Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.19357664A=CA2418224609PDHA1c.865A= (p.Met289=)
c.*536A= (n.*536A=)
c.928A= (p.Met310=)
c.958A= (p.Met320=)
n.639A=
c.*176A= (n.*176A=)
c.*299A= (n.*299A=)
c.844A= (p.Met282=)
c.1A= (p.Met1=)
n.283A=
n.272A=
c.751A= (p.Met251=)
c.979A= (p.Met327=)
c.886A= (p.Met296=)
Xg.19357664A>CCA121220PDHA1c.865A>C (p.Met289Leu)
c.*536A>C (n.*536A>C)
c.928A>C (p.Met310Leu)
c.958A>C (p.Met320Leu)
n.639A>C
c.*176A>C (n.*176A>C)
c.*299A>C (n.*299A>C)
c.844A>C (p.Met282Leu)
c.1A>C (p.Met1Leu)
n.283A>C
n.272A>C
c.751A>C (p.Met251Leu)
c.979A>C (p.Met327Leu)
c.886A>C (p.Met296Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.19357664A>GCA412395157PDHA1c.865A>G (p.Met289Val)
c.*536A>G (n.*536A>G)
c.928A>G (p.Met310Val)
c.958A>G (p.Met320Val)
n.639A>G
c.*176A>G (n.*176A>G)
c.*299A>G (n.*299A>G)
c.844A>G (p.Met282Val)
c.1A>G (p.Met1Val)
n.283A>G
n.272A>G
c.751A>G (p.Met251Val)
c.979A>G (p.Met327Val)
c.886A>G (p.Met296Val)
Xg.19357664A>TCA412395158PDHA1c.865A>T (p.Met289Leu)
c.*536A>T (n.*536A>T)
c.928A>T (p.Met310Leu)
c.958A>T (p.Met320Leu)
n.639A>T
c.*176A>T (n.*176A>T)
c.*299A>T (n.*299A>T)
c.844A>T (p.Met282Leu)
c.1A>T (p.Met1Leu)
n.283A>T
n.272A>T
c.751A>T (p.Met251Leu)
c.979A>T (p.Met327Leu)
c.886A>T (p.Met296Leu)
Xg.19357665T>ACA412395161PDHA1c.866T>A (p.Met289Lys)
c.*537T>A (n.*537T>A)
c.929T>A (p.Met310Lys)
c.959T>A (p.Met320Lys)
n.640T>A
c.*177T>A (n.*177T>A)
c.*300T>A (n.*300T>A)
c.845T>A (p.Met282Lys)
c.2T>A (p.Met1Lys)
n.284T>A
n.273T>A
c.752T>A (p.Met251Lys)
c.980T>A (p.Met327Lys)
c.887T>A (p.Met296Lys)
Xg.19357665T>CCA412395159PDHA1c.866T>C (p.Met289Thr)
c.*537T>C (n.*537T>C)
c.929T>C (p.Met310Thr)
c.959T>C (p.Met320Thr)
n.640T>C
c.*177T>C (n.*177T>C)
c.*300T>C (n.*300T>C)
c.845T>C (p.Met282Thr)
c.2T>C (p.Met1Thr)
n.284T>C
n.273T>C
c.752T>C (p.Met251Thr)
c.980T>C (p.Met327Thr)
c.887T>C (p.Met296Thr)
Xg.19357665T>GCA412395160PDHA1c.866T>G (p.Met289Arg)
c.*537T>G (n.*537T>G)
c.929T>G (p.Met310Arg)
c.959T>G (p.Met320Arg)
n.640T>G
c.*177T>G (n.*177T>G)
c.*300T>G (n.*300T>G)
c.845T>G (p.Met282Arg)
c.2T>G (p.Met1Arg)
n.284T>G
n.273T>G
c.752T>G (p.Met251Arg)
c.980T>G (p.Met327Arg)
c.887T>G (p.Met296Arg)
Xg.19357666G>ACA412395162PDHA1c.867G>A (p.Met289Ile)
