Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.19350111_19351408dupCA913191131PDHA1c.291+1_439+1dup
c.291+1_418+1dup
c.375+1_502+1dup
c.405+1_532+1dup
n.393+1_521dup
c.405+1_553+1dup
 ClinVar
Xg.19351249T>CCA2418222083PDHA1c.292-11T>C (n.292-11T>C)
c.292-32T>C (n.292-32T>C)
c.376-32T>C (n.376-32T>C)
c.406-32T>C (n.406-32T>C)
n.394-32T>C
c.406-11T>C (n.406-11T>C)
 dbSNP
Xg.19351249T=CA2418222082PDHA1c.292-11T= (n.292-11T=)
c.292-32T= (n.292-32T=)
c.376-32T= (n.376-32T=)
c.406-32T= (n.406-32T=)
n.394-32T=
c.406-11T= (n.406-11T=)
Xg.19351251G>ACA2693249835PDHA1c.292-9G>A (n.292-9G>A)
c.292-30G>A (n.292-30G>A)
c.376-30G>A (n.376-30G>A)
c.406-30G>A (n.406-30G>A)
n.394-30G>A
c.406-9G>A (n.406-9G>A)
 gnomAD v4
Xg.19351252C>TCA2819936426PDHA1c.292-8C>T (n.292-8C>T)
c.292-29C>T (n.292-29C>T)
c.376-29C>T (n.376-29C>T)
c.406-29C>T (n.406-29C>T)
n.394-29C>T
c.406-8C>T (n.406-8C>T)
Xg.19351254T>CCA2693249836PDHA1c.292-6T>C (n.292-6T>C)
c.292-27T>C (n.292-27T>C)
c.376-27T>C (n.376-27T>C)
c.406-27T>C (n.406-27T>C)
n.394-27T>C
c.406-6T>C (n.406-6T>C)
 gnomAD v4
Xg.19351254T>GCA640521244PDHA1c.292-6T>G (n.292-6T>G)
c.292-27T>G (n.292-27T>G)
c.376-27T>G (n.376-27T>G)
c.406-27T>G (n.406-27T>G)
n.394-27T>G
c.406-6T>G (n.406-6T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.19351254T=CA2418222084PDHA1c.292-6T= (n.292-6T=)
c.292-27T= (n.292-27T=)
c.376-27T= (n.376-27T=)
c.406-27T= (n.406-27T=)
n.394-27T=
c.406-6T= (n.406-6T=)
Xg.19351255C>GCA2693249837PDHA1c.292-5C>G (n.292-5C>G)
c.292-26C>G (n.292-26C>G)
c.376-26C>G (n.376-26C>G)
c.406-26C>G (n.406-26C>G)
n.394-26C>G
c.406-5C>G (n.406-5C>G)
 gnomAD v4
Xg.19351257_19351258delCA2693249838PDHA1c.292-3_292-2del (n.292-3_292-2del)
c.292-24_292-23del (n.292-24_292-23del)
c.376-24_376-23del (n.376-24_376-23del)
c.406-24_406-23del (n.406-24_406-23del)
n.394-24_394-23del
c.406-3_406-2del (n.406-3_406-2del)
 gnomAD v4
Xg.19351257T>CCA2738436288PDHA1c.292-3T>C (n.292-3T>C)
c.292-24T>C (n.292-24T>C)
c.376-24T>C (n.376-24T>C)
c.406-24T>C (n.406-24T>C)
n.394-24T>C
c.406-3T>C (n.406-3T>C)
 dbSNP
Xg.19351258A=CA2418222085PDHA1c.292-2A= (n.292-2A=)
c.292-23A= (n.292-23A=)
c.376-23A= (n.376-23A=)
c.406-23A= (n.406-23A=)
n.394-23A=
c.406-2A= (n.406-2A=)
Xg.19351258A>CCA412390728PDHA1c.292-2A>C (n.292-2A>C)
c.292-23A>C (n.292-23A>C)
c.376-23A>C (n.376-23A>C)
c.406-23A>C (n.406-23A>C)
n.394-23A>C
c.406-2A>C (n.406-2A>C)
Xg.19351258A>GCA16043723PDHA1c.292-2A>G (n.292-2A>G)
c.292-23A>G (n.292-23A>G)
c.376-23A>G (n.376-23A>G)
c.406-23A>G (n.406-23A>G)
n.394-23A>G
c.406-2A>G (n.406-2A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.19351258A>TCA412390730PDHA1c.292-2A>T (n.292-2A>T)
c.292-23A>T (n.292-23A>T)
c.376-23A>T (n.376-23A>T)
c.406-23A>T (n.406-23A>T)
n.394-23A>T
c.406-2A>T (n.406-2A>T)
Xg.19351259G>ACA412390733PDHA1c.292-1G>A (n.292-1G>A)
c.292-22G>A (n.292-22G>A)
c.376-22G>A (n.376-22G>A)
c.406-22G>A (n.406-22G>A)
n.394-22G>A
c.406-1G>A (n.406-1G>A)
Xg.19351259G>CCA412390734PDHA1c.292-1G>C (n.292-1G>C)
c.292-22G>C (n.292-22G>C)
c.376-22G>C (n.376-22G>C)
c.406-22G>C (n.406-22G>C)
n.394-22G>C
c.406-1G>C (n.406-1G>C)
Xg.19351259G>TCA412390737PDHA1c.292-1G>T (n.292-1G>T)
c.292-22G>T (n.292-22G>T)
c.376-22G>T (n.376-22G>T)
c.406-22G>T (n.406-22G>T)
n.394-22G>T
c.406-1G>T (n.406-1G>T)
Xg.19351260T>ACA412390739PDHA1c.292T>A (p.Phe98Ile)
c.292-21T>A (n.292-21T>A)
c.376-21T>A (n.376-21T>A)
c.406-21T>A (n.406-21T>A)
n.394-21T>A
c.406T>A (p.Phe136Ile)
Xg.19351260T>CCA412390740PDHA1c.292T>C (p.Phe98Leu)
c.292-21T>C (n.292-21T>C)
c.376-21T>C (n.376-21T>C)
c.406-21T>C (n.406-21T>C)
n.394-21T>C
c.406T>C (p.Phe136Leu)
 COSMIC
Xg.19351260T>GCA412390742PDHA1c.292T>G (p.Phe98Val)
c.292-21T>G (n.292-21T>G)
c.376-21T>G (n.376-21T>G)
c.406-21T>G (n.406-21T>G)
n.394-21T>G
c.406T>G (p.Phe136Val)
Xg.19351261T>ACA412390745PDHA1c.293T>A (p.Phe98Tyr)
c.292-20T>A (n.292-20T>A)
c.376-20T>A (n.376-20T>A)
c.406-20T>A (n.406-20T>A)
n.394-20T>A
c.407T>A (p.Phe136Tyr)
Xg.19351261T>CCA412390747PDHA1c.293T>C (p.Phe98Ser)
c.292-20T>C (n.292-20T>C)
c.376-20T>C (n.376-20T>C)
c.406-20T>C (n.406-20T>C)
n.394-20T>C
c.407T>C (p.Phe136Ser)
Xg.19351261T>GCA412390748PDHA1c.293T>G (p.Phe98Cys)
c.292-20T>G (n.292-20T>G)
c.376-20T>G (n.376-20T>G)
c.406-20T>G (n.406-20T>G)
n.394-20T>G
c.407T>G (p.Phe136Cys)
Xg.19351262T>ACA412390753PDHA1c.294T>A (p.Phe98Leu)
c.292-19T>A (n.292-19T>A)
c.376-19T>A (n.376-19T>A)
c.406-19T>A (n.406-19T>A)
n.394-19T>A
c.408T>A (p.Phe136Leu)
Xg.19351262T>CCA10363020PDHA1c.294T>C (p.Phe98=)
c.292-19T>C (n.292-19T>C)
c.376-19T>C (n.376-19T>C)
c.406-19T>C (n.406-19T>C)
n.394-19T>C
c.408T>C (p.Phe136=)
 dbSNP ExAC
Xg.19351262T>GCA412390751PDHA1c.294T>G (p.Phe98Leu)
c.292-19T>G (n.292-19T>G)
c.376-19T>G (n.376-19T>G)
c.406-19T>G (n.406-19T>G)
n.394-19T>G
c.408T>G (p.Phe136Leu)
Xg.19351262T=CA2418222086PDHA1c.294T= (p.Phe98=)
c.292-19T= (n.292-19T=)
c.376-19T= (n.376-19T=)
c.406-19T= (n.406-19T=)
n.394-19T=
c.408T= (p.Phe136=)
Xg.19351263C>ACA412390756PDHA1c.295C>A (p.Leu99Ile)
c.292-18C>A (n.292-18C>A)
c.376-18C>A (n.376-18C>A)
c.406-18C>A (n.406-18C>A)
n.394-18C>A
c.409C>A (p.Leu137Ile)
Xg.19351263C>GCA412390758PDHA1c.295C>G (p.Leu99Val)
c.292-18C>G (n.292-18C>G)
