Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.34966594_34966612delCA2574798238PDHXc.462-46_462-28del (n.462-46_462-28del)
c.642-46_642-28del (n.642-46_642-28del)
c.343-17976_343-17958del (n.343-17976_343-17958del)
c.597-46_597-28del (n.597-46_597-28del)
11g.34966597C>ACA1963501526PDHXc.462-43C>A (n.462-43C>A)
c.642-43C>A (n.642-43C>A)
c.343-17973C>A (n.343-17973C>A)
c.597-43C>A (n.597-43C>A)
 dbSNP gnomAD v4
11g.34966597C=CA1963501525PDHXc.462-43C= (n.462-43C=)
c.642-43C= (n.642-43C=)
c.343-17973C= (n.343-17973C=)
c.597-43C= (n.597-43C=)
11g.34966598C>ACA2613093448PDHXc.462-42C>A (n.462-42C>A)
c.642-42C>A (n.642-42C>A)
c.343-17972C>A (n.343-17972C>A)
c.597-42C>A (n.597-42C>A)
 gnomAD v4
11g.34966598C>TCA2574798239PDHXc.462-42C>T (n.462-42C>T)
c.642-42C>T (n.642-42C>T)
c.343-17972C>T (n.343-17972C>T)
c.597-42C>T (n.597-42C>T)
11g.34966600T>ACA2613093449PDHXc.462-40T>A (n.462-40T>A)
c.642-40T>A (n.642-40T>A)
c.343-17970T>A (n.343-17970T>A)
c.597-40T>A (n.597-40T>A)
 gnomAD v4
11g.34966601A=CA1963501528PDHXc.462-39A= (n.462-39A=)
c.642-39A= (n.642-39A=)
c.343-17969A= (n.343-17969A=)
c.597-39A= (n.597-39A=)
11g.34966601A>GCA220466319PDHXc.462-39A>G (n.462-39A>G)
c.642-39A>G (n.642-39A>G)
c.343-17969A>G (n.343-17969A>G)
c.597-39A>G (n.597-39A>G)
 dbSNP
11g.34966601A>TCA598464227PDHXc.462-39A>T (n.462-39A>T)
c.642-39A>T (n.642-39A>T)
c.343-17969A>T (n.343-17969A>T)
c.597-39A>T (n.597-39A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.34966602T>ACA2613093450PDHXc.462-38T>A (n.462-38T>A)
c.642-38T>A (n.642-38T>A)
c.343-17968T>A (n.343-17968T>A)
c.597-38T>A (n.597-38T>A)
 gnomAD v4
11g.34966603T>CCA2613093451PDHXc.462-37T>C (n.462-37T>C)
c.642-37T>C (n.642-37T>C)
c.343-17967T>C (n.343-17967T>C)
c.597-37T>C (n.597-37T>C)
 gnomAD v4
11g.34966604G>ACA2613093452PDHXc.462-36G>A (n.462-36G>A)
c.642-36G>A (n.642-36G>A)
c.343-17966G>A (n.343-17966G>A)
c.597-36G>A (n.597-36G>A)
 gnomAD v4
11g.34966604G>CCA220466322PDHXc.462-36G>C (n.462-36G>C)
c.642-36G>C (n.642-36G>C)
c.343-17966G>C (n.343-17966G>C)
c.597-36G>C (n.597-36G>C)
 dbSNP gnomAD v4
11g.34966604G=CA1963501533PDHXc.462-36G= (n.462-36G=)
c.642-36G= (n.642-36G=)
c.343-17966G= (n.343-17966G=)
c.597-36G= (n.597-36G=)
11g.34966605C=CA1963501535PDHXc.462-35C= (n.462-35C=)
c.642-35C= (n.642-35C=)
c.343-17965C= (n.343-17965C=)
c.597-35C= (n.597-35C=)
11g.34966605C>TCA5945950PDHXc.462-35C>T (n.462-35C>T)
c.642-35C>T (n.642-35C>T)
c.343-17965C>T (n.343-17965C>T)
c.597-35C>T (n.597-35C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966606T>GCA598464228PDHXc.462-34T>G (n.462-34T>G)
c.642-34T>G (n.642-34T>G)
c.343-17964T>G (n.343-17964T>G)
c.597-34T>G (n.597-34T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.34966606T=CA1963501539PDHXc.462-34T= (n.462-34T=)
c.642-34T= (n.642-34T=)
c.343-17964T= (n.343-17964T=)
c.597-34T= (n.597-34T=)
11g.34966607A=CA1963501544PDHXc.462-33A= (n.462-33A=)
c.642-33A= (n.642-33A=)
c.343-17963A= (n.343-17963A=)
c.597-33A= (n.597-33A=)
11g.34966607A>GCA5945951PDHXc.462-33A>G (n.462-33A>G)
c.642-33A>G (n.642-33A>G)
c.343-17963A>G (n.343-17963A>G)
c.597-33A>G (n.597-33A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966608A>CCA2613093453PDHXc.462-32A>C (n.462-32A>C)
c.642-32A>C (n.642-32A>C)
c.343-17962A>C (n.343-17962A>C)
c.597-32A>C (n.597-32A>C)
 gnomAD v4
11g.34966609T>CCA2613093454PDHXc.462-31T>C (n.462-31T>C)
c.642-31T>C (n.642-31T>C)
c.343-17961T>C (n.343-17961T>C)
c.597-31T>C (n.597-31T>C)
 gnomAD v4
11g.34966611A=CA1963501549PDHXc.462-29A= (n.462-29A=)
c.642-29A= (n.642-29A=)
c.343-17959A= (n.343-17959A=)
c.597-29A= (n.597-29A=)
11g.34966611A>GCA1963501550PDHXc.462-29A>G (n.462-29A>G)
c.642-29A>G (n.642-29A>G)
c.343-17959A>G (n.343-17959A>G)
c.597-29A>G (n.597-29A>G)
 dbSNP
11g.34966611A>TCA2613093455PDHXc.462-29A>T (n.462-29A>T)
c.642-29A>T (n.642-29A>T)
c.343-17959A>T (n.343-17959A>T)
c.597-29A>T (n.597-29A>T)
 gnomAD v4
11g.34966614G>ACA2613093456PDHXc.462-26G>A (n.462-26G>A)
c.642-26G>A (n.642-26G>A)
c.343-17956G>A (n.343-17956G>A)
c.597-26G>A (n.597-26G>A)
 gnomAD v4
11g.34966614G=CA1963501552PDHXc.462-26G= (n.462-26G=)
c.642-26G= (n.642-26G=)
c.343-17956G= (n.343-17956G=)
c.597-26G= (n.597-26G=)
11g.34966614G>TCA598464229PDHXc.462-26G>T (n.462-26G>T)
c.642-26G>T (n.642-26G>T)
c.343-17956G>T (n.343-17956G>T)
c.597-26G>T (n.597-26G>T)