c.*538G>A (n.*538G>A)
c.930G>A (p.Met310Ile)
c.960G>A (p.Met320Ile)
n.641G>A
c.*178G>A (n.*178G>A)
c.*301G>A (n.*301G>A)
c.846G>A (p.Met282Ile)
c.3G>A (p.Met1Ile)
n.285G>A
n.274G>A
c.753G>A (p.Met251Ile)
c.981G>A (p.Met327Ile)
c.888G>A (p.Met296Ile)
Xg.19357666G>CCA412395163PDHA1c.867G>C (p.Met289Ile)
c.*538G>C (n.*538G>C)
c.930G>C (p.Met310Ile)
c.960G>C (p.Met320Ile)
n.641G>C
c.*178G>C (n.*178G>C)
c.*301G>C (n.*301G>C)
c.846G>C (p.Met282Ile)
c.3G>C (p.Met1Ile)
n.285G>C
n.274G>C
c.753G>C (p.Met251Ile)
c.981G>C (p.Met327Ile)
c.888G>C (p.Met296Ile)
Xg.19357666G>TCA412395164PDHA1c.867G>T (p.Met289Ile)
c.*538G>T (n.*538G>T)
c.930G>T (p.Met310Ile)
c.960G>T (p.Met320Ile)
n.641G>T
c.*178G>T (n.*178G>T)
c.*301G>T (n.*301G>T)
c.846G>T (p.Met282Ile)
c.3G>T (p.Met1Ile)
n.285G>T
n.274G>T
c.753G>T (p.Met251Ile)
c.981G>T (p.Met327Ile)
c.888G>T (p.Met296Ile)
Xg.19357667G>ACA412395165PDHA1c.868G>A (p.Glu290Lys)
c.*539G>A (n.*539G>A)
c.931G>A (p.Glu311Lys)
c.961G>A (p.Glu321Lys)
n.642G>A
c.*179G>A (n.*179G>A)
c.*302G>A (n.*302G>A)
c.847G>A (p.Glu283Lys)
c.4G>A (p.Glu2Lys)
n.286G>A
n.275G>A
c.754G>A (p.Glu252Lys)
c.982G>A (p.Glu328Lys)
c.889G>A (p.Glu297Lys)
Xg.19357667G>CCA412395166PDHA1c.868G>C (p.Glu290Gln)
c.*539G>C (n.*539G>C)
c.931G>C (p.Glu311Gln)
c.961G>C (p.Glu321Gln)
n.642G>C
c.*179G>C (n.*179G>C)
c.*302G>C (n.*302G>C)
c.847G>C (p.Glu283Gln)
c.4G>C (p.Glu2Gln)
n.286G>C
n.275G>C
c.754G>C (p.Glu252Gln)
c.982G>C (p.Glu328Gln)
c.889G>C (p.Glu297Gln)
Xg.19357667G>TCA412395167PDHA1c.868G>T (p.Glu290Ter)
c.*539G>T (n.*539G>T)
c.931G>T (p.Glu311Ter)
c.961G>T (p.Glu321Ter)
n.642G>T
c.*179G>T (n.*179G>T)
c.*302G>T (n.*302G>T)
c.847G>T (p.Glu283Ter)
c.4G>T (p.Glu2Ter)
n.286G>T
n.275G>T
c.754G>T (p.Glu252Ter)
c.982G>T (p.Glu328Ter)
c.889G>T (p.Glu297Ter)
Xg.19357668A>CCA412395170PDHA1c.869A>C (p.Glu290Ala)
c.*540A>C (n.*540A>C)
c.932A>C (p.Glu311Ala)
c.962A>C (p.Glu321Ala)
n.643A>C
c.*180A>C (n.*180A>C)
c.*303A>C (n.*303A>C)
c.848A>C (p.Glu283Ala)
c.5A>C (p.Glu2Ala)
n.287A>C
n.276A>C
c.755A>C (p.Glu252Ala)
c.983A>C (p.Glu328Ala)
c.890A>C (p.Glu297Ala)
Xg.19357668A>GCA412395168PDHA1c.869A>G (p.Glu290Gly)
c.*540A>G (n.*540A>G)
c.932A>G (p.Glu311Gly)
c.962A>G (p.Glu321Gly)
n.643A>G
c.*180A>G (n.*180A>G)