c.376-18C>G (n.376-18C>G)
c.406-18C>G (n.406-18C>G)
n.394-18C>G
c.409C>G (p.Leu137Val)
Xg.19351263C>TCA412390760PDHA1c.295C>T (p.Leu99Phe)
c.292-18C>T (n.292-18C>T)
c.376-18C>T (n.376-18C>T)
c.406-18C>T (n.406-18C>T)
n.394-18C>T
c.409C>T (p.Leu137Phe)
Xg.19351264T>ACA412390763PDHA1c.296T>A (p.Leu99His)
c.292-17T>A (n.292-17T>A)
c.376-17T>A (n.376-17T>A)
c.406-17T>A (n.406-17T>A)
n.394-17T>A
c.410T>A (p.Leu137His)
Xg.19351264T>CCA412390765PDHA1c.296T>C (p.Leu99Pro)
c.292-17T>C (n.292-17T>C)
c.376-17T>C (n.376-17T>C)
c.406-17T>C (n.406-17T>C)
n.394-17T>C
c.410T>C (p.Leu137Pro)
Xg.19351264T>GCA412390767PDHA1c.296T>G (p.Leu99Arg)
c.292-17T>G (n.292-17T>G)
c.376-17T>G (n.376-17T>G)
c.406-17T>G (n.406-17T>G)
n.394-17T>G
c.410T>G (p.Leu137Arg)
Xg.19351265C=CA2418222087PDHA1c.297C= (p.Leu99=)
c.292-16C= (n.292-16C=)
c.376-16C= (n.376-16C=)
c.406-16C= (n.406-16C=)
n.394-16C=
c.411C= (p.Leu137=)
Xg.19351265C>TCA873736238PDHA1c.297C>T (p.Leu99=)
c.292-16C>T (n.292-16C>T)
c.376-16C>T (n.376-16C>T)
c.406-16C>T (n.406-16C>T)
n.394-16C>T
c.411C>T (p.Leu137=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.19351266C>ACA412390770PDHA1c.298C>A (p.Leu100Ile)
c.292-15C>A (n.292-15C>A)
c.376-15C>A (n.376-15C>A)
c.406-15C>A (n.406-15C>A)
n.394-15C>A
c.412C>A (p.Leu138Ile)
Xg.19351266C>GCA412390771PDHA1c.298C>G (p.Leu100Val)
c.292-15C>G (n.292-15C>G)
c.376-15C>G (n.376-15C>G)
c.406-15C>G (n.406-15C>G)
n.394-15C>G
c.412C>G (p.Leu138Val)
Xg.19351266C>TCA412390773PDHA1c.298C>T (p.Leu100Phe)
c.292-15C>T (n.292-15C>T)
c.376-15C>T (n.376-15C>T)
c.406-15C>T (n.406-15C>T)
n.394-15C>T
c.412C>T (p.Leu138Phe)
Xg.19351267T>ACA412390775PDHA1c.299T>A (p.Leu100His)
c.292-14T>A (n.292-14T>A)
c.376-14T>A (n.376-14T>A)
c.406-14T>A (n.406-14T>A)
n.394-14T>A
c.413T>A (p.Leu138His)
Xg.19351267T>CCA412390777PDHA1c.299T>C (p.Leu100Pro)
c.292-14T>C (n.292-14T>C)
c.376-14T>C (n.376-14T>C)
c.406-14T>C (n.406-14T>C)
n.394-14T>C
c.413T>C (p.Leu138Pro)
Xg.19351267T>GCA412390779PDHA1c.299T>G (p.Leu100Arg)
c.292-14T>G (n.292-14T>G)
c.376-14T>G (n.376-14T>G)
c.406-14T>G (n.406-14T>G)
n.394-14T>G
c.413T>G (p.Leu138Arg)
Xg.19351269C>ACA412390781PDHA1c.301C>A (p.Pro101Thr)
c.292-12C>A (n.292-12C>A)
c.376-12C>A (n.376-12C>A)
c.406-12C>A (n.406-12C>A)
n.394-12C>A
c.415C>A (p.Pro139Thr)
Xg.19351269C=CA2418222088PDHA1c.301C= (p.Pro101=)
c.292-12C= (n.292-12C=)
c.376-12C= (n.376-12C=)
c.406-12C= (n.406-12C=)
n.394-12C=
c.415C= (p.Pro139=)
Xg.19351269C>GCA412390785PDHA1c.301C>G (p.Pro101Ala)
c.292-12C>G (n.292-12C>G)
c.376-12C>G (n.376-12C>G)
c.406-12C>G (n.406-12C>G)
n.394-12C>G
c.415C>G (p.Pro139Ala)
Xg.19351269C>TCA412390783PDHA1c.301C>T (p.Pro101Ser)
c.292-12C>T (n.292-12C>T)
c.376-12C>T (n.376-12C>T)
c.406-12C>T (n.406-12C>T)
n.394-12C>T
c.415C>T (p.Pro139Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.19351270C>ACA412390787PDHA1c.302C>A (p.Pro101His)
c.292-11C>A (n.292-11C>A)
c.376-11C>A (n.376-11C>A)
c.406-11C>A (n.406-11C>A)
n.394-11C>A
c.416C>A (p.Pro139His)
 gnomAD v4
Xg.19351270C=CA2418222089PDHA1c.302C= (p.Pro101=)
c.292-11C= (n.292-11C=)
c.376-11C= (n.376-11C=)
c.406-11C= (n.406-11C=)
n.394-11C=
c.416C= (p.Pro139=)
Xg.19351270C>GCA412390789PDHA1c.302C>G (p.Pro101Arg)
c.292-11C>G (n.292-11C>G)
c.376-11C>G (n.376-11C>G)
c.406-11C>G (n.406-11C>G)
n.394-11C>G
c.416C>G (p.Pro139Arg)
Xg.19351270C>TCA10363021PDHA1c.302C>T (p.Pro101Leu)
c.292-11C>T (n.292-11C>T)
c.376-11C>T (n.376-11C>T)
c.406-11C>T (n.406-11C>T)
n.394-11C>T
c.416C>T (p.Pro139Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19351271T>ACA2693249839PDHA1c.303T>A (p.Pro101=)
c.292-10T>A (n.292-10T>A)
c.376-10T>A (n.376-10T>A)
c.406-10T>A (n.406-10T>A)
n.394-10T>A
c.417T>A (p.Pro139=)
 gnomAD v4
Xg.19351272C>ACA412390792PDHA1c.304C>A (p.Leu102Ile)
c.292-9C>A (n.292-9C>A)
c.376-9C>A (n.376-9C>A)
c.406-9C>A (n.406-9C>A)
n.394-9C>A
c.418C>A (p.Leu140Ile)
Xg.19351272C=CA2418222090PDHA1c.304C= (p.Leu102=)
c.292-9C= (n.292-9C=)
c.376-9C= (n.376-9C=)
c.406-9C= (n.406-9C=)
n.394-9C=
c.418C= (p.Leu140=)
Xg.19351272C>GCA327024417PDHA1c.304C>G (p.Leu102Val)
c.292-9C>G (n.292-9C>G)
c.376-9C>G (n.376-9C>G)
c.406-9C>G (n.406-9C>G)
n.394-9C>G
c.418C>G (p.Leu140Val)
 dbSNP gnomAD v4
Xg.19351272C>TCA2499226548PDHA1c.304C>T (p.Leu102=)
c.292-9C>T (n.292-9C>T)
c.376-9C>T (n.376-9C>T)
c.406-9C>T (n.406-9C>T)
n.394-9C>T
c.418C>T (p.Leu140=)
 ClinVar dbSNP
Xg.19351273T>ACA412390794PDHA1c.305T>A (p.Leu102Gln)
c.292-8T>A (n.292-8T>A)
c.376-8T>A (n.376-8T>A)
c.406-8T>A (n.406-8T>A)
n.394-8T>A
c.419T>A (p.Leu140Gln)
 ClinVar
Xg.19351273T>CCA412390796PDHA1c.305T>C (p.Leu102Pro)
c.292-8T>C (n.292-8T>C)
c.376-8T>C (n.376-8T>C)
c.406-8T>C (n.406-8T>C)
n.394-8T>C
c.419T>C (p.Leu140Pro)
Xg.19351273T>GCA412390798PDHA1c.305T>G (p.Leu102Arg)
c.292-8T>G (n.292-8T>G)
c.376-8T>G (n.376-8T>G)
c.406-8T>G (n.406-8T>G)
n.394-8T>G
c.419T>G (p.Leu140Arg)
Xg.19351274A>GCA2499226549PDHA1c.306A>G (p.Leu102=)
c.292-7A>G (n.292-7A>G)
c.376-7A>G (n.376-7A>G)
c.406-7A>G (n.406-7A>G)
n.394-7A>G
c.420A>G (p.Leu140=)
 ClinVar dbSNP
Xg.19351275delCA2579566220PDHA1c.307del (p.Thr103HisfsTer?)
c.292-6del (n.292-6del)
c.376-6del (n.376-6del)
c.406-6del (n.406-6del)
n.394-6del
c.421del (p.Thr141HisfsTer?)
