| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19355372C>A | CA412394336 | PDHA1 | c.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) | |
| X | g.19355372C= | CA2418223595 | PDHA1 | c.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=) | |
| X | g.19355372C>G | CA412394334 | PDHA1 | c.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) | |
| X | g.19355372C>T | CA515485994 | PDHA1 | c.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 |
| X | g.19355373A= | CA2418223596 | PDHA1 | c.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=) | |
| X | g.19355373A>C | CA412394338 | PDHA1 | c.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) | |
| X | g.19355373A>G | CA247055 | PDHA1 | c.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 |
| X | g.19355373A>T | CA412394341 | PDHA1 | c.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) | |
| X | g.19355374T>A | CA412394343 | PDHA1 | c.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) | |
| X | g.19355374T>C | CA412394345 | PDHA1 | c.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) | |
| X | g.19355374T>G | CA412394347 | PDHA1 | c.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) | |
| X | g.19355375G>A | CA412394348 | PDHA1 | c.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) | |
| X | g.19355375G>C | CA412394349 | PDHA1 | c.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) | |
| X | g.19355375G>T | CA412394351 | PDHA1 | c.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 |
| X | g.19355376G>A | CA412394353 | PDHA1 | c.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 |
| X | g.19355376G>C | CA412394355 | PDHA1 | c.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) | |
| X | g.19355376G>T | CA412394357 | PDHA1 | c.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) | |
| X | g.19355377C>A | CA412394361 | PDHA1 | c.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) | |
| X | g.19355377C>G | CA412394363 | PDHA1 | c.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) | |
| X | g.19355377C>T | CA412394359 | PDHA1 | c.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) | |
| X | g.19355378A>C | CA515485995 | PDHA1 | c.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=) | |
| X | g.19355378A>G | CA515485996 | PDHA1 | c.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=) | |
| X | g.19355378A>T | CA515485997 | PDHA1 | c.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=) | |
| X | g.19355379G>A | CA412394366 | PDHA1 | c.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) | |
| X | g.19355379G>C | CA412394368 | PDHA1 | c.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) | |
| X | g.19355379G>T | CA412394370 | PDHA1 | c.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 |
| X | g.19355380C>A | CA412394372 | PDHA1 | c.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) | |
| X | g.19355380C>G | CA412394374 | PDHA1 | c.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) | |
| X | g.19355380C>T | CA412394376 | PDHA1 | c.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) | |
| X | g.19355381T>A | CA515485998 | PDHA1 | c.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 |
| X | g.19355381T>C | CA515485999 | PDHA1 | c.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=) | |
| X | g.19355381T>G | CA515486000 | PDHA1 | c.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=) | |
| X | g.19355381T= | CA2418223597 | PDHA1 | c.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=) | |
| X | g.19355382T>A | CA412394378 | PDHA1 | c.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) | |
| X | g.19355382T>C | CA515486001 | PDHA1 | c.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=) | |
| X | g.19355382T>G | CA412394380 | PDHA1 | c.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) | |
| X | g.19355383T>A | CA412394383 | PDHA1 | c.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) | |
| X | g.19355383T>C | CA412394384 | PDHA1 | c.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) | |
| X | g.19355383T>G | CA412394385 | PDHA1 | c.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) | |
| X | g.19355384G>A | CA515486002 | PDHA1 | c.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 |
| X | g.19355384G>C | CA412394387 | PDHA1 | c.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) | |
| X | g.19355384G>T | CA412394389 | PDHA1 | c.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) | |
| X | g.19355385T>A | CA412394394 | PDHA1 | c.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) | |
| X | g.19355385T>C | CA10603797 | PDHA1 | c.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 |
| X | g.19355385T>G | CA412394391 | PDHA1 | c.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 |
| X | g.19355385T= | CA2418223598 | PDHA1 | c.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=) | |
| X | g.19355386G>A | CA412394397 | PDHA1 | c.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 |
| X | g.19355386G>C | CA412394398 | PDHA1 | c.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) | |
| X | g.19355386G>T | CA412394399 | PDHA1 | c.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) | |
| X | g.19355387G>A | CA412394400 | PDHA1 | c.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 |