c.*303A>G (n.*303A>G)
c.848A>G (p.Glu283Gly)
c.5A>G (p.Glu2Gly)
n.287A>G
n.276A>G
c.755A>G (p.Glu252Gly)
c.983A>G (p.Glu328Gly)
c.890A>G (p.Glu297Gly)
Xg.19357668A>TCA412395169PDHA1c.869A>T (p.Glu290Val)
c.*540A>T (n.*540A>T)
c.932A>T (p.Glu311Val)
c.962A>T (p.Glu321Val)
n.643A>T
c.*180A>T (n.*180A>T)
c.*303A>T (n.*303A>T)
c.848A>T (p.Glu283Val)
c.5A>T (p.Glu2Val)
n.287A>T
n.276A>T
c.755A>T (p.Glu252Val)
c.983A>T (p.Glu328Val)
c.890A>T (p.Glu297Val)
Xg.19357669G>ACA10363138PDHA1c.870G>A (p.Glu290=)
c.*541G>A (n.*541G>A)
c.933G>A (p.Glu311=)
c.963G>A (p.Glu321=)
n.644G>A
c.*181G>A (n.*181G>A)
c.*304G>A (n.*304G>A)
c.849G>A (p.Glu283=)
c.6G>A (p.Glu2=)
n.288G>A
n.277G>A
c.756G>A (p.Glu252=)
c.984G>A (p.Glu328=)
c.891G>A (p.Glu297=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19357669G>CCA412395171PDHA1c.870G>C (p.Glu290Asp)
c.*541G>C (n.*541G>C)
c.933G>C (p.Glu311Asp)
c.963G>C (p.Glu321Asp)
n.644G>C
c.*181G>C (n.*181G>C)
c.*304G>C (n.*304G>C)
c.849G>C (p.Glu283Asp)
c.6G>C (p.Glu2Asp)
n.288G>C
n.277G>C
c.756G>C (p.Glu252Asp)
c.984G>C (p.Glu328Asp)
c.891G>C (p.Glu297Asp)
Xg.19357669G=CA2418224610PDHA1c.870G= (p.Glu290=)
c.*541G= (n.*541G=)
c.933G= (p.Glu311=)
c.963G= (p.Glu321=)
n.644G=
c.*181G= (n.*181G=)
c.*304G= (n.*304G=)
c.849G= (p.Glu283=)
c.6G= (p.Glu2=)
n.288G=
n.277G=
c.756G= (p.Glu252=)
c.984G= (p.Glu328=)
c.891G= (p.Glu297=)
Xg.19357669G>TCA412395172PDHA1c.870G>T (p.Glu290Asp)
c.*541G>T (n.*541G>T)
c.933G>T (p.Glu311Asp)
c.963G>T (p.Glu321Asp)
n.644G>T
c.*181G>T (n.*181G>T)
c.*304G>T (n.*304G>T)
c.849G>T (p.Glu283Asp)
c.6G>T (p.Glu2Asp)
n.288G>T
n.277G>T
c.756G>T (p.Glu252Asp)
c.984G>T (p.Glu328Asp)
c.891G>T (p.Glu297Asp)
Xg.19357670C>ACA412395173PDHA1c.871C>A (p.Leu291Met)
c.*542C>A (n.*542C>A)
c.934C>A (p.Leu312Met)
c.964C>A (p.Leu322Met)
n.645C>A
c.*182C>A (n.*182C>A)
c.*305C>A (n.*305C>A)
c.850C>A (p.Leu284Met)
c.7C>A (p.Leu3Met)
n.289C>A
n.278C>A
c.757C>A (p.Leu253Met)
c.985C>A (p.Leu329Met)
c.892C>A (p.Leu298Met)
Xg.19357670C>GCA412395174PDHA1c.871C>G (p.Leu291Val)
c.*542C>G (n.*542C>G)
c.934C>G (p.Leu312Val)
c.964C>G (p.Leu322Val)
n.645C>G
c.*182C>G (n.*182C>G)
c.*305C>G (n.*305C>G)
c.850C>G (p.Leu284Val)
c.7C>G (p.Leu3Val)
n.289C>G
n.278C>G
c.757C>G (p.Leu253Val)
c.985C>G (p.Leu329Val)