Xg.19351275A>CCA412390800PDHA1c.307A>C (p.Thr103Pro)
c.292-6A>C (n.292-6A>C)
c.376-6A>C (n.376-6A>C)
c.406-6A>C (n.406-6A>C)
n.394-6A>C
c.421A>C (p.Thr141Pro)
Xg.19351275A>GCA412390801PDHA1c.307A>G (p.Thr103Ala)
c.292-6A>G (n.292-6A>G)
c.376-6A>G (n.376-6A>G)
c.406-6A>G (n.406-6A>G)
n.394-6A>G
c.421A>G (p.Thr141Ala)
Xg.19351275A>TCA412390803PDHA1c.307A>T (p.Thr103Ser)
c.292-6A>T (n.292-6A>T)
c.376-6A>T (n.376-6A>T)
c.406-6A>T (n.406-6A>T)
n.394-6A>T
c.421A>T (p.Thr141Ser)
 gnomAD v4
Xg.19351276C>ACA412390805PDHA1c.308C>A (p.Thr103Lys)
c.292-5C>A (n.292-5C>A)
c.376-5C>A (n.376-5C>A)
c.406-5C>A (n.406-5C>A)
n.394-5C>A
c.422C>A (p.Thr141Lys)
Xg.19351276C=CA2418222091PDHA1c.308C= (p.Thr103=)
c.292-5C= (n.292-5C=)
c.376-5C= (n.376-5C=)
c.406-5C= (n.406-5C=)
n.394-5C=
c.422C= (p.Thr141=)
Xg.19351276C>GCA412390807PDHA1c.308C>G (p.Thr103Arg)
c.292-5C>G (n.292-5C>G)
c.376-5C>G (n.376-5C>G)
c.406-5C>G (n.406-5C>G)
n.394-5C>G
c.422C>G (p.Thr141Arg)
Xg.19351276C>TCA10363022PDHA1c.308C>T (p.Thr103Ile)
c.292-5C>T (n.292-5C>T)
c.376-5C>T (n.376-5C>T)
c.406-5C>T (n.406-5C>T)
n.394-5C>T
c.422C>T (p.Thr141Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19351278C>ACA412390815PDHA1c.310C>A (p.Gln104Lys)
c.292-3C>A (n.292-3C>A)
c.376-3C>A (n.376-3C>A)
c.406-3C>A (n.406-3C>A)
n.394-3C>A
c.424C>A (p.Gln142Lys)
 gnomAD v4
Xg.19351278C>GCA412390813PDHA1c.310C>G (p.Gln104Glu)
c.292-3C>G (n.292-3C>G)
c.376-3C>G (n.376-3C>G)
c.406-3C>G (n.406-3C>G)
n.394-3C>G
c.424C>G (p.Gln142Glu)
Xg.19351278C>TCA412390811PDHA1c.310C>T (p.Gln104Ter)
c.292-3C>T (n.292-3C>T)
c.376-3C>T (n.376-3C>T)
c.406-3C>T (n.406-3C>T)
n.394-3C>T
c.424C>T (p.Gln142Ter)
Xg.19351279A>CCA412390818PDHA1c.311A>C (p.Gln104Pro)
c.292-2A>C (n.292-2A>C)
c.376-2A>C (n.376-2A>C)
c.406-2A>C (n.406-2A>C)
n.394-2A>C
c.425A>C (p.Gln142Pro)
Xg.19351279A>GCA412390820PDHA1c.311A>G (p.Gln104Arg)
c.292-2A>G (n.292-2A>G)
c.376-2A>G (n.376-2A>G)
c.406-2A>G (n.406-2A>G)
n.394-2A>G
c.425A>G (p.Gln142Arg)
Xg.19351279A>TCA412390822PDHA1c.311A>T (p.Gln104Leu)
c.292-2A>T (n.292-2A>T)
c.376-2A>T (n.376-2A>T)
c.406-2A>T (n.406-2A>T)
n.394-2A>T
c.425A>T (p.Gln142Leu)
Xg.19351280G>ACA323036PDHA1c.312G>A (p.Gln104=)
c.292-1G>A (n.292-1G>A)
c.376-1G>A (n.376-1G>A)
c.406-1G>A (n.406-1G>A)
n.394-1G>A
c.426G>A (p.Gln142=)
 ClinVar dbSNP
Xg.19351280G>CCA412390826PDHA1c.312G>C (p.Gln104His)
c.292-1G>C (n.292-1G>C)
c.376-1G>C (n.376-1G>C)
c.406-1G>C (n.406-1G>C)
n.394-1G>C
c.426G>C (p.Gln142His)
Xg.19351280G=CA2418222092PDHA1c.312G= (p.Gln104=)
c.292-1G= (n.292-1G=)
c.376-1G= (n.376-1G=)
c.406-1G= (n.406-1G=)
n.394-1G=
c.426G= (p.Gln142=)
Xg.19351280G>TCA412390827PDHA1c.312G>T (p.Gln104His)
c.292-1G>T (n.292-1G>T)
c.376-1G>T (n.376-1G>T)
c.406-1G>T (n.406-1G>T)
n.394-1G>T
c.426G>T (p.Gln142His)
Xg.19351281G>ACA412390829PDHA1c.313G>A (p.Glu105Lys)
c.292G>A (p.Glu98Lys)
c.376G>A (p.Glu126Lys)
c.406G>A (p.Glu136Lys)
n.394G>A
c.427G>A (p.Glu143Lys)
Xg.19351281G>CCA412390831PDHA1c.313G>C (p.Glu105Gln)
c.292G>C (p.Glu98Gln)
c.376G>C (p.Glu126Gln)
c.406G>C (p.Glu136Gln)
n.394G>C
c.427G>C (p.Glu143Gln)
Xg.19351281G>TCA412390833PDHA1c.313G>T (p.Glu105Ter)
c.292G>T (p.Glu98Ter)
c.376G>T (p.Glu126Ter)
c.406G>T (p.Glu136Ter)
n.394G>T
c.427G>T (p.Glu143Ter)
Xg.19351282A>CCA412390836PDHA1c.314A>C (p.Glu105Ala)
c.293A>C (p.Glu98Ala)
c.377A>C (p.Glu126Ala)
c.407A>C (p.Glu136Ala)
n.395A>C
c.428A>C (p.Glu143Ala)
Xg.19351282A>GCA412390837PDHA1c.314A>G (p.Glu105Gly)
c.293A>G (p.Glu98Gly)
c.377A>G (p.Glu126Gly)
c.407A>G (p.Glu136Gly)
n.395A>G
c.428A>G (p.Glu143Gly)
Xg.19351282A>TCA412390839PDHA1c.314A>T (p.Glu105Val)
c.293A>T (p.Glu98Val)
c.377A>T (p.Glu126Val)
c.407A>T (p.Glu136Val)
n.395A>T
c.428A>T (p.Glu143Val)
Xg.19351283A=CA2418222093PDHA1c.315A= (p.Glu105=)
c.294A= (p.Glu98=)
c.378A= (p.Glu126=)
c.408A= (p.Glu136=)
n.396A=
c.429A= (p.Glu143=)
Xg.19351283A>CCA412390843PDHA1c.315A>C (p.Glu105Asp)
c.294A>C (p.Glu98Asp)
c.378A>C (p.Glu126Asp)
c.408A>C (p.Glu136Asp)
n.396A>C
c.429A>C (p.Glu143Asp)
Xg.19351283A>GCA515485502PDHA1c.315A>G (p.Glu105=)
c.294A>G (p.Glu98=)
c.378A>G (p.Glu126=)
c.408A>G (p.Glu136=)
n.396A>G
c.429A>G (p.Glu143=)
 ClinVar dbSNP
Xg.19351283A>TCA412390842PDHA1c.315A>T (p.Glu105Asp)
c.294A>T (p.Glu98Asp)
c.378A>T (p.Glu126Asp)
c.408A>T (p.Glu136Asp)
n.396A>T
c.429A>T (p.Glu143Asp)
Xg.19351284G>ACA412390845PDHA1c.316G>A (p.Ala106Thr)
c.295G>A (p.Ala99Thr)
c.379G>A (p.Ala127Thr)
c.409G>A (p.Ala137Thr)
n.397G>A
c.430G>A (p.Ala144Thr)
Xg.19351284G>CCA412390847PDHA1c.316G>C (p.Ala106Pro)
c.295G>C (p.Ala99Pro)
c.379G>C (p.Ala127Pro)
c.409G>C (p.Ala137Pro)
n.397G>C
c.430G>C (p.Ala144Pro)
Xg.19351284G>TCA412390850PDHA1c.316G>T (p.Ala106Ser)
c.295G>T (p.Ala99Ser)
c.379G>T (p.Ala127Ser)
c.409G>T (p.Ala137Ser)
n.397G>T
c.430G>T (p.Ala144Ser)
Xg.19351285C>ACA412390852PDHA1c.317C>A (p.Ala106Asp)
c.296C>A (p.Ala99Asp)
c.380C>A (p.Ala127Asp)
c.410C>A (p.Ala137Asp)
n.398C>A
c.431C>A (p.Ala144Asp)
Xg.19351285C>GCA412390854PDHA1c.317C>G (p.Ala106Gly)
c.296C>G (p.Ala99Gly)
c.380C>G (p.Ala127Gly)
c.410C>G (p.Ala137Gly)
n.398C>G
c.431C>G (p.Ala144Gly)
Xg.19351285C>TCA412390855PDHA1c.317C>T (p.Ala106Val)
c.296C>T (p.Ala99Val)
c.380C>T (p.Ala127Val)
c.410C>T (p.Ala137Val)
n.398C>T
c.431C>T (p.Ala144Val)
Xg.19351286T>ACA515485503PDHA1c.318T>A (p.Ala106=)
c.297T>A (p.Ala99=)
c.381T>A (p.Ala127=)
c.411T>A (p.Ala137=)
n.399T>A
c.432T>A (p.Ala144=)
Xg.19351286T>CCA515485504PDHA1c.318T>C (p.Ala106=)
c.297T>C (p.Ala99=)
c.381T>C (p.Ala127=)
c.411T>C (p.Ala137=)
n.399T>C
c.432T>C (p.Ala144=)
Xg.19351286T>GCA515485505PDHA1c.318T>G (p.Ala106=)
c.297T>G (p.Ala99=)
c.381T>G (p.Ala127=)
c.411T>G (p.Ala137=)
n.399T>G
c.432T>G (p.Ala144=)
Xg.19351287T>ACA412390862PDHA1c.319T>A (p.Cys107Ser)
c.298T>A (p.Cys100Ser)
c.382T>A (p.Cys128Ser)
c.412T>A (p.Cys138Ser)
n.400T>A
c.433T>A (p.Cys145Ser)
Xg.19351287T>CCA412390859PDHA1c.319T>C (p.Cys107Arg)
c.298T>C (p.Cys100Arg)
c.382T>C (p.Cys128Arg)
c.412T>C (p.Cys138Arg)
n.400T>C
c.433T>C (p.Cys145Arg)
Xg.19351287T>GCA412390860PDHA1c.319T>G (p.Cys107Gly)
c.298T>G (p.Cys100Gly)
c.382T>G (p.Cys128Gly)
c.412T>G (p.Cys138Gly)
n.400T>G
c.433T>G (p.Cys145Gly)
Xg.19351288G>ACA412390864PDHA1c.320G>A (p.Cys107Tyr)
c.299G>A (p.Cys100Tyr)
c.383G>A (p.Cys128Tyr)
c.413G>A (p.Cys138Tyr)
n.401G>A
c.434G>A (p.Cys145Tyr)
Xg.19351288G>CCA412390866PDHA1c.320G>C (p.Cys107Ser)
c.299G>C (p.Cys100Ser)
c.383G>C (p.Cys128Ser)
c.413G>C (p.Cys138Ser)
n.401G>C
c.434G>C (p.Cys145Ser)
Xg.19351288G=CA2418222094PDHA1c.320G= (p.Cys107=)
c.299G= (p.Cys100=)
c.383G= (p.Cys128=)
c.413G= (p.Cys138=)
n.401G=
c.434G= (p.Cys145=)
Xg.19351288G>TCA412390868PDHA1c.320G>T (p.Cys107Phe)
c.299G>T (p.Cys100Phe)
c.383G>T (p.Cys128Phe)
c.413G>T (p.Cys138Phe)
n.401G>T
c.434G>T (p.Cys145Phe)
Xg.19351289C>ACA412390870PDHA1c.321C>A (p.Cys107Ter)
c.300C>A (p.Cys100Ter)
c.384C>A (p.Cys128Ter)
c.414C>A (p.Cys138Ter)
n.402C>A
c.435C>A (p.Cys145Ter)
Xg.19351289C=CA2418222095PDHA1c.321C= (p.Cys107=)
c.300C= (p.Cys100=)
c.384C= (p.Cys128=)
c.414C= (p.Cys138=)
n.402C=
c.435C= (p.Cys145=)
Xg.19351289C>GCA412390872PDHA1c.321C>G (p.Cys107Trp)
c.300C>G (p.Cys100Trp)
c.384C>G (p.Cys128Trp)
c.414C>G (p.Cys138Trp)
n.402C>G
c.435C>G (p.Cys145Trp)
Xg.19351289C>TCA327024437PDHA1c.321C>T (p.Cys107=)
c.300C>T (p.Cys100=)
c.384C>T (p.Cys128=)
c.414C>T (p.Cys138=)
n.402C>T
c.435C>T (p.Cys145=)
 ClinVar dbSNP gnomAD v4
Xg.19351289_19351290dupCA891862974PDHA1c.321_322dup (p.Cys108SerfsTer?)