 dbSNP gnomAD v2 gnomAD v4
11g.34966615T>CCA2613093457PDHXc.462-25T>C (n.462-25T>C)
c.642-25T>C (n.642-25T>C)
c.343-17955T>C (n.343-17955T>C)
c.597-25T>C (n.597-25T>C)
 gnomAD v4
11g.34966618T>GCA2613093458PDHXc.462-22T>G (n.462-22T>G)
c.642-22T>G (n.642-22T>G)
c.343-17952T>G (n.343-17952T>G)
c.597-22T>G (n.597-22T>G)
 gnomAD v4
11g.34966621A=CA1963501555PDHXc.462-19A= (n.462-19A=)
c.642-19A= (n.642-19A=)
c.343-17949A= (n.343-17949A=)
c.597-19A= (n.597-19A=)
11g.34966621A>GCA5945952PDHXc.462-19A>G (n.462-19A>G)
c.642-19A>G (n.642-19A>G)
c.343-17949A>G (n.343-17949A>G)
c.597-19A>G (n.597-19A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966621_34966622insGACA2613093459PDHXc.462-19_462-18insGA (n.462-19_462-18insGA)
c.642-19_642-18insGA (n.642-19_642-18insGA)
c.343-17949_343-17948insGA (n.343-17949_343-17948insGA)
c.597-19_597-18insGA (n.597-19_597-18insGA)
 gnomAD v4
11g.34966622C>TCA2613093460PDHXc.462-18C>T (n.462-18C>T)
c.642-18C>T (n.642-18C>T)
c.343-17948C>T (n.343-17948C>T)
c.597-18C>T (n.597-18C>T)
 gnomAD v4
11g.34966623T>CCA675872279PDHXc.462-17T>C (n.462-17T>C)
c.642-17T>C (n.642-17T>C)
c.343-17947T>C (n.343-17947T>C)
c.597-17T>C (n.597-17T>C)
 dbSNP gnomAD v3 gnomAD v4
11g.34966623T=CA1963501559PDHXc.462-17T= (n.462-17T=)
c.642-17T= (n.642-17T=)
c.343-17947T= (n.343-17947T=)
c.597-17T= (n.597-17T=)
11g.34966626G>CCA2613093461PDHXc.462-14G>C (n.462-14G>C)
c.642-14G>C (n.642-14G>C)
c.343-17944G>C (n.343-17944G>C)
c.597-14G>C (n.597-14G>C)
 gnomAD v4
11g.34966629C=CA1963501561PDHXc.462-11C= (n.462-11C=)
c.642-11C= (n.642-11C=)
c.343-17941C= (n.343-17941C=)
c.597-11C= (n.597-11C=)
11g.34966629C>GCA2574798240PDHXc.462-11C>G (n.462-11C>G)
c.642-11C>G (n.642-11C>G)
c.343-17941C>G (n.343-17941C>G)
c.597-11C>G (n.597-11C>G)
11g.34966629C>TCA598464230PDHXc.462-11C>T (n.462-11C>T)
c.642-11C>T (n.642-11C>T)
c.343-17941C>T (n.343-17941C>T)
c.597-11C>T (n.597-11C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.34966630_34966631insCACA2613093462PDHXc.462-10_462-9insCA (n.462-10_462-9insCA)
c.642-10_642-9insCA (n.642-10_642-9insCA)
c.343-17940_343-17939insCA (n.343-17940_343-17939insCA)
c.597-10_597-9insCA (n.597-10_597-9insCA)
 gnomAD v4
11g.34966631_34966632insTTCCAGGGATGCTCTCCA2613093463PDHXc.462-9_462-8insTTCCAGGGATGCTCTC (n.462-9_462-8insTTCCAGGGATGCTCTC)
c.642-9_642-8insTTCCAGGGATGCTCTC (n.642-9_642-8insTTCCAGGGATGCTCTC)
c.343-17939_343-17938insTTCCAGGGATGCTCTC (n.343-17939_343-17938insTTCCAGGGATGCTCTC)
c.597-9_597-8insTTCCAGGGATGCTCTC (n.597-9_597-8insTTCCAGGGATGCTCTC)
 gnomAD v4
11g.34966632A=CA1963501565PDHXc.462-8A= (n.462-8A=)
c.642-8A= (n.642-8A=)
c.343-17938A= (n.343-17938A=)
c.597-8A= (n.597-8A=)
11g.34966632A>GCA598464231PDHXc.462-8A>G (n.462-8A>G)
c.642-8A>G (n.642-8A>G)
c.343-17938A>G (n.343-17938A>G)
c.597-8A>G (n.597-8A>G)
 dbSNP gnomAD v2 gnomAD v4
11g.34966632A>TCA936797654PDHXc.462-8A>T (n.462-8A>T)
c.642-8A>T (n.642-8A>T)
c.343-17938A>T (n.343-17938A>T)
c.597-8A>T (n.597-8A>T)
 dbSNP gnomAD v3 gnomAD v4
11g.34966634T>GCA2537360265PDHXc.462-6T>G (n.462-6T>G)
c.642-6T>G (n.642-6T>G)
c.343-17936T>G (n.343-17936T>G)
c.597-6T>G (n.597-6T>G)
11g.34966636C>TCA2574798241PDHXc.462-4C>T (n.462-4C>T)
c.642-4C>T (n.642-4C>T)
c.343-17934C>T (n.343-17934C>T)
c.597-4C>T (n.597-4C>T)
 gnomAD v4
11g.34966638A>CCA380120475PDHXc.462-2A>C (n.462-2A>C)
c.642-2A>C (n.642-2A>C)
c.343-17932A>C (n.343-17932A>C)
c.597-2A>C (n.597-2A>C)
11g.34966638A>GCA380120476PDHXc.462-2A>G (n.462-2A>G)
c.642-2A>G (n.642-2A>G)
c.343-17932A>G (n.343-17932A>G)
c.597-2A>G (n.597-2A>G)
11g.34966638A>TCA380120477PDHXc.462-2A>T (n.462-2A>T)
c.642-2A>T (n.642-2A>T)
c.343-17932A>T (n.343-17932A>T)
c.597-2A>T (n.597-2A>T)
11g.34966639G>ACA380120480PDHXc.462-1G>A (n.462-1G>A)
c.642-1G>A (n.642-1G>A)
c.343-17931G>A (n.343-17931G>A)
c.597-1G>A (n.597-1G>A)
11g.34966639G>CCA380120478PDHXc.462-1G>C (n.462-1G>C)
c.642-1G>C (n.642-1G>C)
c.343-17931G>C (n.343-17931G>C)
c.597-1G>C (n.597-1G>C)
11g.34966639G>TCA380120479PDHXc.462-1G>T (n.462-1G>T)
c.642-1G>T (n.642-1G>T)
c.343-17931G>T (n.343-17931G>T)
c.597-1G>T (n.597-1G>T)
11g.34966640G>ACA473615351PDHXc.462G>A (p.Glu154=)
c.642G>A (p.Glu214=)
c.343-17930G>A (n.343-17930G>A)
c.597G>A (p.Glu199=)
11g.34966640G>CCA380120481PDHXc.462G>C (p.Glu154Asp)
c.642G>C (p.Glu214Asp)
c.343-17930G>C (n.343-17930G>C)
c.597G>C (p.Glu199Asp)
