A (p.Asp241Asn)
n.149G>A
c.628G>A (p.Asp210Asn)
c.856G>A (p.Asp286Asn)
c.763G>A (p.Asp255Asn)
Xg.19355466G>CCA412394613PDHA1c.742G>C (p.Asp248His)
c.*413G>C (n.*413G>C)
c.805G>C (p.Asp269His)
c.835G>C (p.Asp279His)
n.516G>C
c.*53G>C (n.*53G>C)
c.*176G>C (n.*176G>C)
c.721G>C (p.Asp241His)
n.149G>C
c.628G>C (p.Asp210His)
c.856G>C (p.Asp286His)
c.763G>C (p.Asp255His)
Xg.19355466G>TCA412394614PDHA1c.742G>T (p.Asp248Tyr)
c.*413G>T (n.*413G>T)
c.805G>T (p.Asp269Tyr)
c.835G>T (p.Asp279Tyr)
n.516G>T
c.*53G>T (n.*53G>T)
c.*176G>T (n.*176G>T)
c.721G>T (p.Asp241Tyr)
n.149G>T
c.628G>T (p.Asp210Tyr)
c.856G>T (p.Asp286Tyr)
c.763G>T (p.Asp255Tyr)
Xg.19355467A=CA2418223622PDHA1c.743A= (p.Asp248=)
c.*414A= (n.*414A=)
c.806A= (p.Asp269=)
c.836A= (p.Asp279=)
n.517A=
c.*54A= (n.*54A=)
c.*177A= (n.*177A=)
c.722A= (p.Asp241=)
n.150A=
c.629A= (p.Asp210=)
c.857A= (p.Asp286=)
c.764A= (p.Asp255=)
Xg.19355467A>CCA412394617PDHA1c.743A>C (p.Asp248Ala)
c.*414A>C (n.*414A>C)
c.806A>C (p.Asp269Ala)
c.836A>C (p.Asp279Ala)
n.517A>C
c.*54A>C (n.*54A>C)
c.*177A>C (n.*177A>C)
c.722A>C (p.Asp241Ala)
n.150A>C
c.629A>C (p.Asp210Ala)
c.857A>C (p.Asp286Ala)
c.764A>C (p.Asp255Ala)
Xg.19355467A>GCA412394615PDHA1c.743A>G (p.Asp248Gly)
c.*414A>G (n.*414A>G)
c.806A>G (p.Asp269Gly)
c.836A>G (p.Asp279Gly)
n.517A>G
c.*54A>G (n.*54A>G)
c.*177A>G (n.*177A>G)
c.722A>G (p.Asp241Gly)
n.150A>G
c.629A>G (p.Asp210Gly)
c.857A>G (p.Asp286Gly)
c.764A>G (p.Asp255Gly)
Xg.19355467A>TCA412394616PDHA1c.743A>T (p.Asp248Val)
c.*414A>T (n.*414A>T)
c.806A>T (p.Asp269Val)
c.836A>T (p.Asp279Val)
n.517A>T
c.*54A>T (n.*54A>T)
c.*177A>T (n.*177A>T)
c.722A>T (p.Asp241Val)
n.150A>T
c.629A>T (p.Asp210Val)
c.857A>T (p.Asp286Val)
c.764A>T (p.Asp255Val)
Xg.19355468T>ACA412394618PDHA1c.744T>A (p.Asp248Glu)
c.*415T>A (n.*415T>A)
c.807T>A (p.Asp269Glu)
c.837T>A (p.Asp279Glu)
n.518T>A
c.*55T>A (n.*55T>A)
c.*178T>A (n.*178T>A)
c.723T>A (p.Asp241Glu)
n.151T>A
c.630T>A (p.Asp210Glu)
c.858T>A (p.Asp286Glu)
c.765T>A (p.Asp255Glu)
Xg.19355468T>CCA515486052PDHA1c.744T>C (p.Asp248=)
c.*415T>C (n.*415T>C)
c.807T>C (p.Asp269=)
c.837T>C (p.Asp279=)
n.518T>C
c.*55T>C (n.*55T>C)
c.*178T>C (n.*178T>C)
c.723T>C (p.Asp241=)
n.151T>C
c.630T>C (p.Asp210=)
c.858T>C (p.Asp286=)
c.765T>C (p.Asp255=)
Xg.19355468T>GCA412394619PDHA1c.744T>G (p.Asp248Glu)
c.*415T>G (n.*415T>G)
c.807T>G (p.Asp269Glu)
c.837T>G (p.Asp279Glu)
n.518T>G
c.*55T>G (n.*55T>G)
c.*178T>G (n.*178T>G)
c.723T>G (p.Asp241Glu)
n.151T>G
c.630T>G (p.Asp210Glu)
c.858T>G (p.Asp286Glu)
c.765T>G (p.Asp255Glu)
Xg.19355469_19355472dupCA915950754PDHA1c.745_748dup (p.Tyr250LeufsTer?)