c.300_301dup (p.Cys101SerfsTer?)
c.384_385dup (p.Cys129SerfsTer?)
c.414_415dup (p.Cys139SerfsTer?)
n.402_403dup
c.435_436dup (p.Cys146SerfsTer?)
 ClinVar dbSNP
Xg.19351290T>ACA412390875PDHA1c.322T>A (p.Cys108Ser)
c.301T>A (p.Cys101Ser)
c.385T>A (p.Cys129Ser)
c.415T>A (p.Cys139Ser)
n.403T>A
c.436T>A (p.Cys146Ser)
Xg.19351290T>CCA412390878PDHA1c.322T>C (p.Cys108Arg)
c.301T>C (p.Cys101Arg)
c.385T>C (p.Cys129Arg)
c.415T>C (p.Cys139Arg)
n.403T>C
c.436T>C (p.Cys146Arg)
Xg.19351290T>GCA412390876PDHA1c.322T>G (p.Cys108Gly)
c.301T>G (p.Cys101Gly)
c.385T>G (p.Cys129Gly)
c.415T>G (p.Cys139Gly)
n.403T>G
c.436T>G (p.Cys146Gly)
Xg.19351291G>ACA412390881PDHA1c.323G>A (p.Cys108Tyr)
c.302G>A (p.Cys101Tyr)
c.386G>A (p.Cys129Tyr)
c.416G>A (p.Cys139Tyr)
n.404G>A
c.437G>A (p.Cys146Tyr)
 COSMIC COSMIC COSMIC COSMIC
Xg.19351291G>CCA412390883PDHA1c.323G>C (p.Cys108Ser)
c.302G>C (p.Cys101Ser)
c.386G>C (p.Cys129Ser)
c.416G>C (p.Cys139Ser)
n.404G>C
c.437G>C (p.Cys146Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.19351291G=CA2418222096PDHA1c.323G= (p.Cys108=)
c.302G= (p.Cys101=)
c.386G= (p.Cys129=)
c.416G= (p.Cys139=)
n.404G=
c.437G= (p.Cys146=)
Xg.19351291G>TCA412390884PDHA1c.323G>T (p.Cys108Phe)
c.302G>T (p.Cys101Phe)
c.386G>T (p.Cys129Phe)
c.416G>T (p.Cys139Phe)
n.404G>T
c.437G>T (p.Cys146Phe)
Xg.19351292T>ACA412390887PDHA1c.324T>A (p.Cys108Ter)
c.303T>A (p.Cys101Ter)
c.387T>A (p.Cys129Ter)
c.417T>A (p.Cys139Ter)
n.405T>A
c.438T>A (p.Cys146Ter)
Xg.19351292T>CCA515485506PDHA1c.324T>C (p.Cys108=)
c.303T>C (p.Cys101=)
c.387T>C (p.Cys129=)
c.417T>C (p.Cys139=)
n.405T>C
c.438T>C (p.Cys146=)
Xg.19351292T>GCA412390889PDHA1c.324T>G (p.Cys108Trp)
c.303T>G (p.Cys101Trp)
c.387T>G (p.Cys129Trp)
c.417T>G (p.Cys139Trp)
n.405T>G
c.438T>G (p.Cys146Trp)
 ClinVar dbSNP
Xg.19351292T=CA2418222097PDHA1c.324T= (p.Cys108=)
c.303T= (p.Cys101=)
c.387T= (p.Cys129=)
c.417T= (p.Cys139=)
n.405T=
c.438T= (p.Cys146=)
Xg.19351293G>ACA412390892PDHA1c.325G>A (p.Val109Met)
c.304G>A (p.Val102Met)
c.388G>A (p.Val130Met)
c.418G>A (p.Val140Met)
n.406G>A
c.439G>A (p.Val147Met)
 dbSNP gnomAD v3 gnomAD v4
Xg.19351293G>CCA412390893PDHA1c.325G>C (p.Val109Leu)
c.304G>C (p.Val102Leu)
c.388G>C (p.Val130Leu)
c.418G>C (p.Val140Leu)
n.406G>C
c.439G>C (p.Val147Leu)
Xg.19351293G=CA2418222098PDHA1c.325G= (p.Val109=)
c.304G= (p.Val102=)
c.388G= (p.Val130=)
c.418G= (p.Val140=)
n.406G=
c.439G= (p.Val147=)
Xg.19351293G>TCA412390896PDHA1c.325G>T (p.Val109Leu)
c.304G>T (p.Val102Leu)
c.388G>T (p.Val130Leu)
c.418G>T (p.Val140Leu)
n.406G>T
c.439G>T (p.Val147Leu)
Xg.19351294T>ACA412390898PDHA1c.326T>A (p.Val109Glu)
c.305T>A (p.Val102Glu)
c.389T>A (p.Val130Glu)
c.419T>A (p.Val140Glu)
n.407T>A
c.440T>A (p.Val147Glu)
Xg.19351294T>CCA412390900PDHA1c.326T>C (p.Val109Ala)
c.305T>C (p.Val102Ala)
c.389T>C (p.Val130Ala)
c.419T>C (p.Val140Ala)
n.407T>C
c.440T>C (p.Val147Ala)
Xg.19351294T>GCA412390902PDHA1c.326T>G (p.Val109Gly)
c.305T>G (p.Val102Gly)
c.389T>G (p.Val130Gly)
c.419T>G (p.Val140Gly)
n.407T>G
c.440T>G (p.Val147Gly)
Xg.19351295G>ACA515485507PDHA1c.327G>A (p.Val109=)
c.306G>A (p.Val102=)
c.390G>A (p.Val130=)
c.420G>A (p.Val140=)
n.408G>A
c.441G>A (p.Val147=)
Xg.19351295G>CCA515485508PDHA1c.327G>C (p.Val109=)
c.306G>C (p.Val102=)
c.390G>C (p.Val130=)
c.420G>C (p.Val140=)
n.408G>C
c.441G>C (p.Val147=)
Xg.19351295G=CA2418222099PDHA1c.327G= (p.Val109=)
c.306G= (p.Val102=)
c.390G= (p.Val130=)
c.420G= (p.Val140=)
n.408G=
c.441G= (p.Val147=)
Xg.19351295G>TCA515485509PDHA1c.327G>T (p.Val109=)
c.306G>T (p.Val102=)
c.390G>T (p.Val130=)
c.420G>T (p.Val140=)
n.408G>T
c.441G>T (p.Val147=)
 ClinVar dbSNP
Xg.19351297dupCA2579566221PDHA1c.329dup (p.Leu111ProfsTer?)
c.308dup (p.Leu104ProfsTer?)
c.392dup (p.Leu132ProfsTer?)
c.422dup (p.Leu142ProfsTer?)
n.410dup
c.443dup (p.Leu149ProfsTer?)
