Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.19357664A= | CA2418224609 | PDHA1 | c.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=) | |
X | g.19357664A>C | CA121220 | PDHA1 | c.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 |
X | g.19357664A>G | CA412395157 | PDHA1 | c.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) | |
X | g.19357664A>T | CA412395158 | PDHA1 | c.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) | |
X | g.19357665T>A | CA412395161 | PDHA1 | c.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) | |
X | g.19357665T>C | CA412395159 | PDHA1 | c.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) | |
X | g.19357665T>G | CA412395160 | PDHA1 | c.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) | |
X | g.19357666G>A | CA412395162 | PDHA1 | c.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) | |
X | g.19357666G>C | CA412395163 | PDHA1 | c.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) | |
X | g.19357666G>T | CA412395164 | PDHA1 | c.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) | |
X | g.19357667G>A | CA412395165 | PDHA1 | c.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) | |
X | g.19357667G>C | CA412395166 | PDHA1 | c.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) | |
X | g.19357667G>T | CA412395167 | PDHA1 | c.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) | |
X | g.19357668A>C | CA412395170 | PDHA1 | c.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) | |
X | g.19357668A>G | CA412395168 | PDHA1 | c.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) | |
X | g.19357668A>T | CA412395169 | PDHA1 | c.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) | |
X | g.19357669G>A | CA10363138 | PDHA1 | c.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 |
X | g.19357669G>C | CA412395171 | PDHA1 | c.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) | |
X | g.19357669G= | CA2418224610 | PDHA1 | c.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=) | |
X | g.19357669G>T | CA412395172 | PDHA1 | c.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) | |
X | g.19357670C>A | CA412395173 | PDHA1 | c.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) | |
X | g.19357670C>G | CA412395174 | PDHA1 | c.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) | |
X | g.19357670C>T | CA515486161 | PDHA1 | c.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 |
X | g.19357671T>A | CA412395177 | PDHA1 | c.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) | |
X | g.19357671T>C | CA412395175 | PDHA1 | c.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) | |
X | g.19357671T>G | CA412395176 | PDHA1 | c.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) | |
X | g.19357672G>A | CA515486163 | PDHA1 | c.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=) | |
X | g.19357672G>C | CA515486164 | PDHA1 | c.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=) | |
X | g.19357672G= | CA2418224611 | PDHA1 | c.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=) | |
X | g.19357672G>T | CA10363139 | PDHA1 | c.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 |
X | g.19357673_19357675del | CA2579566383 | PDHA1 | c.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) | |
X | g.19357673C>A | CA412395178 | PDHA1 | c.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) | |
X | g.19357673C>G | CA412395179 | PDHA1 | c.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) | |
X | g.19357673C>T | CA412395180 | PDHA1 | c.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) | |
X | g.19357674A= | CA2418224612 | PDHA1 | c.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=) | |
X | g.19357674A>C | CA412395181 | PDHA1 | c.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) | |
X | g.19357674A>G | CA322243 | PDHA1 | c.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 |
X | g.19357674A>T | CA412395182 | PDHA1 | c.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) | |
X | g.19357675G>A | CA515486167 | PDHA1 | c.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=) | |
X | g.19357675G>C | CA412395183 | PDHA1 | c.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) | |
X | g.19357675G= | CA2418224613 | PDHA1 | c.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=) | |
X | g.19357675G>T | CA412395184 | PDHA1 | c.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) | |
X | g.19357675_19357676insTTAC | CA658794195 | PDHA1 | c.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) | |
X | g.19357676A>C | CA412395185 | PDHA1 | c.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) | |
X | g.19357676A>G | CA412395186 | PDHA1 | c.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) | |
X | g.19357676A>T | CA412395187 | PDHA1 | c.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) | |
X | g.19357678_19357681dup | CA16043242 | PDHA1 | c.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 |
X | g.19357677C>A | CA412395188 | PDHA1 | c.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) | |
X | g.19357677C>G | CA412395189 | PDHA1 | c.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) | |
X | g.19357677C>T | CA412395190 | PDHA1 | c.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) |