11g.34966640G>TCA380120482PDHXc.462G>T (p.Glu154Asp)
c.642G>T (p.Glu214Asp)
c.343-17930G>T (n.343-17930G>T)
c.597G>T (p.Glu199Asp)
11g.34966641G>ACA380120483PDHXc.463G>A (p.Asp155Asn)
c.643G>A (p.Asp215Asn)
c.343-17929G>A (n.343-17929G>A)
c.598G>A (p.Asp200Asn)
 dbSNP gnomAD v4
11g.34966641G>CCA380120484PDHXc.463G>C (p.Asp155His)
c.643G>C (p.Asp215His)
c.343-17929G>C (n.343-17929G>C)
c.598G>C (p.Asp200His)
11g.34966641G=CA1963501568PDHXc.463G= (p.Asp155=)
c.643G= (p.Asp215=)
c.343-17929G= (n.343-17929G=)
c.598G= (p.Asp200=)
11g.34966641G>TCA380120485PDHXc.463G>T (p.Asp155Tyr)
c.643G>T (p.Asp215Tyr)
c.343-17929G>T (n.343-17929G>T)
c.598G>T (p.Asp200Tyr)
11g.34966642A=CA1963501573PDHXc.464A= (p.Asp155=)
c.644A= (p.Asp215=)
c.343-17928A= (n.343-17928A=)
c.599A= (p.Asp200=)
11g.34966642A>CCA380120486PDHXc.464A>C (p.Asp155Ala)
c.644A>C (p.Asp215Ala)
c.343-17928A>C (n.343-17928A>C)
c.599A>C (p.Asp200Ala)
11g.34966642A>GCA324072PDHXc.464A>G (p.Asp155Gly)
c.644A>G (p.Asp215Gly)
c.343-17928A>G (n.343-17928A>G)
c.599A>G (p.Asp200Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.34966642A>TCA5945953PDHXc.464A>T (p.Asp155Val)
c.644A>T (p.Asp215Val)
c.343-17928A>T (n.343-17928A>T)
c.599A>T (p.Asp200Val)
 dbSNP ExAC gnomAD v2
11g.34966643T>ACA380120487PDHXc.465T>A (p.Asp155Glu)
c.645T>A (p.Asp215Glu)
c.343-17927T>A (n.343-17927T>A)
c.600T>A (p.Asp200Glu)
11g.34966643T>CCA473615355PDHXc.465T>C (p.Asp155=)
c.645T>C (p.Asp215=)
c.343-17927T>C (n.343-17927T>C)
c.600T>C (p.Asp200=)
11g.34966643T>GCA380120488PDHXc.465T>G (p.Asp155Glu)
c.645T>G (p.Asp215Glu)
c.343-17927T>G (n.343-17927T>G)
c.600T>G (p.Asp200Glu)
11g.34966644G>ACA380120489PDHXc.466G>A (p.Ala156Thr)
c.646G>A (p.Ala216Thr)
c.343-17926G>A (n.343-17926G>A)
c.601G>A (p.Ala201Thr)
11g.34966644G>CCA380120490PDHXc.466G>C (p.Ala156Pro)
c.646G>C (p.Ala216Pro)
c.343-17926G>C (n.343-17926G>C)
c.601G>C (p.Ala201Pro)
11g.34966644G>TCA380120491PDHXc.466G>T (p.Ala156Ser)
c.646G>T (p.Ala216Ser)
c.343-17926G>T (n.343-17926G>T)
c.601G>T (p.Ala201Ser)
 COSMIC
11g.34966645C>ACA380120492PDHXc.467C>A (p.Ala156Asp)
c.647C>A (p.Ala216Asp)
c.343-17925C>A (n.343-17925C>A)
c.602C>A (p.Ala201Asp)
11g.34966645C>GCA380120493PDHXc.467C>G (p.Ala156Gly)
c.647C>G (p.Ala216Gly)
c.343-17925C>G (n.343-17925C>G)
c.602C>G (p.Ala201Gly)
11g.34966645C>TCA380120494PDHXc.467C>T (p.Ala156Val)
c.647C>T (p.Ala216Val)
c.343-17925C>T (n.343-17925C>T)
c.602C>T (p.Ala201Val)
11g.34966646T>ACA473615357PDHXc.468T>A (p.Ala156=)
c.648T>A (p.Ala216=)
c.343-17924T>A (n.343-17924T>A)
c.603T>A (p.Ala201=)
11g.34966646T>CCA473615358PDHXc.468T>C (p.Ala156=)
c.648T>C (p.Ala216=)
c.343-17924T>C (n.343-17924T>C)
c.603T>C (p.Ala201=)
11g.34966646T>GCA473615359PDHXc.468T>G (p.Ala156=)
c.648T>G (p.Ala216=)
c.343-17924T>G (n.343-17924T>G)
c.603T>G (p.Ala201=)
11g.34966647C>ACA380120495PDHXc.469C>A (p.Leu157Ile)
c.649C>A (p.Leu217Ile)
c.343-17923C>A (n.343-17923C>A)
c.604C>A (p.Leu202Ile)
11g.34966647C>GCA380120496PDHXc.469C>G (p.Leu157Val)
c.649C>G (p.Leu217Val)
c.343-17923C>G (n.343-17923C>G)
c.604C>G (p.Leu202Val)
11g.34966647C>TCA380120497PDHXc.469C>T (p.Leu157Phe)
c.649C>T (p.Leu217Phe)
c.343-17923C>T (n.343-17923C>T)
c.604C>T (p.Leu202Phe)
 gnomAD v4
11g.34966648T>ACA380120500PDHXc.470T>A (p.Leu157His)
c.650T>A (p.Leu217His)
c.343-17922T>A (n.343-17922T>A)
c.605T>A (p.Leu202His)
11g.34966648T>CCA380120499PDHXc.470T>C (p.Leu157Pro)
c.650T>C (p.Leu217Pro)
c.343-17922T>C (n.343-17922T>C)
c.605T>C (p.Leu202Pro)
11g.34966648T>GCA380120498PDHXc.470T>G (p.Leu157Arg)
c.650T>G (p.Leu217Arg)
c.343-17922T>G (n.343-17922T>G)
c.605T>G (p.Leu202Arg)
11g.34966649C>ACA473615363PDHXc.471C>A (p.Leu157=)
c.651C>A (p.Leu217=)
c.343-17921C>A (n.343-17921C>A)
c.606C>A (p.Leu202=)
11g.34966649C>GCA473615364PDHXc.471C>G (p.Leu157=)
c.651C>G (p.Leu217=)
c.343-17921C>G (n.343-17921C>G)
c.606C>G (p.Leu202=)
11g.34966649C>TCA473615366PDHXc.471C>T (p.Leu157=)
c.651C>T (p.Leu217=)
c.343-17921C>T (n.343-17921C>T)
c.606C>T (p.Leu202=)
11g.34966650A>CCA380120502PDHXc.472A>C (p.Lys158Gln)
c.652A>C (p.Lys218Gln)
c.343-17920A>C (n.343-17920A>C)
c.607A>C (p.Lys203Gln)
11g.34966650A>GCA380120501PDHXc.472A>G (p.Lys158Glu)
c.652A>G (p.Lys218Glu)
c.343-17920A>G (n.343-17920A>G)
c.607A>G (p.Lys203Glu)
 gnomAD v4
11g.34966650A>TCA380120503PDHXc.472A>T (p.Lys158Ter)
c.652A>T (p.Lys218Ter)