Xg.19351296G>ACA412390904PDHA1c.328G>A (p.Gly110Ser)
c.307G>A (p.Gly103Ser)
c.391G>A (p.Gly131Ser)
c.421G>A (p.Gly141Ser)
n.409G>A
c.442G>A (p.Gly148Ser)
Xg.19351296G>CCA412390908PDHA1c.328G>C (p.Gly110Arg)
c.307G>C (p.Gly103Arg)
c.391G>C (p.Gly131Arg)
c.421G>C (p.Gly141Arg)
n.409G>C
c.442G>C (p.Gly148Arg)
Xg.19351296G>TCA412390906PDHA1c.328G>T (p.Gly110Cys)
c.307G>T (p.Gly103Cys)
c.391G>T (p.Gly131Cys)
c.421G>T (p.Gly141Cys)
n.409G>T
c.442G>T (p.Gly148Cys)
Xg.19351297G>ACA412390910PDHA1c.329G>A (p.Gly110Asp)
c.308G>A (p.Gly103Asp)
c.392G>A (p.Gly131Asp)
c.422G>A (p.Gly141Asp)
n.410G>A
c.443G>A (p.Gly148Asp)
Xg.19351297G>CCA412390914PDHA1c.329G>C (p.Gly110Ala)
c.308G>C (p.Gly103Ala)
c.392G>C (p.Gly131Ala)
c.422G>C (p.Gly141Ala)
n.410G>C
c.443G>C (p.Gly148Ala)
Xg.19351297G>TCA412390912PDHA1c.329G>T (p.Gly110Val)
c.308G>T (p.Gly103Val)
c.392G>T (p.Gly131Val)
c.422G>T (p.Gly141Val)
n.410G>T
c.443G>T (p.Gly148Val)
Xg.19351298C>ACA515485510PDHA1c.330C>A (p.Gly110=)
c.309C>A (p.Gly103=)
c.393C>A (p.Gly131=)
c.423C>A (p.Gly141=)
n.411C>A
c.444C>A (p.Gly148=)
Xg.19351298C>GCA515485511PDHA1c.330C>G (p.Gly110=)
c.309C>G (p.Gly103=)
c.393C>G (p.Gly131=)
c.423C>G (p.Gly141=)
n.411C>G
c.444C>G (p.Gly148=)
Xg.19351298C>TCA515485512PDHA1c.330C>T (p.Gly110=)
c.309C>T (p.Gly103=)
c.393C>T (p.Gly131=)
c.423C>T (p.Gly141=)
n.411C>T
c.444C>T (p.Gly148=)
Xg.19351299delCA2579566222PDHA1c.331del (p.Leu111TrpfsTer?)
c.310del (p.Leu104TrpfsTer?)
c.394del (p.Leu132TrpfsTer?)
c.424del (p.Leu142TrpfsTer?)
n.412del
c.445del (p.Leu149TrpfsTer?)
Xg.19351299C>ACA412390916PDHA1c.331C>A (p.Leu111Met)
c.310C>A (p.Leu104Met)
c.394C>A (p.Leu132Met)
c.424C>A (p.Leu142Met)
n.412C>A
c.445C>A (p.Leu149Met)
Xg.19351299C=CA2418222100PDHA1c.331C= (p.Leu111=)
c.310C= (p.Leu104=)
c.394C= (p.Leu132=)
c.424C= (p.Leu142=)
n.412C=
c.445C= (p.Leu149=)
Xg.19351299C>GCA412390918PDHA1c.331C>G (p.Leu111Val)
c.310C>G (p.Leu104Val)
c.394C>G (p.Leu132Val)
c.424C>G (p.Leu142Val)
n.412C>G
c.445C>G (p.Leu149Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.19351299C>TCA515485513PDHA1c.331C>T (p.Leu111=)
c.310C>T (p.Leu104=)
c.394C>T (p.Leu132=)
c.424C>T (p.Leu142=)
n.412C>T
c.445C>T (p.Leu149=)
Xg.19351300T>ACA412390920PDHA1c.332T>A (p.Leu111Gln)
c.311T>A (p.Leu104Gln)
c.395T>A (p.Leu132Gln)
c.425T>A (p.Leu142Gln)
n.413T>A
c.446T>A (p.Leu149Gln)
Xg.19351300T>CCA302973PDHA1c.332T>C (p.Leu111Pro)
c.311T>C (p.Leu104Pro)
c.395T>C (p.Leu132Pro)
c.425T>C (p.Leu142Pro)
n.413T>C
c.446T>C (p.Leu149Pro)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.19351300T>GCA412390922PDHA1c.332T>G (p.Leu111Arg)
c.311T>G (p.Leu104Arg)
c.395T>G (p.Leu132Arg)
c.425T>G (p.Leu142Arg)
n.413T>G
c.446T>G (p.Leu149Arg)
Xg.19351300T=CA2418222101PDHA1c.332T= (p.Leu111=)
c.311T= (p.Leu104=)
c.395T= (p.Leu132=)
c.425T= (p.Leu142=)
n.413T=
c.446T= (p.Leu149=)
Xg.19351301G>ACA515485516PDHA1c.333G>A (p.Leu111=)
c.312G>A (p.Leu104=)
c.396G>A (p.Leu132=)
c.426G>A (p.Leu142=)
n.414G>A
c.447G>A (p.Leu149=)
 gnomAD v4
Xg.19351301G>CCA515485515PDHA1c.333G>C (p.Leu111=)
c.312G>C (p.Leu104=)
c.396G>C (p.Leu132=)
c.426G>C (p.Leu142=)
n.414G>C
c.447G>C (p.Leu149=)
Xg.19351301G>TCA515485514PDHA1c.333G>T (p.Leu111=)
c.312G>T (p.Leu104=)
c.396G>T (p.Leu132=)
c.426G>T (p.Leu142=)
n.414G>T
c.447G>T (p.Leu149=)
Xg.19351302G>ACA412390925PDHA1c.334G>A (p.Glu112Lys)
c.313G>A (p.Glu105Lys)
c.397G>A (p.Glu133Lys)
c.427G>A (p.Glu143Lys)
n.415G>A
c.448G>A (p.Glu150Lys)
Xg.19351302G>CCA412390927PDHA1c.334G>C (p.Glu112Gln)
c.313G>C (p.Glu105Gln)
c.397G>C (p.Glu133Gln)
c.427G>C (p.Glu143Gln)
n.415G>C
c.448G>C (p.Glu150Gln)
Xg.19351302G>TCA412390929PDHA1c.334G>T (p.Glu112Ter)
c.313G>T (p.Glu105Ter)
c.397G>T (p.Glu133Ter)
c.427G>T (p.Glu143Ter)
n.415G>T
c.448G>T (p.Glu150Ter)
Xg.19351303A>CCA412390932PDHA1c.335A>C (p.Glu112Ala)
c.314A>C (p.Glu105Ala)
c.398A>C (p.Glu133Ala)
c.428A>C (p.Glu143Ala)
n.416A>C
c.449A>C (p.Glu150Ala)
Xg.19351303A>GCA412390934PDHA1c.335A>G (p.Glu112Gly)
c.314A>G (p.Glu105Gly)
c.398A>G (p.Glu133Gly)
c.428A>G (p.Glu143Gly)
n.416A>G
c.449A>G (p.Glu150Gly)
Xg.19351303A>TCA412390935PDHA1c.335A>T (p.Glu112Val)
c.314A>T (p.Glu105Val)
c.398A>T (p.Glu133Val)
c.428A>T (p.Glu143Val)
n.416A>T
c.449A>T (p.Glu150Val)
Xg.19351304G>ACA515485517PDHA1c.336G>A (p.Glu112=)
c.315G>A (p.Glu105=)
c.399G>A (p.Glu133=)
c.429G>A (p.Glu143=)
n.417G>A
c.450G>A (p.Glu150=)
Xg.19351304G>CCA412390938PDHA1c.336G>C (p.Glu112Asp)
c.315G>C (p.Glu105Asp)
c.399G>C (p.Glu133Asp)
c.429G>C (p.Glu143Asp)
n.417G>C
c.450G>C (p.Glu150Asp)
Xg.19351304G>TCA412390940PDHA1c.336G>T (p.Glu112Asp)
c.315G>T (p.Glu105Asp)
c.399G>T (p.Glu133Asp)
c.429G>T (p.Glu143Asp)
n.417G>T
c.450G>T (p.Glu150Asp)
Xg.19351305G>ACA412390942PDHA1c.337G>A (p.Ala113Thr)
c.316G>A (p.Ala106Thr)
c.400G>A (p.Ala134Thr)
c.430G>A (p.Ala144Thr)
n.418G>A
c.451G>A (p.Ala151Thr)
 gnomAD v4
Xg.19351305G>CCA412390945PDHA1c.337G>C (p.Ala113Pro)
c.316G>C (p.Ala106Pro)
c.400G>C (p.Ala134Pro)
c.430G>C (p.Ala144Pro)
n.418G>C
c.451G>C (p.Ala151Pro)
Xg.19351305G>TCA412390944PDHA1c.337G>T (p.Ala113Ser)
c.316G>T (p.Ala106Ser)
c.400G>T (p.Ala134Ser)
c.430G>T (p.Ala144Ser)
n.418G>T
c.451G>T (p.Ala151Ser)
Xg.19351306C>ACA412390948PDHA1c.338C>A (p.Ala113Asp)
c.317C>A (p.Ala106Asp)
c.401C>A (p.Ala134Asp)
c.431C>A (p.Ala144Asp)
n.419C>A
c.452C>A (p.Ala151Asp)
Xg.19351306C>GCA412390950PDHA1c.338C>G (p.Ala113Gly)
c.317C>G (p.Ala106Gly)
c.401C>G (p.Ala134Gly)
c.431C>G (p.Ala144Gly)
n.419C>G
c.452C>G (p.Ala151Gly)
Xg.19351306C>TCA412390951PDHA1c.338C>T (p.Ala113Val)
c.317C>T (p.Ala106Val)
c.401C>T (p.Ala134Val)
c.431C>T (p.Ala144Val)
n.419C>T
c.452C>T (p.Ala151Val)
 gnomAD v4
Xg.19351307C>ACA515485518PDHA1c.339C>A (p.Ala113=)
c.318C>A (p.Ala106=)
c.402C>A (p.Ala134=)
c.432C>A (p.Ala144=)
n.420C>A
c.453C>A (p.Ala151=)
Xg.19351307C=CA2418222102PDHA1c.339C= (p.Ala113=)
c.318C= (p.Ala106=)
c.402C= (p.Ala134=)
c.432C= (p.Ala144=)
n.420C=
c.453C= (p.Ala151=)
Xg.19351307C>GCA515485519PDHA1c.339C>G (p.Ala113=)
c.318C>G (p.Ala106=)
c.402C>G (p.Ala134=)
c.432C>G (p.Ala144=)
n.420C>G