c.*416_*419dup (n.*416_*419dup)
c.808_811dup (p.Tyr271LeufsTer?)
c.838_841dup (p.Tyr281LeufsTer?)
n.519_522dup
c.*56_*59dup (n.*56_*59dup)
c.*179_*182dup (n.*179_*182dup)
c.724_727dup (p.Tyr243LeufsTer?)
n.152_155dup
c.631_634dup (p.Tyr212LeufsTer?)
c.859_862dup (p.Tyr288LeufsTer?)
c.766_769dup (p.Tyr257LeufsTer?)
 ClinVar dbSNP
Xg.19355469T>ACA412394620PDHA1c.745T>A (p.Tyr249Asn)
c.*416T>A (n.*416T>A)
c.808T>A (p.Tyr270Asn)
c.838T>A (p.Tyr280Asn)
n.519T>A
c.*56T>A (n.*56T>A)
c.*179T>A (n.*179T>A)
c.724T>A (p.Tyr242Asn)
n.152T>A
c.631T>A (p.Tyr211Asn)
c.859T>A (p.Tyr287Asn)
c.766T>A (p.Tyr256Asn)
Xg.19355469T>CCA412394621PDHA1c.745T>C (p.Tyr249His)
c.*416T>C (n.*416T>C)
c.808T>C (p.Tyr270His)
c.838T>C (p.Tyr280His)
n.519T>C
c.*56T>C (n.*56T>C)
c.*179T>C (n.*179T>C)
c.724T>C (p.Tyr242His)
n.152T>C
c.631T>C (p.Tyr211His)
c.859T>C (p.Tyr287His)
c.766T>C (p.Tyr256His)
Xg.19355469T>GCA412394622PDHA1c.745T>G (p.Tyr249Asp)
c.*416T>G (n.*416T>G)
c.808T>G (p.Tyr270Asp)
c.838T>G (p.Tyr280Asp)
n.519T>G
c.*56T>G (n.*56T>G)
c.*179T>G (n.*179T>G)
c.724T>G (p.Tyr242Asp)
n.152T>G
c.631T>G (p.Tyr211Asp)
c.859T>G (p.Tyr287Asp)
c.766T>G (p.Tyr256Asp)
Xg.19355472_19355474delCA2695231646PDHA1c.748_750del (p.Tyr250del)
c.*419_*421del (n.*419_*421del)
c.811_813del (p.Tyr271del)
c.841_843del (p.Tyr281del)
n.522_524del
c.*59_*61del (n.*59_*61del)
c.*182_*184del (n.*182_*184del)
c.727_729del (p.Tyr243del)
n.155_157del
c.634_636del (p.Tyr212del)
c.862_864del (p.Tyr288del)
c.769_771del (p.Tyr257del)
Xg.19355470A>CCA412394625PDHA1c.746A>C (p.Tyr249Ser)
c.*417A>C (n.*417A>C)
c.809A>C (p.Tyr270Ser)
c.839A>C (p.Tyr280Ser)
n.520A>C
c.*57A>C (n.*57A>C)
c.*180A>C (n.*180A>C)
c.725A>C (p.Tyr242Ser)
n.153A>C
c.632A>C (p.Tyr211Ser)
c.860A>C (p.Tyr287Ser)
c.767A>C (p.Tyr256Ser)
Xg.19355470A>GCA412394623PDHA1c.746A>G (p.Tyr249Cys)
c.*417A>G (n.*417A>G)
c.809A>G (p.Tyr270Cys)
c.839A>G (p.Tyr280Cys)
n.520A>G
c.*57A>G (n.*57A>G)
c.*180A>G (n.*180A>G)
c.725A>G (p.Tyr242Cys)
n.153A>G
c.632A>G (p.Tyr211Cys)
c.860A>G (p.Tyr287Cys)
c.767A>G (p.Tyr256Cys)
Xg.19355470A>TCA412394624PDHA1c.746A>T (p.Tyr249Phe)
c.*417A>T (n.*417A>T)