c.343-17920A>T (n.343-17920A>T)
c.607A>T (p.Lys203Ter)
11g.34966651A=CA1963501580PDHXc.473A= (p.Lys158=)
c.653A= (p.Lys218=)
c.343-17919A= (n.343-17919A=)
c.608A= (p.Lys203=)
11g.34966651A>CCA380120504PDHXc.473A>C (p.Lys158Thr)
c.653A>C (p.Lys218Thr)
c.343-17919A>C (n.343-17919A>C)
c.608A>C (p.Lys203Thr)
11g.34966651A>GCA5945954PDHXc.473A>G (p.Lys158Arg)
c.653A>G (p.Lys218Arg)
c.343-17919A>G (n.343-17919A>G)
c.608A>G (p.Lys203Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966651A>TCA380120505PDHXc.473A>T (p.Lys158Ile)
c.653A>T (p.Lys218Ile)
c.343-17919A>T (n.343-17919A>T)
c.608A>T (p.Lys203Ile)
11g.34966652A>CCA380120506PDHXc.474A>C (p.Lys158Asn)
c.654A>C (p.Lys218Asn)
c.343-17918A>C (n.343-17918A>C)
c.609A>C (p.Lys203Asn)
11g.34966652A>GCA473615369PDHXc.474A>G (p.Lys158=)
c.654A>G (p.Lys218=)
c.343-17918A>G (n.343-17918A>G)
c.609A>G (p.Lys203=)
11g.34966652A>TCA380120507PDHXc.474A>T (p.Lys158Asn)
c.654A>T (p.Lys218Asn)
c.343-17918A>T (n.343-17918A>T)
c.609A>T (p.Lys203Asn)
11g.34966653C>ACA380120508PDHXc.475C>A (p.Leu159Ile)
c.655C>A (p.Leu219Ile)
c.343-17917C>A (n.343-17917C>A)
c.610C>A (p.Leu204Ile)
11g.34966653C>GCA380120509PDHXc.475C>G (p.Leu159Val)
c.655C>G (p.Leu219Val)
c.343-17917C>G (n.343-17917C>G)
c.610C>G (p.Leu204Val)
11g.34966653C>TCA380120510PDHXc.475C>T (p.Leu159Phe)
c.655C>T (p.Leu219Phe)
c.343-17917C>T (n.343-17917C>T)
c.610C>T (p.Leu204Phe)
11g.34966654T>ACA380120511PDHXc.476T>A (p.Leu159His)
c.656T>A (p.Leu219His)
c.343-17916T>A (n.343-17916T>A)
c.611T>A (p.Leu204His)
11g.34966654T>CCA380120512PDHXc.476T>C (p.Leu159Pro)
c.656T>C (p.Leu219Pro)
c.343-17916T>C (n.343-17916T>C)
c.611T>C (p.Leu204Pro)
11g.34966654T>GCA380120513PDHXc.476T>G (p.Leu159Arg)
c.656T>G (p.Leu219Arg)
c.343-17916T>G (n.343-17916T>G)
c.611T>G (p.Leu204Arg)
11g.34966655T>ACA473615370PDHXc.477T>A (p.Leu159=)
c.657T>A (p.Leu219=)
c.343-17915T>A (n.343-17915T>A)
c.612T>A (p.Leu204=)
 gnomAD v4
11g.34966655T>CCA473615371PDHXc.477T>C (p.Leu159=)
c.657T>C (p.Leu219=)
c.343-17915T>C (n.343-17915T>C)
c.612T>C (p.Leu204=)
11g.34966655T>GCA473615372PDHXc.477T>G (p.Leu159=)
c.657T>G (p.Leu219=)
c.343-17915T>G (n.343-17915T>G)
c.612T>G (p.Leu204=)
11g.34966656G>ACA380120514PDHXc.478G>A (p.Val160Ile)
c.658G>A (p.Val220Ile)
c.343-17914G>A (n.343-17914G>A)
c.613G>A (p.Val205Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.34966656G>CCA5945955PDHXc.478G>C (p.Val160Leu)
c.658G>C (p.Val220Leu)
c.343-17914G>C (n.343-17914G>C)
c.613G>C (p.Val205Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966656G=CA1963501587PDHXc.478G= (p.Val160=)
c.658G= (p.Val220=)
c.343-17914G= (n.343-17914G=)
c.613G= (p.Val205=)
11g.34966656G>TCA380120515PDHXc.478G>T (p.Val160Phe)
c.658G>T (p.Val220Phe)
c.343-17914G>T (n.343-17914G>T)
c.613G>T (p.Val205Phe)
11g.34966657T>ACA380120516PDHXc.479T>A (p.Val160Asp)
c.659T>A (p.Val220Asp)
c.343-17913T>A (n.343-17913T>A)
c.614T>A (p.Val205Asp)
11g.34966657T>CCA380120517PDHXc.479T>C (p.Val160Ala)
c.659T>C (p.Val220Ala)
c.343-17913T>C (n.343-17913T>C)
c.614T>C (p.Val205Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.34966657T>GCA380120518PDHXc.479T>G (p.Val160Gly)
c.659T>G (p.Val220Gly)
c.343-17913T>G (n.343-17913T>G)
c.614T>G (p.Val205Gly)
11g.34966657T=CA1963501590PDHXc.479T= (p.Val160=)
c.659T= (p.Val220=)
c.343-17913T= (n.343-17913T=)
c.614T= (p.Val205=)
11g.34966658C>ACA473615375PDHXc.480C>A (p.Val160=)
c.660C>A (p.Val220=)
c.343-17912C>A (n.343-17912C>A)
c.615C>A (p.Val205=)
11g.34966658C>GCA473615374PDHXc.480C>G (p.Val160=)
c.660C>G (p.Val220=)
c.343-17912C>G (n.343-17912C>G)
c.615C>G (p.Val205=)
11g.34966658C>TCA473615373PDHXc.480C>T (p.Val160=)
c.660C>T (p.Val220=)
c.343-17912C>T (n.343-17912C>T)
c.615C>T (p.Val205=)
11g.34966659C>ACA380120521PDHXc.481C>A (p.Gln161Lys)
c.661C>A (p.Gln221Lys)
c.343-17911C>A (n.343-17911C>A)
c.616C>A (p.Gln206Lys)
11g.34966659C>GCA380120519PDHXc.481C>G (p.Gln161Glu)
c.661C>G (p.Gln221Glu)
c.343-17911C>G (n.343-17911C>G)
c.616C>G (p.Gln206Glu)
11g.34966659C>TCA380120520PDHXc.481C>T (p.Gln161Ter)
c.661C>T (p.Gln221Ter)
c.343-17911C>T (n.343-17911C>T)
c.616C>T (p.Gln206Ter)
11g.34966660A=CA1963501594PDHXc.482A= (p.Gln161=)
c.662A= (p.Gln221=)
c.343-17910A= (n.343-17910A=)
c.617A= (p.Gln206=)
11g.34966660A>CCA380120522PDHXc.482A>C (p.Gln161Pro)
c.662A>C (p.Gln221Pro)
c.343-17910A>C (n.343-17910A>C)