c.892C>G (p.Leu298Val)
Xg.19357670C>TCA515486161PDHA1c.871C>T (p.Leu291=)
c.*542C>T (n.*542C>T)
c.934C>T (p.Leu312=)
c.964C>T (p.Leu322=)
n.645C>T
c.*182C>T (n.*182C>T)
c.*305C>T (n.*305C>T)
c.850C>T (p.Leu284=)
c.7C>T (p.Leu3=)
n.289C>T
n.278C>T
c.757C>T (p.Leu253=)
c.985C>T (p.Leu329=)
c.892C>T (p.Leu298=)
gnomAD v3 gnomAD v4
Xg.19357671T>ACA412395177PDHA1c.872T>A (p.Leu291Gln)
c.*543T>A (n.*543T>A)
c.935T>A (p.Leu312Gln)
c.965T>A (p.Leu322Gln)
n.646T>A
c.*183T>A (n.*183T>A)
c.*306T>A (n.*306T>A)
c.851T>A (p.Leu284Gln)
c.8T>A (p.Leu3Gln)
n.290T>A
n.279T>A
c.758T>A (p.Leu253Gln)
c.986T>A (p.Leu329Gln)
c.893T>A (p.Leu298Gln)
Xg.19357671T>CCA412395175PDHA1c.872T>C (p.Leu291Pro)
c.*543T>C (n.*543T>C)
c.935T>C (p.Leu312Pro)
c.965T>C (p.Leu322Pro)
n.646T>C
c.*183T>C (n.*183T>C)
c.*306T>C (n.*306T>C)
c.851T>C (p.Leu284Pro)
c.8T>C (p.Leu3Pro)
n.290T>C
n.279T>C
c.758T>C (p.Leu253Pro)
c.986T>C (p.Leu329Pro)
c.893T>C (p.Leu298Pro)
Xg.19357671T>GCA412395176PDHA1c.872T>G (p.Leu291Arg)
c.*543T>G (n.*543T>G)
c.935T>G (p.Leu312Arg)
c.965T>G (p.Leu322Arg)
n.646T>G
c.*183T>G (n.*183T>G)
c.*306T>G (n.*306T>G)
c.851T>G (p.Leu284Arg)
c.8T>G (p.Leu3Arg)
n.290T>G
n.279T>G
c.758T>G (p.Leu253Arg)
c.986T>G (p.Leu329Arg)
c.893T>G (p.Leu298Arg)
Xg.19357672G>ACA515486163PDHA1c.873G>A (p.Leu291=)
c.*544G>A (n.*544G>A)
c.936G>A (p.Leu312=)
c.966G>A (p.Leu322=)
n.647G>A
c.*184G>A (n.*184G>A)
c.*307G>A (n.*307G>A)
c.852G>A (p.Leu284=)
c.9G>A (p.Leu3=)
n.291G>A
n.280G>A
c.759G>A (p.Leu253=)
c.987G>A (p.Leu329=)
c.894G>A (p.Leu298=)
Xg.19357672G>CCA515486164PDHA1c.873G>C (p.Leu291=)
c.*544G>C (n.*544G>C)
c.936G>C (p.Leu312=)
c.966G>C (p.Leu322=)
n.647G>C
c.*184G>C (n.*184G>C)
c.*307G>C (n.*307G>C)
c.852G>C (p.Leu284=)
c.9G>C (p.Leu3=)
n.291G>C
n.280G>C
c.759G>C (p.Leu253=)
c.987G>C (p.Leu329=)
c.894G>C (p.Leu298=)
Xg.19357672G=CA2418224611PDHA1c.873G= (p.Leu291=)
c.*544G= (n.*544G=)
c.936G= (p.Leu312=)
c.966G= (p.Leu322=)
n.647G=
c.*184G= (n.*184G=)
c.*307G= (n.*307G=)
c.852G= (p.Leu284=)
c.9G= (p.Leu3=)
n.291G=
n.280G=
c.759G= (p.Leu253=)
c.987G= (p.Leu329=)
c.894G= (p.Leu298=)
Xg.19357672G>TCA10363139PDHA1c.873G>T (p.Leu291=)
c.*544G>T (n.*544G>T)
c.936G>T (p.Leu312=)
c.966G>T (p.Leu322=)
n.647G>T
c.*184G>T (n.*184G>T)