c.453C>G (p.Ala151=)
 gnomAD v4
Xg.19351307C>TCA327024456PDHA1c.339C>T (p.Ala113=)
c.318C>T (p.Ala106=)
c.402C>T (p.Ala134=)
c.432C>T (p.Ala144=)
n.420C>T
c.453C>T (p.Ala151=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.19351308G>ACA10363023PDHA1c.340G>A (p.Gly114Ser)
c.319G>A (p.Gly107Ser)
c.403G>A (p.Gly135Ser)
c.433G>A (p.Gly145Ser)
n.421G>A
c.454G>A (p.Gly152Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19351308G>CCA412390957PDHA1c.340G>C (p.Gly114Arg)
c.319G>C (p.Gly107Arg)
c.403G>C (p.Gly135Arg)
c.433G>C (p.Gly145Arg)
n.421G>C
c.454G>C (p.Gly152Arg)
Xg.19351308G=CA2418222103PDHA1c.340G= (p.Gly114=)
c.319G= (p.Gly107=)
c.403G= (p.Gly135=)
c.433G= (p.Gly145=)
n.421G=
c.454G= (p.Gly152=)
Xg.19351308G>TCA412390959PDHA1c.340G>T (p.Gly114Cys)
c.319G>T (p.Gly107Cys)
c.403G>T (p.Gly135Cys)
c.433G>T (p.Gly145Cys)
n.421G>T
c.454G>T (p.Gly152Cys)
Xg.19351309G>ACA327024475PDHA1c.341G>A (p.Gly114Asp)
c.320G>A (p.Gly107Asp)
c.404G>A (p.Gly135Asp)
c.434G>A (p.Gly145Asp)
n.422G>A
c.455G>A (p.Gly152Asp)
 dbSNP COSMIC COSMIC COSMIC COSMIC
Xg.19351309G>CCA412390962PDHA1c.341G>C (p.Gly114Ala)
c.320G>C (p.Gly107Ala)
c.404G>C (p.Gly135Ala)
c.434G>C (p.Gly145Ala)
n.422G>C
c.455G>C (p.Gly152Ala)
Xg.19351309G=CA2418222104PDHA1c.341G= (p.Gly114=)
c.320G= (p.Gly107=)
c.404G= (p.Gly135=)
c.434G= (p.Gly145=)
n.422G=
c.455G= (p.Gly152=)
Xg.19351309G>TCA412390964PDHA1c.341G>T (p.Gly114Val)
c.320G>T (p.Gly107Val)
c.404G>T (p.Gly135Val)
c.434G>T (p.Gly145Val)
n.422G>T
c.455G>T (p.Gly152Val)
Xg.19351310C>ACA515485520PDHA1c.342C>A (p.Gly114=)
c.321C>A (p.Gly107=)
c.405C>A (p.Gly135=)
c.435C>A (p.Gly145=)
n.423C>A
c.456C>A (p.Gly152=)
Xg.19351310C>GCA515485521PDHA1c.342C>G (p.Gly114=)
c.321C>G (p.Gly107=)
c.405C>G (p.Gly135=)
c.435C>G (p.Gly145=)
n.423C>G
c.456C>G (p.Gly152=)
Xg.19351310C>TCA515485522PDHA1c.342C>T (p.Gly114=)
c.321C>T (p.Gly107=)
c.405C>T (p.Gly135=)
c.435C>T (p.Gly145=)
n.423C>T
c.456C>T (p.Gly152=)
 ClinVar
Xg.19351311A>CCA412390969PDHA1c.343A>C (p.Ile115Leu)
c.322A>C (p.Ile108Leu)
c.406A>C (p.Ile136Leu)
c.436A>C (p.Ile146Leu)
n.424A>C
c.457A>C (p.Ile153Leu)
Xg.19351311A>GCA412390968PDHA1c.343A>G (p.Ile115Val)
c.322A>G (p.Ile108Val)
c.406A>G (p.Ile136Val)
c.436A>G (p.Ile146Val)
n.424A>G
c.457A>G (p.Ile153Val)
Xg.19351311A>TCA412390966PDHA1c.343A>T (p.Ile115Phe)
c.322A>T (p.Ile108Phe)
c.406A>T (p.Ile136Phe)
c.436A>T (p.Ile146Phe)
n.424A>T
c.457A>T (p.Ile153Phe)
Xg.19351312T>ACA412390972PDHA1c.344T>A (p.Ile115Asn)
c.323T>A (p.Ile108Asn)
c.407T>A (p.Ile136Asn)
c.437T>A (p.Ile146Asn)
n.425T>A
c.458T>A (p.Ile153Asn)
Xg.19351312T>CCA412390970PDHA1c.344T>C (p.Ile115Thr)
c.323T>C (p.Ile108Thr)
c.407T>C (p.Ile136Thr)
c.437T>C (p.Ile146Thr)
n.425T>C
c.458T>C (p.Ile153Thr)
Xg.19351312T>GCA412390971PDHA1c.344T>G (p.Ile115Ser)
c.323T>G (p.Ile108Ser)
c.407T>G (p.Ile136Ser)
c.437T>G (p.Ile146Ser)
n.425T>G
c.458T>G (p.Ile153Ser)
Xg.19351313C>ACA515485523PDHA1c.345C>A (p.Ile115=)
c.324C>A (p.Ile108=)
c.408C>A (p.Ile136=)
c.438C>A (p.Ile146=)
n.426C>A
c.459C>A (p.Ile153=)
Xg.19351313C=CA2418222105PDHA1c.345C= (p.Ile115=)
c.324C= (p.Ile108=)
c.408C= (p.Ile136=)
c.438C= (p.Ile146=)
n.426C=
c.459C= (p.Ile153=)
Xg.19351313C>GCA412390973PDHA1c.345C>G (p.Ile115Met)
c.324C>G (p.Ile108Met)
c.408C>G (p.Ile136Met)
c.438C>G (p.Ile146Met)
n.426C>G
c.459C>G (p.Ile153Met)
Xg.19351313C>TCA327024477PDHA1c.345C>T (p.Ile115=)
c.324C>T (p.Ile108=)
c.408C>T (p.Ile136=)
c.438C>T (p.Ile146=)
n.426C>T
c.459C>T (p.Ile153=)
 dbSNP gnomAD v4
Xg.19351314A>CCA412390974PDHA1c.346A>C (p.Asn116His)
c.325A>C (p.Asn109His)
c.409A>C (p.Asn137His)
c.439A>C (p.Asn147His)
n.427A>C
c.460A>C (p.Asn154His)
Xg.19351314A>GCA412390975PDHA1c.346A>G (p.Asn116Asp)
c.325A>G (p.Asn109Asp)
c.409A>G (p.Asn137Asp)
c.439A>G (p.Asn147Asp)
n.427A>G
c.460A>G (p.Asn154Asp)
Xg.19351314A>TCA412390976PDHA1c.346A>T (p.Asn116Tyr)
c.325A>T (p.Asn109Tyr)
c.409A>T (p.Asn137Tyr)
c.439A>T (p.Asn147Tyr)
n.427A>T
c.460A>T (p.Asn154Tyr)
Xg.19351315A>CCA412390977PDHA1c.347A>C (p.Asn116Thr)
c.326A>C (p.Asn109Thr)
c.410A>C (p.Asn137Thr)
c.440A>C (p.Asn147Thr)
n.428A>C
c.461A>C (p.Asn154Thr)
Xg.19351315A>GCA412390978PDHA1c.347A>G (p.Asn116Ser)
c.326A>G (p.Asn109Ser)
c.410A>G (p.Asn137Ser)
c.440A>G (p.Asn147Ser)
n.428A>G
c.461A>G (p.Asn154Ser)
Xg.19351315A>TCA412390979PDHA1c.347A>T (p.Asn116Ile)
c.326A>T (p.Asn109Ile)
c.410A>T (p.Asn137Ile)
c.440A>T (p.Asn147Ile)
n.428A>T
c.461A>T (p.Asn154Ile)
Xg.19351316C>ACA412390980PDHA1c.348C>A (p.Asn116Lys)
c.327C>A (p.Asn109Lys)
c.411C>A (p.Asn137Lys)
c.441C>A (p.Asn147Lys)
n.429C>A
c.462C>A (p.Asn154Lys)
Xg.19351316C=CA2418222106PDHA1c.348C= (p.Asn116=)
c.327C= (p.Asn109=)
c.411C= (p.Asn137=)
c.441C= (p.Asn147=)
n.429C=
c.462C= (p.Asn154=)
Xg.19351316C>GCA412390981PDHA1c.348C>G (p.Asn116Lys)
c.327C>G (p.Asn109Lys)
c.411C>G (p.Asn137Lys)
c.441C>G (p.Asn147Lys)
n.429C>G
c.462C>G (p.Asn154Lys)
Xg.19351316C>TCA10363024PDHA1c.348C>T (p.Asn116=)
c.327C>T (p.Asn109=)
c.411C>T (p.Asn137=)
c.441C>T (p.Asn147=)
n.429C>T
c.462C>T (p.Asn154=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19351316_19351317insAGACA658794193PDHA1c.348_349insAGA (p.Asn116_Pro117insArg)
c.327_328insAGA (p.Asn109_Pro110insArg)
c.411_412insAGA (p.Asn137_Pro138insArg)
c.441_442insAGA (p.Asn147_Pro148insArg)
n.429_430insAGA
c.462_463insAGA (p.Asn154_Pro155insArg)
Xg.19351317C>ACA412390984PDHA1c.349C>A (p.Pro117Thr)
c.328C>A (p.Pro110Thr)
c.412C>A (p.Pro138Thr)
c.442C>A (p.Pro148Thr)
n.430C>A
c.463C>A (p.Pro155Thr)
Xg.19351317C>GCA412390982PDHA1c.349C>G (p.Pro117Ala)
c.328C>G (p.Pro110Ala)
c.412C>G (p.Pro138Ala)
c.442C>G (p.Pro148Ala)
n.430C>G
c.463C>G (p.Pro155Ala)
 ClinVar gnomAD v4
Xg.19351317C>TCA412390983PDHA1c.349C>T (p.Pro117Ser)
c.328C>T (p.Pro110Ser)
c.412C>T (p.Pro138Ser)
c.442C>T (p.Pro148Ser)
n.430C>T
c.463C>T (p.Pro155Ser)
 gnomAD v4
Xg.19351317delinsAGACA2695223229PDHA1c.349delinsAGA (p.Pro117ArgfsTer?)
c.328delinsAGA (p.Pro110ArgfsTer?)
c.412delinsAGA (p.Pro138ArgfsTer?)
c.442delinsAGA (p.Pro148ArgfsTer?)
n.430delinsAGA
c.463delinsAGA (p.Pro155ArgfsTer?)