c.617A>C (p.Gln206Pro)
11g.34966660A>GCA220466332PDHXc.482A>G (p.Gln161Arg)
c.662A>G (p.Gln221Arg)
c.343-17910A>G (n.343-17910A>G)
c.617A>G (p.Gln206Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.34966660A>TCA380120523PDHXc.482A>T (p.Gln161Leu)
c.662A>T (p.Gln221Leu)
c.343-17910A>T (n.343-17910A>T)
c.617A>T (p.Gln206Leu)
11g.34966661G>ACA473615376PDHXc.483G>A (p.Gln161=)
c.663G>A (p.Gln221=)
c.343-17909G>A (n.343-17909G>A)
c.618G>A (p.Gln206=)
 gnomAD v4
11g.34966661G>CCA380120524PDHXc.483G>C (p.Gln161His)
c.663G>C (p.Gln221His)
c.343-17909G>C (n.343-17909G>C)
c.618G>C (p.Gln206His)
11g.34966661G>TCA380120525PDHXc.483G>T (p.Gln161His)
c.663G>T (p.Gln221His)
c.343-17909G>T (n.343-17909G>T)
c.618G>T (p.Gln206His)
 gnomAD v4
11g.34966662T>ACA380120526PDHXc.484T>A (p.Leu162Met)
c.664T>A (p.Leu222Met)
c.343-17908T>A (n.343-17908T>A)
c.619T>A (p.Leu207Met)
11g.34966662T>CCA5945956PDHXc.484T>C (p.Leu162=)
c.664T>C (p.Leu222=)
c.343-17908T>C (n.343-17908T>C)
c.619T>C (p.Leu207=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.34966662T>GCA380120528PDHXc.484T>G (p.Leu162Val)
c.664T>G (p.Leu222Val)
c.343-17908T>G (n.343-17908T>G)
c.619T>G (p.Leu207Val)
11g.34966662T=CA1963501599PDHXc.484T= (p.Leu162=)
c.664T= (p.Leu222=)
c.343-17908T= (n.343-17908T=)
c.619T= (p.Leu207=)
11g.34966663T>ACA380120529PDHXc.485T>A (p.Leu162Ter)
c.665T>A (p.Leu222Ter)
c.343-17907T>A (n.343-17907T>A)
c.620T>A (p.Leu207Ter)
 dbSNP
11g.34966663T>CCA380120530PDHXc.485T>C (p.Leu162Ser)
c.665T>C (p.Leu222Ser)
c.343-17907T>C (n.343-17907T>C)
c.620T>C (p.Leu207Ser)
11g.34966663T>GCA380120531PDHXc.485T>G (p.Leu162Trp)
c.665T>G (p.Leu222Trp)
c.343-17907T>G (n.343-17907T>G)
c.620T>G (p.Leu207Trp)
11g.34966663T=CA1963501606PDHXc.485T= (p.Leu162=)
c.665T= (p.Leu222=)
c.343-17907T= (n.343-17907T=)
c.620T= (p.Leu207=)
11g.34966664G>ACA473615377PDHXc.486G>A (p.Leu162=)
c.666G>A (p.Leu222=)
c.343-17906G>A (n.343-17906G>A)
c.621G>A (p.Leu207=)
11g.34966664G>CCA380120532PDHXc.486G>C (p.Leu162Phe)
c.666G>C (p.Leu222Phe)
c.343-17906G>C (n.343-17906G>C)
c.621G>C (p.Leu207Phe)
11g.34966664G>TCA380120533PDHXc.486G>T (p.Leu162Phe)
c.666G>T (p.Leu222Phe)
c.343-17906G>T (n.343-17906G>T)
c.621G>T (p.Leu207Phe)
11g.34966665A>CCA380120534PDHXc.487A>C (p.Lys163Gln)
c.667A>C (p.Lys223Gln)
c.343-17905A>C (n.343-17905A>C)
c.622A>C (p.Lys208Gln)
11g.34966665A>GCA380120535PDHXc.487A>G (p.Lys163Glu)
c.667A>G (p.Lys223Glu)
c.343-17905A>G (n.343-17905A>G)
c.622A>G (p.Lys208Glu)
11g.34966665A>TCA380120536PDHXc.487A>T (p.Lys163Ter)
c.667A>T (p.Lys223Ter)
c.343-17905A>T (n.343-17905A>T)
c.622A>T (p.Lys208Ter)
11g.34966666A>CCA380120537PDHXc.488A>C (p.Lys163Thr)
c.668A>C (p.Lys223Thr)
c.343-17904A>C (n.343-17904A>C)
c.623A>C (p.Lys208Thr)
11g.34966666A>GCA380120538PDHXc.488A>G (p.Lys163Arg)
c.668A>G (p.Lys223Arg)
c.343-17904A>G (n.343-17904A>G)
c.623A>G (p.Lys208Arg)
11g.34966666A>TCA380120539PDHXc.488A>T (p.Lys163Ile)
c.668A>T (p.Lys223Ile)
c.343-17904A>T (n.343-17904A>T)
c.623A>T (p.Lys208Ile)
11g.34966667A=CA1963501610PDHXc.489A= (p.Lys163=)
c.669A= (p.Lys223=)
c.343-17903A= (n.343-17903A=)
c.624A= (p.Lys208=)
11g.34966667A>CCA380120540PDHXc.489A>C (p.Lys163Asn)
c.669A>C (p.Lys223Asn)
c.343-17903A>C (n.343-17903A>C)
c.624A>C (p.Lys208Asn)
11g.34966667A>GCA473615378PDHXc.489A>G (p.Lys163=)
c.669A>G (p.Lys223=)
c.343-17903A>G (n.343-17903A>G)
c.624A>G (p.Lys208=)
 dbSNP gnomAD v3 gnomAD v4
11g.34966667A>TCA380120541PDHXc.489A>T (p.Lys163Asn)
c.669A>T (p.Lys223Asn)
c.343-17903A>T (n.343-17903A>T)
c.624A>T (p.Lys208Asn)
11g.34966668C>ACA380120542PDHXc.490C>A (p.Gln164Lys)
c.670C>A (p.Gln224Lys)
c.343-17902C>A (n.343-17902C>A)
c.625C>A (p.Gln209Lys)
11g.34966668C=CA1963501613PDHXc.490C= (p.Gln164=)
c.670C= (p.Gln224=)
c.343-17902C= (n.343-17902C=)
c.625C= (p.Gln209=)
11g.34966668C>GCA5945957PDHXc.490C>G (p.Gln164Glu)
c.670C>G (p.Gln224Glu)
c.343-17902C>G (n.343-17902C>G)
c.625C>G (p.Gln209Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966668C>TCA220466337PDHXc.490C>T (p.Gln164Ter)
c.670C>T (p.Gln224Ter)
c.343-17902C>T (n.343-17902C>T)
c.625C>T (p.Gln209Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.34966669A=CA1963501618PDHXc.491A= (p.Gln164=)
c.671A= (p.Gln224=)
c.343-17901A= (n.343-17901A=)
c.626A= (p.Gln209=)
11g.34966669A>CCA380120545PDHXc.491A>C (p.Gln164Pro)
c.671A>C (p.Gln224Pro)