c.*307G>T (n.*307G>T)
c.852G>T (p.Leu284=)
c.9G>T (p.Leu3=)
n.291G>T
n.280G>T
c.759G>T (p.Leu253=)
c.987G>T (p.Leu329=)
c.894G>T (p.Leu298=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19357673_19357675delCA2579566383PDHA1c.874_876del (p.Gln292del)
c.*545_*547del (n.*545_*547del)
c.937_939del (p.Gln313del)
c.967_969del (p.Gln323del)
n.648_650del
c.*185_*187del (n.*185_*187del)
c.*308_*310del (n.*308_*310del)
c.853_855del (p.Gln285del)
c.10_12del (p.Gln4del)
n.292_294del
n.281_283del
c.760_762del (p.Gln254del)
c.988_990del (p.Gln330del)
c.895_897del (p.Gln299del)
Xg.19357673C>ACA412395178PDHA1c.874C>A (p.Gln292Lys)
c.*545C>A (n.*545C>A)
c.937C>A (p.Gln313Lys)
c.967C>A (p.Gln323Lys)
n.648C>A
c.*185C>A (n.*185C>A)
c.*308C>A (n.*308C>A)
c.853C>A (p.Gln285Lys)
c.10C>A (p.Gln4Lys)
n.292C>A
n.281C>A
c.760C>A (p.Gln254Lys)
c.988C>A (p.Gln330Lys)
c.895C>A (p.Gln299Lys)
Xg.19357673C>GCA412395179PDHA1c.874C>G (p.Gln292Glu)
c.*545C>G (n.*545C>G)
c.937C>G (p.Gln313Glu)
c.967C>G (p.Gln323Glu)
n.648C>G
c.*185C>G (n.*185C>G)
c.*308C>G (n.*308C>G)
c.853C>G (p.Gln285Glu)
c.10C>G (p.Gln4Glu)
n.292C>G
n.281C>G
c.760C>G (p.Gln254Glu)
c.988C>G (p.Gln330Glu)
c.895C>G (p.Gln299Glu)
Xg.19357673C>TCA412395180PDHA1c.874C>T (p.Gln292Ter)
c.*545C>T (n.*545C>T)
c.937C>T (p.Gln313Ter)
c.967C>T (p.Gln323Ter)
n.648C>T
c.*185C>T (n.*185C>T)
c.*308C>T (n.*308C>T)
c.853C>T (p.Gln285Ter)
c.10C>T (p.Gln4Ter)
n.292C>T
n.281C>T
c.760C>T (p.Gln254Ter)
c.988C>T (p.Gln330Ter)
c.895C>T (p.Gln299Ter)
Xg.19357674A=CA2418224612PDHA1c.875A= (p.Gln292=)
c.*546A= (n.*546A=)
c.938A= (p.Gln313=)
c.968A= (p.Gln323=)
n.649A=
c.*186A= (n.*186A=)
c.*309A= (n.*309A=)
c.854A= (p.Gln285=)
c.11A= (p.Gln4=)
n.293A=
n.282A=
c.761A= (p.Gln254=)
c.989A= (p.Gln330=)
c.896A= (p.Gln299=)
Xg.19357674A>CCA412395181PDHA1c.875A>C (p.Gln292Pro)
c.*546A>C (n.*546A>C)
c.938A>C (p.Gln313Pro)
c.968A>C (p.Gln323Pro)
n.649A>C
c.*186A>C (n.*186A>C)
c.*309A>C (n.*309A>C)
c.854A>C (p.Gln285Pro)
c.11A>C (p.Gln4Pro)
n.293A>C
n.282A>C
c.761A>C (p.Gln254Pro)
c.989A>C (p.Gln330Pro)
c.896A>C (p.Gln299Pro)
Xg.19357674A>GCA322243PDHA1c.875A>G (p.Gln292Arg)
c.*546A>G (n.*546A>G)
c.938A>G (p.Gln313Arg)
c.968A>G (p.Gln323Arg)
n.649A>G
c.*186A>G (n.*186A>G)
c.*309A>G (n.*309A>G)