Xg.19351318C>ACA412390985PDHA1c.350C>A (p.Pro117His)
c.329C>A (p.Pro110His)
c.413C>A (p.Pro138His)
c.443C>A (p.Pro148His)
n.431C>A
c.464C>A (p.Pro155His)
Xg.19351318C>GCA412390986PDHA1c.350C>G (p.Pro117Arg)
c.329C>G (p.Pro110Arg)
c.413C>G (p.Pro138Arg)
c.443C>G (p.Pro148Arg)
n.431C>G
c.464C>G (p.Pro155Arg)
Xg.19351318C>TCA412390987PDHA1c.350C>T (p.Pro117Leu)
c.329C>T (p.Pro110Leu)
c.413C>T (p.Pro138Leu)
c.443C>T (p.Pro148Leu)
n.431C>T
c.464C>T (p.Pro155Leu)
Xg.19351319C>ACA515485524PDHA1c.351C>A (p.Pro117=)
c.330C>A (p.Pro110=)
c.414C>A (p.Pro138=)
c.444C>A (p.Pro148=)
n.432C>A
c.465C>A (p.Pro155=)
Xg.19351319C>GCA515485525PDHA1c.351C>G (p.Pro117=)
c.330C>G (p.Pro110=)
c.414C>G (p.Pro138=)
c.444C>G (p.Pro148=)
n.432C>G
c.465C>G (p.Pro155=)
Xg.19351319C>TCA515485526PDHA1c.351C>T (p.Pro117=)
c.330C>T (p.Pro110=)
c.414C>T (p.Pro138=)
c.444C>T (p.Pro148=)
n.432C>T
c.465C>T (p.Pro155=)
 ClinVar dbSNP
Xg.19351324_19351338delCA2580100428PDHA1c.356_370del (p.Asp119_Thr123del)
c.335_349del (p.Asp112_Thr116del)
c.419_433del (p.Asp140_Thr144del)
c.449_463del (p.Asp150_Thr154del)
n.437_451del
c.470_484del (p.Asp157_Thr161del)
 ClinVar
Xg.19351320A>CCA412390988PDHA1c.352A>C (p.Thr118Pro)
c.331A>C (p.Thr111Pro)
c.415A>C (p.Thr139Pro)
c.445A>C (p.Thr149Pro)
n.433A>C
c.466A>C (p.Thr156Pro)
Xg.19351320A>GCA412390990PDHA1c.352A>G (p.Thr118Ala)
c.331A>G (p.Thr111Ala)
c.415A>G (p.Thr139Ala)
c.445A>G (p.Thr149Ala)
n.433A>G
c.466A>G (p.Thr156Ala)
Xg.19351320A>TCA412390993PDHA1c.352A>T (p.Thr118Ser)
c.331A>T (p.Thr111Ser)
c.415A>T (p.Thr139Ser)
c.445A>T (p.Thr149Ser)
n.433A>T
c.466A>T (p.Thr156Ser)
Xg.19351321C>ACA412390995PDHA1c.353C>A (p.Thr118Lys)
c.332C>A (p.Thr111Lys)
c.416C>A (p.Thr139Lys)
c.446C>A (p.Thr149Lys)
n.434C>A
c.467C>A (p.Thr156Lys)
Xg.19351321C>GCA412390997PDHA1c.353C>G (p.Thr118Arg)
c.332C>G (p.Thr111Arg)
c.416C>G (p.Thr139Arg)
c.446C>G (p.Thr149Arg)
n.434C>G
c.467C>G (p.Thr156Arg)
 gnomAD v4
Xg.19351321C>TCA412390999PDHA1c.353C>T (p.Thr118Ile)
c.332C>T (p.Thr111Ile)
c.416C>T (p.Thr139Ile)
c.446C>T (p.Thr149Ile)
n.434C>T
c.467C>T (p.Thr156Ile)
Xg.19351322A=CA2418222107PDHA1c.354A= (p.Thr118=)
c.333A= (p.Thr111=)
c.417A= (p.Thr139=)
c.447A= (p.Thr149=)
n.435A=
c.468A= (p.Thr156=)
Xg.19351322A>CCA515485529PDHA1c.354A>C (p.Thr118=)
c.333A>C (p.Thr111=)
c.417A>C (p.Thr139=)
c.447A>C (p.Thr149=)
n.435A>C
c.468A>C (p.Thr156=)
 COSMIC COSMIC COSMIC COSMIC
Xg.19351322A>GCA515485527PDHA1c.354A>G (p.Thr118=)
c.333A>G (p.Thr111=)
c.417A>G (p.Thr139=)
c.447A>G (p.Thr149=)
n.435A>G
c.468A>G (p.Thr156=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.19351322A>TCA515485528PDHA1c.354A>T (p.Thr118=)
c.333A>T (p.Thr111=)
c.417A>T (p.Thr139=)
c.447A>T (p.Thr149=)
n.435A>T
c.468A>T (p.Thr156=)
Xg.19351323G>ACA412391001PDHA1c.355G>A (p.Asp119Asn)
c.334G>A (p.Asp112Asn)
c.418G>A (p.Asp140Asn)
c.448G>A (p.Asp150Asn)
n.436G>A
c.469G>A (p.Asp157Asn)
Xg.19351323G>CCA412391003PDHA1c.355G>C (p.Asp119His)
c.334G>C (p.Asp112His)
c.418G>C (p.Asp140His)
c.448G>C (p.Asp150His)
n.436G>C
c.469G>C (p.Asp157His)
Xg.19351323G>TCA412391005PDHA1c.355G>T (p.Asp119Tyr)
c.334G>T (p.Asp112Tyr)
c.418G>T (p.Asp140Tyr)
c.448G>T (p.Asp150Tyr)
n.436G>T
c.469G>T (p.Asp157Tyr)
Xg.19351324A>CCA412391008PDHA1c.356A>C (p.Asp119Ala)
c.335A>C (p.Asp112Ala)
c.419A>C (p.Asp140Ala)
c.449A>C (p.Asp150Ala)
n.437A>C
c.470A>C (p.Asp157Ala)
Xg.19351324A>GCA412391010PDHA1c.356A>G (p.Asp119Gly)
c.335A>G (p.Asp112Gly)
c.419A>G (p.Asp140Gly)
c.449A>G (p.Asp150Gly)
n.437A>G
c.470A>G (p.Asp157Gly)
Xg.19351324A>TCA412391006PDHA1c.356A>T (p.Asp119Val)
c.335A>T (p.Asp112Val)
c.419A>T (p.Asp140Val)
c.449A>T (p.Asp150Val)
n.437A>T
c.470A>T (p.Asp157Val)
Xg.19351325C>ACA412391012PDHA1c.357C>A (p.Asp119Glu)
c.336C>A (p.Asp112Glu)
c.420C>A (p.Asp140Glu)
c.450C>A (p.Asp150Glu)
n.438C>A
c.471C>A (p.Asp157Glu)
Xg.19351325C=CA2418222108PDHA1c.357C= (p.Asp119=)
c.336C= (p.Asp112=)
c.420C= (p.Asp140=)
c.450C= (p.Asp150=)
n.438C=
c.471C= (p.Asp157=)
Xg.19351325C>GCA412391013PDHA1c.357C>G (p.Asp119Glu)
c.336C>G (p.Asp112Glu)
c.420C>G (p.Asp140Glu)
c.450C>G (p.Asp150Glu)
n.438C>G
c.471C>G (p.Asp157Glu)
Xg.19351325C>TCA515485530PDHA1c.357C>T (p.Asp119=)
c.336C>T (p.Asp112=)
c.420C>T (p.Asp140=)
c.450C>T (p.Asp150=)
n.438C>T
c.471C>T (p.Asp157=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.19351326C>ACA412391016PDHA1c.358C>A (p.His120Asn)
c.337C>A (p.His113Asn)
c.421C>A (p.His141Asn)
c.451C>A (p.His151Asn)
n.439C>A
c.472C>A (p.His158Asn)
Xg.19351326C=CA2418222109PDHA1c.358C= (p.His120=)
c.337C= (p.His113=)
c.421C= (p.His141=)
c.451C= (p.His151=)
n.439C=
c.472C= (p.His158=)
Xg.19351326C>GCA412391018PDHA1c.358C>G (p.His120Asp)
c.337C>G (p.His113Asp)
c.421C>G (p.His141Asp)
c.451C>G (p.His151Asp)
n.439C>G
c.472C>G (p.His158Asp)
Xg.19351326C>TCA327024480PDHA1c.358C>T (p.His120Tyr)
c.337C>T (p.His113Tyr)
c.421C>T (p.His141Tyr)
c.451C>T (p.His151Tyr)
n.439C>T
c.472C>T (p.His158Tyr)
 dbSNP
Xg.19351330_19351334delCA2579566223PDHA1c.362_366del (p.Leu121HisfsTer?)
c.341_345del (p.Leu114HisfsTer?)
c.425_429del (p.Leu142HisfsTer?)
c.455_459del (p.Leu152HisfsTer?)
n.443_447del
c.476_480del (p.Leu159HisfsTer?)