c.343-17901A>C (n.343-17901A>C)
c.626A>C (p.Gln209Pro)
11g.34966669A>GCA380120544PDHXc.491A>G (p.Gln164Arg)
c.671A>G (p.Gln224Arg)
c.343-17901A>G (n.343-17901A>G)
c.626A>G (p.Gln209Arg)
11g.34966669A>TCA380120543PDHXc.491A>T (p.Gln164Leu)
c.671A>T (p.Gln224Leu)
c.343-17901A>T (n.343-17901A>T)
c.626A>T (p.Gln209Leu)
 dbSNP
11g.34966670A=CA1963501623PDHXc.492A= (p.Gln164=)
c.672A= (p.Gln224=)
c.343-17900A= (n.343-17900A=)
c.627A= (p.Gln209=)
11g.34966670A>CCA380120546PDHXc.492A>C (p.Gln164His)
c.672A>C (p.Gln224His)
c.343-17900A>C (n.343-17900A>C)
c.627A>C (p.Gln209His)
11g.34966670A>GCA473615383PDHXc.492A>G (p.Gln164=)
c.672A>G (p.Gln224=)
c.343-17900A>G (n.343-17900A>G)
c.627A>G (p.Gln209=)
11g.34966670A>TCA380120547PDHXc.492A>T (p.Gln164His)
c.672A>T (p.Gln224His)
c.343-17900A>T (n.343-17900A>T)
c.627A>T (p.Gln209His)
 dbSNP
11g.34966671A>CCA380120548PDHXc.493A>C (p.Thr165Pro)
c.673A>C (p.Thr225Pro)
c.343-17899A>C (n.343-17899A>C)
c.628A>C (p.Thr210Pro)
11g.34966671A>GCA380120549PDHXc.493A>G (p.Thr165Ala)
c.673A>G (p.Thr225Ala)
c.343-17899A>G (n.343-17899A>G)
c.628A>G (p.Thr210Ala)
11g.34966671A>TCA380120550PDHXc.493A>T (p.Thr165Ser)
c.673A>T (p.Thr225Ser)
c.343-17899A>T (n.343-17899A>T)
c.628A>T (p.Thr210Ser)
11g.34966672C>ACA380120551PDHXc.494C>A (p.Thr165Lys)
c.674C>A (p.Thr225Lys)
c.343-17898C>A (n.343-17898C>A)
c.629C>A (p.Thr210Lys)
11g.34966672C=CA1963501633PDHXc.494C= (p.Thr165=)
c.674C= (p.Thr225=)
c.343-17898C= (n.343-17898C=)
c.629C= (p.Thr210=)
11g.34966672C>GCA380120552PDHXc.494C>G (p.Thr165Arg)
c.674C>G (p.Thr225Arg)
c.343-17898C>G (n.343-17898C>G)
c.629C>G (p.Thr210Arg)
 gnomAD v4
11g.34966672C>TCA320862PDHXc.494C>T (p.Thr165Met)
c.674C>T (p.Thr225Met)
c.343-17898C>T (n.343-17898C>T)
c.629C>T (p.Thr210Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966673G>ACA5945958PDHXc.495G>A (p.Thr165=)
c.675G>A (p.Thr225=)
c.343-17897G>A (n.343-17897G>A)
c.630G>A (p.Thr210=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966673G>CCA473615387PDHXc.495G>C (p.Thr165=)
c.675G>C (p.Thr225=)
c.343-17897G>C (n.343-17897G>C)
c.630G>C (p.Thr210=)
 gnomAD v4
11g.34966673G=CA1963501639PDHXc.495G= (p.Thr165=)
c.675G= (p.Thr225=)
c.343-17897G= (n.343-17897G=)
c.630G= (p.Thr210=)
11g.34966673G>TCA5945959PDHXc.495G>T (p.Thr165=)
c.675G>T (p.Thr225=)
c.343-17897G>T (n.343-17897G>T)
c.630G>T (p.Thr210=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.34966674G>ACA220466346PDHXc.496G>A (p.Gly166Ser)
c.676G>A (p.Gly226Ser)
c.343-17896G>A (n.343-17896G>A)
c.631G>A (p.Gly211Ser)
 dbSNP gnomAD v4
11g.34966674G>CCA380120553PDHXc.496G>C (p.Gly166Arg)
c.676G>C (p.Gly226Arg)
c.343-17896G>C (n.343-17896G>C)
c.631G>C (p.Gly211Arg)
11g.34966674G=CA1963501645PDHXc.496G= (p.Gly166=)
c.676G= (p.Gly226=)
c.343-17896G= (n.343-17896G=)
c.631G= (p.Gly211=)
11g.34966674G>TCA380120554PDHXc.496G>T (p.Gly166Cys)
c.676G>T (p.Gly226Cys)
c.343-17896G>T (n.343-17896G>T)
c.631G>T (p.Gly211Cys)
 dbSNP
11g.34966675G>ACA220466349PDHXc.497G>A (p.Gly166Asp)
c.677G>A (p.Gly226Asp)
c.343-17895G>A (n.343-17895G>A)
c.632G>A (p.Gly211Asp)
 dbSNP gnomAD v3 gnomAD v4
11g.34966675G>CCA380120555PDHXc.497G>C (p.Gly166Ala)
c.677G>C (p.Gly226Ala)
c.343-17895G>C (n.343-17895G>C)
c.632G>C (p.Gly211Ala)
11g.34966675G=CA1963501650PDHXc.497G= (p.Gly166=)
c.677G= (p.Gly226=)
c.343-17895G= (n.343-17895G=)
c.632G= (p.Gly211=)
11g.34966675G>TCA5945960PDHXc.497G>T (p.Gly166Val)
c.677G>T (p.Gly226Val)
c.343-17895G>T (n.343-17895G>T)
c.632G>T (p.Gly211Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.34966676C>ACA473615395PDHXc.498C>A (p.Gly166=)
c.678C>A (p.Gly226=)
c.343-17894C>A (n.343-17894C>A)
c.633C>A (p.Gly211=)
11g.34966676C>GCA473615392PDHXc.498C>G (p.Gly166=)
c.678C>G (p.Gly226=)
c.343-17894C>G (n.343-17894C>G)
c.633C>G (p.Gly211=)
11g.34966676C>TCA473615391PDHXc.498C>T (p.Gly166=)
c.678C>T (p.Gly226=)
c.343-17894C>T (n.343-17894C>T)
c.633C>T (p.Gly211=)
 gnomAD v4
11g.34966677A=CA1963501655PDHXc.499A= (p.Lys167=)
c.679A= (p.Lys227=)
c.343-17893A= (n.343-17893A=)
c.634A= (p.Lys212=)
11g.34966677A>CCA5945961PDHXc.499A>C (p.Lys167Gln)
c.679A>C (p.Lys227Gln)
c.343-17893A>C (n.343-17893A>C)
c.634A>C (p.Lys212Gln)
 dbSNP ExAC gnomAD v3 gnomAD v4
11g.34966677A>GCA380120556PDHXc.499A>G (p.Lys167Glu)
c.679A>G (p.Lys227Glu)
c.343-17893A>G (n.343-17893A>G)
c.634A>G (p.Lys212Glu)