c.854A>G (p.Gln285Arg)
c.11A>G (p.Gln4Arg)
n.293A>G
n.282A>G
c.761A>G (p.Gln254Arg)
c.989A>G (p.Gln330Arg)
c.896A>G (p.Gln299Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.19357674A>TCA412395182PDHA1c.875A>T (p.Gln292Leu)
c.*546A>T (n.*546A>T)
c.938A>T (p.Gln313Leu)
c.968A>T (p.Gln323Leu)
n.649A>T
c.*186A>T (n.*186A>T)
c.*309A>T (n.*309A>T)
c.854A>T (p.Gln285Leu)
c.11A>T (p.Gln4Leu)
n.293A>T
n.282A>T
c.761A>T (p.Gln254Leu)
c.989A>T (p.Gln330Leu)
c.896A>T (p.Gln299Leu)
Xg.19357675G>ACA515486167PDHA1c.876G>A (p.Gln292=)
c.*547G>A (n.*547G>A)
c.939G>A (p.Gln313=)
c.969G>A (p.Gln323=)
n.650G>A
c.*187G>A (n.*187G>A)
c.*310G>A (n.*310G>A)
c.855G>A (p.Gln285=)
c.12G>A (p.Gln4=)
n.294G>A
n.283G>A
c.762G>A (p.Gln254=)
c.990G>A (p.Gln330=)
c.897G>A (p.Gln299=)
Xg.19357675G>CCA412395183PDHA1c.876G>C (p.Gln292His)
c.*547G>C (n.*547G>C)
c.939G>C (p.Gln313His)
c.969G>C (p.Gln323His)
n.650G>C
c.*187G>C (n.*187G>C)
c.*310G>C (n.*310G>C)
c.855G>C (p.Gln285His)
c.12G>C (p.Gln4His)
n.294G>C
n.283G>C
c.762G>C (p.Gln254His)
c.990G>C (p.Gln330His)
c.897G>C (p.Gln299His)
Xg.19357675G=CA2418224613PDHA1c.876G= (p.Gln292=)
c.*547G= (n.*547G=)
c.939G= (p.Gln313=)
c.969G= (p.Gln323=)
n.650G=
c.*187G= (n.*187G=)
c.*310G= (n.*310G=)
c.855G= (p.Gln285=)
c.12G= (p.Gln4=)
n.294G=
n.283G=
c.762G= (p.Gln254=)
c.990G= (p.Gln330=)
c.897G= (p.Gln299=)
Xg.19357675G>TCA412395184PDHA1c.876G>T (p.Gln292His)
c.*547G>T (n.*547G>T)
c.939G>T (p.Gln313His)
c.969G>T (p.Gln323His)
n.650G>T
c.*187G>T (n.*187G>T)
c.*310G>T (n.*310G>T)
c.855G>T (p.Gln285His)
c.12G>T (p.Gln4His)
n.294G>T
n.283G>T
c.762G>T (p.Gln254His)
c.990G>T (p.Gln330His)
c.897G>T (p.Gln299His)
Xg.19357675_19357676insTTACCA658794195PDHA1c.876_877insTTAC (p.Thr293LeufsTer12)
c.*547_*548insTTAC (n.*547_*548insTTAC)
c.939_940insTTAC (p.Thr314LeufsTer12)
c.969_970insTTAC (p.Thr324LeufsTer12)
n.650_651insTTAC
c.*187_*188insTTAC (n.*187_*188insTTAC)
c.*310_*311insTTAC (n.*310_*311insTTAC)
c.855_856insTTAC (p.Thr286LeufsTer12)
c.12_13insTTAC (p.Thr5LeufsTer12)
n.294_295insTTAC
n.283_284insTTAC
c.762_763insTTAC (p.Thr255LeufsTer12)
c.990_991insTTAC (p.Thr331LeufsTer12)
c.897_898insTTAC (p.Thr300LeufsTer12)
Xg.19357676A>CCA412395185PDHA1c.877A>C (p.Thr293Pro)
c.*548A>C (n.*548A>C)