c.809A>T (p.Tyr270Phe)
c.839A>T (p.Tyr280Phe)
n.520A>T
c.*57A>T (n.*57A>T)
c.*180A>T (n.*180A>T)
c.725A>T (p.Tyr242Phe)
n.153A>T
c.632A>T (p.Tyr211Phe)
c.860A>T (p.Tyr287Phe)
c.767A>T (p.Tyr256Phe)
Xg.19355471C>ACA412394626PDHA1c.747C>A (p.Tyr249Ter)
c.*418C>A (n.*418C>A)
c.810C>A (p.Tyr270Ter)
c.840C>A (p.Tyr280Ter)
n.521C>A
c.*58C>A (n.*58C>A)
c.*181C>A (n.*181C>A)
c.726C>A (p.Tyr242Ter)
n.154C>A
c.633C>A (p.Tyr211Ter)
c.861C>A (p.Tyr287Ter)
c.768C>A (p.Tyr256Ter)
Xg.19355471C>GCA412394627PDHA1c.747C>G (p.Tyr249Ter)
c.*418C>G (n.*418C>G)
c.810C>G (p.Tyr270Ter)
c.840C>G (p.Tyr280Ter)
n.521C>G
c.*58C>G (n.*58C>G)
c.*181C>G (n.*181C>G)
c.726C>G (p.Tyr242Ter)
n.154C>G
c.633C>G (p.Tyr211Ter)
c.861C>G (p.Tyr287Ter)
c.768C>G (p.Tyr256Ter)
Xg.19355471C>TCA515486053PDHA1c.747C>T (p.Tyr249=)
c.*418C>T (n.*418C>T)
c.810C>T (p.Tyr270=)
c.840C>T (p.Tyr280=)
n.521C>T
c.*58C>T (n.*58C>T)
c.*181C>T (n.*181C>T)
c.726C>T (p.Tyr242=)
n.154C>T
c.633C>T (p.Tyr211=)
c.861C>T (p.Tyr287=)
c.768C>T (p.Tyr256=)
Xg.19355472T>ACA121218PDHA1c.748T>A (p.Tyr250Asn)
c.*419T>A (n.*419T>A)
c.811T>A (p.Tyr271Asn)
c.841T>A (p.Tyr281Asn)
n.522T>A
c.*59T>A (n.*59T>A)
c.*182T>A (n.*182T>A)
c.727T>A (p.Tyr243Asn)
n.155T>A
c.634T>A (p.Tyr212Asn)
c.862T>A (p.Tyr288Asn)
c.769T>A (p.Tyr257Asn)
 ClinVar dbSNP
Xg.19355472T>CCA412394628PDHA1c.748T>C (p.Tyr250His)
c.*419T>C (n.*419T>C)
c.811T>C (p.Tyr271His)
c.841T>C (p.Tyr281His)
n.522T>C
c.*59T>C (n.*59T>C)
c.*182T>C (n.*182T>C)
c.727T>C (p.Tyr243His)
n.155T>C
c.634T>C (p.Tyr212His)
c.862T>C (p.Tyr288His)
c.769T>C (p.Tyr257His)
 COSMIC COSMIC COSMIC
Xg.19355472T>GCA412394629PDHA1c.748T>G (p.Tyr250Asp)
c.*419T>G (n.*419T>G)
c.811T>G (p.Tyr271Asp)
c.841T>G (p.Tyr281Asp)
n.522T>G
c.*59T>G (n.*59T>G)
c.*182T>G (n.*182T>G)
c.727T>G (p.Tyr243Asp)
n.155T>G
c.634T>G (p.Tyr212Asp)
c.862T>G (p.Tyr288Asp)
c.769T>G (p.Tyr257Asp)
Xg.19355472T=CA2418223623PDHA1c.748T= (p.Tyr250=)
c.*419T= (n.*419T=)
c.811T= (p.Tyr271=)
c.841T= (p.Tyr281=)
n.522T=
c.*59T= (n.*59T=)
c.*182T= (n.*182T=)
c.727T= (p.Tyr243=)
n.155T=
c.634T= (p.Tyr212=)
c.862T= (p.Tyr288=)
c.769T= (p.Tyr257=)

Number of alleles fetched