 gnomAD v4
11g.34966677A>TCA380120557PDHXc.499A>T (p.Lys167Ter)
c.679A>T (p.Lys227Ter)
c.343-17893A>T (n.343-17893A>T)
c.634A>T (p.Lys212Ter)
11g.34966678A=CA1963501659PDHXc.500A= (p.Lys167=)
c.680A= (p.Lys227=)
c.343-17892A= (n.343-17892A=)
c.635A= (p.Lys212=)
11g.34966678A>CCA380120558PDHXc.500A>C (p.Lys167Thr)
c.680A>C (p.Lys227Thr)
c.343-17892A>C (n.343-17892A>C)
c.635A>C (p.Lys212Thr)
11g.34966678A>GCA380120559PDHXc.500A>G (p.Lys167Arg)
c.680A>G (p.Lys227Arg)
c.343-17892A>G (n.343-17892A>G)
c.635A>G (p.Lys212Arg)
 dbSNP COSMIC COSMIC
11g.34966678A>TCA380120560PDHXc.500A>T (p.Lys167Met)
c.680A>T (p.Lys227Met)
c.343-17892A>T (n.343-17892A>T)
c.635A>T (p.Lys212Met)
11g.34966679G>ACA473615399PDHXc.501G>A (p.Lys167=)
c.681G>A (p.Lys227=)
c.343-17891G>A (n.343-17891G>A)
c.636G>A (p.Lys212=)
 gnomAD v4
11g.34966679G>CCA380120561PDHXc.501G>C (p.Lys167Asn)
c.681G>C (p.Lys227Asn)
c.343-17891G>C (n.343-17891G>C)
c.636G>C (p.Lys212Asn)
 gnomAD v4
11g.34966679G>TCA380120562PDHXc.501G>T (p.Lys167Asn)
c.681G>T (p.Lys227Asn)
c.343-17891G>T (n.343-17891G>T)
c.636G>T (p.Lys212Asn)
 gnomAD v4
11g.34966680A>CCA380120563PDHXc.502A>C (p.Ile168Leu)
c.682A>C (p.Ile228Leu)
c.343-17890A>C (n.343-17890A>C)
c.637A>C (p.Ile213Leu)
11g.34966680A>GCA380120565PDHXc.502A>G (p.Ile168Val)
c.682A>G (p.Ile228Val)
c.343-17890A>G (n.343-17890A>G)
c.637A>G (p.Ile213Val)
11g.34966680A>TCA380120564PDHXc.502A>T (p.Ile168Phe)
c.682A>T (p.Ile228Phe)
c.343-17890A>T (n.343-17890A>T)
c.637A>T (p.Ile213Phe)
 ClinVar gnomAD v4
11g.34966681T>ACA380120566PDHXc.503T>A (p.Ile168Asn)
c.683T>A (p.Ile228Asn)
c.343-17889T>A (n.343-17889T>A)
c.638T>A (p.Ile213Asn)
11g.34966681T>CCA380120567PDHXc.503T>C (p.Ile168Thr)
c.683T>C (p.Ile228Thr)
c.343-17889T>C (n.343-17889T>C)
c.638T>C (p.Ile213Thr)
11g.34966681T>GCA380120568PDHXc.503T>G (p.Ile168Ser)
c.683T>G (p.Ile228Ser)
c.343-17889T>G (n.343-17889T>G)
c.638T>G (p.Ile213Ser)
11g.34966682T>ACA473615401PDHXc.504T>A (p.Ile168=)
c.684T>A (p.Ile228=)
c.343-17888T>A (n.343-17888T>A)
c.639T>A (p.Ile213=)
11g.34966682T>CCA473615403PDHXc.504T>C (p.Ile168=)
c.684T>C (p.Ile228=)
c.343-17888T>C (n.343-17888T>C)
c.639T>C (p.Ile213=)
11g.34966682T>GCA380120569PDHXc.504T>G (p.Ile168Met)
c.684T>G (p.Ile228Met)
c.343-17888T>G (n.343-17888T>G)
c.639T>G (p.Ile213Met)
11g.34966683A>CCA380120570PDHXc.505A>C (p.Thr169Pro)
c.685A>C (p.Thr229Pro)
c.343-17887A>C (n.343-17887A>C)
c.640A>C (p.Thr214Pro)
11g.34966683A>GCA380120572PDHXc.505A>G (p.Thr169Ala)
c.685A>G (p.Thr229Ala)
c.343-17887A>G (n.343-17887A>G)
c.640A>G (p.Thr214Ala)
11g.34966683A>TCA380120571PDHXc.505A>T (p.Thr169Ser)
c.685A>T (p.Thr229Ser)
c.343-17887A>T (n.343-17887A>T)
c.640A>T (p.Thr214Ser)
11g.34966684C>ACA380120573PDHXc.506C>A (p.Thr169Asn)
c.686C>A (p.Thr229Asn)
c.343-17886C>A (n.343-17886C>A)
c.641C>A (p.Thr214Asn)
11g.34966684C>GCA380120574PDHXc.506C>G (p.Thr169Ser)
c.686C>G (p.Thr229Ser)
c.343-17886C>G (n.343-17886C>G)
c.641C>G (p.Thr214Ser)
11g.34966684C>TCA380120575PDHXc.506C>T (p.Thr169Ile)
c.686C>T (p.Thr229Ile)
c.343-17886C>T (n.343-17886C>T)
c.641C>T (p.Thr214Ile)
11g.34966685C>ACA473615408PDHXc.507C>A (p.Thr169=)
c.687C>A (p.Thr229=)
c.343-17885C>A (n.343-17885C>A)
c.642C>A (p.Thr214=)
11g.34966685C=CA1963501662PDHXc.507C= (p.Thr169=)
c.687C= (p.Thr229=)
c.343-17885C= (n.343-17885C=)
c.642C= (p.Thr214=)
11g.34966685C>GCA473615409PDHXc.507C>G (p.Thr169=)
c.687C>G (p.Thr229=)
c.343-17885C>G (n.343-17885C>G)
c.642C>G (p.Thr214=)
 dbSNP gnomAD v3 gnomAD v4
11g.34966685C>TCA473615410PDHXc.507C>T (p.Thr169=)
c.687C>T (p.Thr229=)
c.343-17885C>T (n.343-17885C>T)
c.642C>T (p.Thr214=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.34966686G>ACA5945962PDHXc.508G>A (p.Glu170Lys)
c.688G>A (p.Glu230Lys)
c.343-17884G>A (n.343-17884G>A)
c.643G>A (p.Glu215Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.34966686G>CCA380120576PDHXc.508G>C (p.Glu170Gln)
c.688G>C (p.Glu230Gln)
c.343-17884G>C (n.343-17884G>C)
c.643G>C (p.Glu215Gln)
11g.34966686G=CA1963501665PDHXc.508G= (p.Glu170=)
c.688G= (p.Glu230=)
c.343-17884G= (n.343-17884G=)
c.643G= (p.Glu215=)
11g.34966686G>TCA380120577PDHXc.508G>T (p.Glu170Ter)
c.688G>T (p.Glu230Ter)
c.343-17884G>T (n.343-17884G>T)
c.643G>T (p.Glu215Ter)
11g.34966687A>CCA380120578PDHXc.509A>C (p.Glu170Ala)
c.689A>C (p.Glu230Ala)
c.343-17883A>C (n.343-17883A>C)
c.644A>C (p.Glu215Ala)