c.940A>C (p.Thr314Pro)
c.970A>C (p.Thr324Pro)
n.651A>C
c.*188A>C (n.*188A>C)
c.*311A>C (n.*311A>C)
c.856A>C (p.Thr286Pro)
c.13A>C (p.Thr5Pro)
n.295A>C
n.284A>C
c.763A>C (p.Thr255Pro)
c.991A>C (p.Thr331Pro)
c.898A>C (p.Thr300Pro)
Xg.19357676A>GCA412395186PDHA1c.877A>G (p.Thr293Ala)
c.*548A>G (n.*548A>G)
c.940A>G (p.Thr314Ala)
c.970A>G (p.Thr324Ala)
n.651A>G
c.*188A>G (n.*188A>G)
c.*311A>G (n.*311A>G)
c.856A>G (p.Thr286Ala)
c.13A>G (p.Thr5Ala)
n.295A>G
n.284A>G
c.763A>G (p.Thr255Ala)
c.991A>G (p.Thr331Ala)
c.898A>G (p.Thr300Ala)
Xg.19357676A>TCA412395187PDHA1c.877A>T (p.Thr293Ser)
c.*548A>T (n.*548A>T)
c.940A>T (p.Thr314Ser)
c.970A>T (p.Thr324Ser)
n.651A>T
c.*188A>T (n.*188A>T)
c.*311A>T (n.*311A>T)
c.856A>T (p.Thr286Ser)
c.13A>T (p.Thr5Ser)
n.295A>T
n.284A>T
c.763A>T (p.Thr255Ser)
c.991A>T (p.Thr331Ser)
c.898A>T (p.Thr300Ser)
Xg.19357678_19357681dupCA16043242PDHA1c.879_882dup (p.Arg295LeufsTer10)
c.*550_*553dup (n.*550_*553dup)
c.942_945dup (p.Arg316LeufsTer10)
c.972_975dup (p.Arg326LeufsTer10)
n.653_656dup
c.*190_*193dup (n.*190_*193dup)
c.*313_*316dup (n.*313_*316dup)
c.858_861dup (p.Arg288LeufsTer10)
c.15_18dup (p.Arg7LeufsTer10)
n.297_300dup
n.286_289dup
c.765_768dup (p.Arg257LeufsTer10)
c.993_996dup (p.Arg333LeufsTer10)
c.900_903dup (p.Arg302LeufsTer10)
ClinVar dbSNP
Xg.19357677C>ACA412395188PDHA1c.878C>A (p.Thr293Asn)
c.*549C>A (n.*549C>A)
c.941C>A (p.Thr314Asn)
c.971C>A (p.Thr324Asn)
n.652C>A
c.*189C>A (n.*189C>A)
c.*312C>A (n.*312C>A)
c.857C>A (p.Thr286Asn)
c.14C>A (p.Thr5Asn)
n.296C>A
n.285C>A
c.764C>A (p.Thr255Asn)
c.992C>A (p.Thr331Asn)
c.899C>A (p.Thr300Asn)
Xg.19357677C>GCA412395189PDHA1c.878C>G (p.Thr293Ser)
c.*549C>G (n.*549C>G)
c.941C>G (p.Thr314Ser)
c.971C>G (p.Thr324Ser)
n.652C>G
c.*189C>G (n.*189C>G)
c.*312C>G (n.*312C>G)
c.857C>G (p.Thr286Ser)
c.14C>G (p.Thr5Ser)
n.296C>G
n.285C>G
c.764C>G (p.Thr255Ser)
c.992C>G (p.Thr331Ser)
c.899C>G (p.Thr300Ser)
Xg.19357677C>TCA412395190PDHA1c.878C>T (p.Thr293Ile)
c.*549C>T (n.*549C>T)
c.941C>T (p.Thr314Ile)
c.971C>T (p.Thr324Ile)
n.652C>T
c.*189C>T (n.*189C>T)
c.*312C>T (n.*312C>T)
c.857C>T (p.Thr286Ile)
c.14C>T (p.Thr5Ile)
n.296C>T
n.285C>T
c.764C>T (p.Thr255Ile)
c.992C>T (p.Thr331Ile)
c.899C>T (p.Thr300Ile)

Number of alleles fetched