11g.34966687A>GCA380120579PDHXc.509A>G (p.Glu170Gly)
c.689A>G (p.Glu230Gly)
c.343-17883A>G (n.343-17883A>G)
c.644A>G (p.Glu215Gly)
 gnomAD v4
11g.34966687A>TCA380120580PDHXc.509A>T (p.Glu170Val)
c.689A>T (p.Glu230Val)
c.343-17883A>T (n.343-17883A>T)
c.644A>T (p.Glu215Val)
11g.34966688G>ACA473615418PDHXc.510G>A (p.Glu170=)
c.690G>A (p.Glu230=)
c.343-17882G>A (n.343-17882G>A)
c.645G>A (p.Glu215=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.34966688G>CCA380120581PDHXc.510G>C (p.Glu170Asp)
c.690G>C (p.Glu230Asp)
c.343-17882G>C (n.343-17882G>C)
c.645G>C (p.Glu215Asp)
11g.34966688G=CA1963501668PDHXc.510G= (p.Glu170=)
c.690G= (p.Glu230=)
c.343-17882G= (n.343-17882G=)
c.645G= (p.Glu215=)
11g.34966688G>TCA380120582PDHXc.510G>T (p.Glu170Asp)
c.690G>T (p.Glu230Asp)
c.343-17882G>T (n.343-17882G>T)
c.645G>T (p.Glu215Asp)
11g.34966689T>ACA380120585PDHXc.511T>A (p.Ser171Thr)
c.691T>A (p.Ser231Thr)
c.343-17881T>A (n.343-17881T>A)
c.646T>A (p.Ser216Thr)
 ClinVar gnomAD v4
11g.34966689T>CCA380120584PDHXc.511T>C (p.Ser171Pro)
c.691T>C (p.Ser231Pro)
c.343-17881T>C (n.343-17881T>C)
c.646T>C (p.Ser216Pro)
11g.34966689T>GCA380120583PDHXc.511T>G (p.Ser171Ala)
c.691T>G (p.Ser231Ala)
c.343-17881T>G (n.343-17881T>G)
c.646T>G (p.Ser216Ala)
11g.34966690C>ACA380120586PDHXc.512C>A (p.Ser171Tyr)
c.692C>A (p.Ser231Tyr)
c.343-17880C>A (n.343-17880C>A)
c.647C>A (p.Ser216Tyr)
11g.34966690C>GCA380120587PDHXc.512C>G (p.Ser171Cys)
c.692C>G (p.Ser231Cys)
c.343-17880C>G (n.343-17880C>G)
c.647C>G (p.Ser216Cys)
11g.34966690C>TCA380120588PDHXc.512C>T (p.Ser171Phe)
c.692C>T (p.Ser231Phe)
c.343-17880C>T (n.343-17880C>T)
c.647C>T (p.Ser216Phe)
11g.34966691C>ACA473615426PDHXc.513C>A (p.Ser171=)
c.693C>A (p.Ser231=)
c.343-17879C>A (n.343-17879C>A)
c.648C>A (p.Ser216=)
11g.34966691C>GCA473615424PDHXc.513C>G (p.Ser171=)
c.693C>G (p.Ser231=)
c.343-17879C>G (n.343-17879C>G)
c.648C>G (p.Ser216=)
11g.34966691C>TCA473615423PDHXc.513C>T (p.Ser171=)
c.693C>T (p.Ser231=)
c.343-17879C>T (n.343-17879C>T)
c.648C>T (p.Ser216=)
11g.34966692A=CA1963501671PDHXc.514A= (p.Arg172=)
c.694A= (p.Arg232=)
c.343-17878A= (n.343-17878A=)
c.649A= (p.Arg217=)
11g.34966692A>CCA473615429PDHXc.514A>C (p.Arg172=)
c.694A>C (p.Arg232=)
c.343-17878A>C (n.343-17878A>C)
c.649A>C (p.Arg217=)
11g.34966692A>GCA380120589PDHXc.514A>G (p.Arg172Gly)
c.694A>G (p.Arg232Gly)
c.343-17878A>G (n.343-17878A>G)
c.649A>G (p.Arg217Gly)
11g.34966692A>TCA380120590PDHXc.514A>T (p.Arg172Ter)
c.694A>T (p.Arg232Ter)
c.343-17878A>T (n.343-17878A>T)
c.649A>T (p.Arg217Ter)
 dbSNP gnomAD v2 gnomAD v4
11g.34966693G>ACA380120591PDHXc.515G>A (p.Arg172Lys)
c.695G>A (p.Arg232Lys)
c.343-17877G>A (n.343-17877G>A)
c.650G>A (p.Arg217Lys)
11g.34966693G>CCA380120592PDHXc.515G>C (p.Arg172Thr)
c.695G>C (p.Arg232Thr)
c.343-17877G>C (n.343-17877G>C)
c.650G>C (p.Arg217Thr)
11g.34966693G>TCA380120593PDHXc.515G>T (p.Arg172Ile)
c.695G>T (p.Arg232Ile)
c.343-17877G>T (n.343-17877G>T)
c.650G>T (p.Arg217Ile)
11g.34966694A=CA1963501673PDHXc.516A= (p.Arg172=)
c.696A= (p.Arg232=)
c.343-17876A= (n.343-17876A=)
c.651A= (p.Arg217=)
11g.34966694A>CCA380120594PDHXc.516A>C (p.Arg172Ser)
c.696A>C (p.Arg232Ser)
c.343-17876A>C (n.343-17876A>C)
c.651A>C (p.Arg217Ser)
11g.34966694A>GCA473615431PDHXc.516A>G (p.Arg172=)
c.696A>G (p.Arg232=)
c.343-17876A>G (n.343-17876A>G)
c.651A>G (p.Arg217=)
 dbSNP
11g.34966694A>TCA380120595PDHXc.516A>T (p.Arg172Ser)
c.696A>T (p.Arg232Ser)
c.343-17876A>T (n.343-17876A>T)
c.651A>T (p.Arg217Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.34966695C>ACA380120596PDHXc.517C>A (p.Pro173Thr)
c.697C>A (p.Pro233Thr)
c.343-17875C>A (n.343-17875C>A)
c.652C>A (p.Pro218Thr)
11g.34966695C>GCA380120597PDHXc.517C>G (p.Pro173Ala)
c.697C>G (p.Pro233Ala)
c.343-17875C>G (n.343-17875C>G)
c.652C>G (p.Pro218Ala)
11g.34966695C>TCA380120598PDHXc.517C>T (p.Pro173Ser)
c.697C>T (p.Pro233Ser)
c.343-17875C>T (n.343-17875C>T)
c.652C>T (p.Pro218Ser)
11g.34966696C>ACA380120601PDHXc.518C>A (p.Pro173Gln)
c.698C>A (p.Pro233Gln)
c.343-17874C>A (n.343-17874C>A)
c.653C>A (p.Pro218Gln)
11g.34966696C>GCA380120599PDHXc.518C>G (p.Pro173Arg)
c.698C>G (p.Pro233Arg)
c.343-17874C>G (n.343-17874C>G)
c.653C>G (p.Pro218Arg)
11g.34966696C>TCA380120600PDHXc.518C>T (p.Pro173Leu)
c.698C>T (p.Pro233Leu)
c.343-17874C>T (n.343-17874C>T)
c.653C>T (p.Pro218Leu)

Number of alleles fetched