Xg.19351327A=CA2418222110PDHA1c.359A= (p.His120=)
c.338A= (p.His113=)
c.422A= (p.His141=)
c.452A= (p.His151=)
n.440A=
c.473A= (p.His158=)
Xg.19351327A>CCA412391022PDHA1c.359A>C (p.His120Pro)
c.338A>C (p.His113Pro)
c.422A>C (p.His141Pro)
c.452A>C (p.His151Pro)
n.440A>C
c.473A>C (p.His158Pro)
Xg.19351327A>GCA10363025PDHA1c.359A>G (p.His120Arg)
c.338A>G (p.His113Arg)
c.422A>G (p.His141Arg)
c.452A>G (p.His151Arg)
n.440A>G
c.473A>G (p.His158Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19351327A>TCA412391025PDHA1c.359A>T (p.His120Leu)
c.338A>T (p.His113Leu)
c.422A>T (p.His141Leu)
c.452A>T (p.His151Leu)
n.440A>T
c.473A>T (p.His158Leu)
Xg.19351328T>ACA412391027PDHA1c.360T>A (p.His120Gln)
c.339T>A (p.His113Gln)
c.423T>A (p.His141Gln)
c.453T>A (p.His151Gln)
n.441T>A
c.474T>A (p.His158Gln)
Xg.19351328T>CCA515485531PDHA1c.360T>C (p.His120=)
c.339T>C (p.His113=)
c.423T>C (p.His141=)
c.453T>C (p.His151=)
n.441T>C
c.474T>C (p.His158=)
 gnomAD v4
Xg.19351328T>GCA412391028PDHA1c.360T>G (p.His120Gln)
c.339T>G (p.His113Gln)
c.423T>G (p.His141Gln)
c.453T>G (p.His151Gln)
n.441T>G
c.474T>G (p.His158Gln)
Xg.19351329C>ACA412391032PDHA1c.361C>A (p.Leu121Ile)
c.340C>A (p.Leu114Ile)
c.424C>A (p.Leu142Ile)
c.454C>A (p.Leu152Ile)
n.442C>A
c.475C>A (p.Leu159Ile)
Xg.19351329C>GCA412391033PDHA1c.361C>G (p.Leu121Val)
c.340C>G (p.Leu114Val)
c.424C>G (p.Leu142Val)
c.454C>G (p.Leu152Val)
n.442C>G
c.475C>G (p.Leu159Val)
 COSMIC COSMIC COSMIC COSMIC
Xg.19351329C>TCA412391034PDHA1c.361C>T (p.Leu121Phe)
c.340C>T (p.Leu114Phe)
c.424C>T (p.Leu142Phe)
c.454C>T (p.Leu152Phe)
n.442C>T
c.475C>T (p.Leu159Phe)
Xg.19351330T>ACA412391040PDHA1c.362T>A (p.Leu121His)
c.341T>A (p.Leu114His)
c.425T>A (p.Leu142His)
c.455T>A (p.Leu152His)
n.443T>A
c.476T>A (p.Leu159His)
Xg.19351330T>CCA412391039PDHA1c.362T>C (p.Leu121Pro)
c.341T>C (p.Leu114Pro)
c.425T>C (p.Leu142Pro)
c.455T>C (p.Leu152Pro)
n.443T>C
c.476T>C (p.Leu159Pro)
Xg.19351330T>GCA412391037PDHA1c.362T>G (p.Leu121Arg)
c.341T>G (p.Leu114Arg)
c.425T>G (p.Leu142Arg)
c.455T>G (p.Leu152Arg)
n.443T>G
c.476T>G (p.Leu159Arg)
Xg.19351331C>ACA515485532PDHA1c.363C>A (p.Leu121=)
c.342C>A (p.Leu114=)
c.426C>A (p.Leu142=)
c.456C>A (p.Leu152=)
n.444C>A
c.477C>A (p.Leu159=)
Xg.19351331C>GCA515485533PDHA1c.363C>G (p.Leu121=)
c.342C>G (p.Leu114=)
c.426C>G (p.Leu142=)
c.456C>G (p.Leu152=)
n.444C>G
c.477C>G (p.Leu159=)
Xg.19351331C>TCA515485534PDHA1c.363C>T (p.Leu121=)
c.342C>T (p.Leu114=)
c.426C>T (p.Leu142=)
c.456C>T (p.Leu152=)
n.444C>T
c.477C>T (p.Leu159=)
 gnomAD v4
Xg.19351332A>CCA412391043PDHA1c.364A>C (p.Ile122Leu)
c.343A>C (p.Ile115Leu)
c.427A>C (p.Ile143Leu)
c.457A>C (p.Ile153Leu)
n.445A>C
c.478A>C (p.Ile160Leu)
 gnomAD v4
Xg.19351332A>GCA412391045PDHA1c.364A>G (p.Ile122Val)
c.343A>G (p.Ile115Val)
c.427A>G (p.Ile143Val)
c.457A>G (p.Ile153Val)
n.445A>G
c.478A>G (p.Ile160Val)
Xg.19351332A>TCA412391047PDHA1c.364A>T (p.Ile122Phe)
c.343A>T (p.Ile115Phe)
c.427A>T (p.Ile143Phe)
c.457A>T (p.Ile153Phe)
n.445A>T
c.478A>T (p.Ile160Phe)
Xg.19351333T>ACA412391049PDHA1c.365T>A (p.Ile122Asn)
c.344T>A (p.Ile115Asn)
c.428T>A (p.Ile143Asn)
c.458T>A (p.Ile153Asn)
n.446T>A
c.479T>A (p.Ile160Asn)
Xg.19351333T>CCA412391051PDHA1c.365T>C (p.Ile122Thr)
c.344T>C (p.Ile115Thr)
c.428T>C (p.Ile143Thr)
c.458T>C (p.Ile153Thr)
n.446T>C
c.479T>C (p.Ile160Thr)
Xg.19351333T>GCA412391052PDHA1c.365T>G (p.Ile122Ser)
c.344T>G (p.Ile115Ser)
c.428T>G (p.Ile143Ser)
c.458T>G (p.Ile153Ser)
n.446T>G
c.479T>G (p.Ile160Ser)
Xg.19351334C>ACA515485535PDHA1c.366C>A (p.Ile122=)
c.345C>A (p.Ile115=)
c.429C>A (p.Ile143=)
c.459C>A (p.Ile153=)
n.447C>A
c.480C>A (p.Ile160=)
 gnomAD v4
Xg.19351334C=CA2418222111PDHA1c.366C= (p.Ile122=)
c.345C= (p.Ile115=)
c.429C= (p.Ile143=)
c.459C= (p.Ile153=)
n.447C=
c.480C= (p.Ile160=)
Xg.19351334C>GCA412391054PDHA1c.366C>G (p.Ile122Met)
c.345C>G (p.Ile115Met)
c.429C>G (p.Ile143Met)
c.459C>G (p.Ile153Met)
n.447C>G
c.480C>G (p.Ile160Met)
Xg.19351334C>TCA327024490PDHA1c.366C>T (p.Ile122=)
c.345C>T (p.Ile115=)
c.429C>T (p.Ile143=)
c.459C>T (p.Ile153=)
n.447C>T
c.480C>T (p.Ile160=)
 ClinVar dbSNP
Xg.19351336_19351337delCA2579566224PDHA1c.368_369del (p.Thr123SerfsTer?)
c.347_348del (p.Thr116SerfsTer?)
c.431_432del (p.Thr144SerfsTer?)
c.461_462del (p.Thr154SerfsTer?)
n.449_450del
c.482_483del (p.Thr161SerfsTer?)
Xg.19351335A>CCA412391056PDHA1c.367A>C (p.Thr123Pro)
c.346A>C (p.Thr116Pro)
c.430A>C (p.Thr144Pro)
c.460A>C (p.Thr154Pro)
n.448A>C
c.481A>C (p.Thr161Pro)
Xg.19351335A>GCA412391058PDHA1c.367A>G (p.Thr123Ala)
c.346A>G (p.Thr116Ala)
c.430A>G (p.Thr144Ala)
c.460A>G (p.Thr154Ala)
n.448A>G
c.481A>G (p.Thr161Ala)
Xg.19351335A>TCA412391060PDHA1c.367A>T (p.Thr123Ser)
c.346A>T (p.Thr116Ser)
c.430A>T (p.Thr144Ser)
c.460A>T (p.Thr154Ser)
n.448A>T
c.481A>T (p.Thr161Ser)
Xg.19351336C>ACA412391063PDHA1c.368C>A (p.Thr123Lys)
c.347C>A (p.Thr116Lys)
c.431C>A (p.Thr144Lys)
c.461C>A (p.Thr154Lys)
n.449C>A
c.482C>A (p.Thr161Lys)
 gnomAD v4
Xg.19351336C>GCA412391065PDHA1c.368C>G (p.Thr123Arg)
c.347C>G (p.Thr116Arg)
c.431C>G (p.Thr144Arg)
c.461C>G (p.Thr154Arg)
n.449C>G
c.482C>G (p.Thr161Arg)
Xg.19351336C>TCA412391066PDHA1c.368C>T (p.Thr123Ile)
c.347C>T (p.Thr116Ile)
c.431C>T (p.Thr144Ile)
c.461C>T (p.Thr154Ile)
n.449C>T
c.482C>T (p.Thr161Ile)
Xg.19351337A=CA2418222112PDHA1c.369A= (p.Thr123=)
c.348A= (p.Thr116=)
c.432A= (p.Thr144=)
c.462A= (p.Thr154=)
n.450A=
c.483A= (p.Thr161=)
Xg.19351337A>CCA515485536PDHA1c.369A>C (p.Thr123=)
c.348A>C (p.Thr116=)
c.432A>C (p.Thr144=)
c.462A>C (p.Thr154=)
n.450A>C
c.483A>C (p.Thr161=)
Xg.19351337A>GCA515485537PDHA1c.369A>G (p.Thr123=)
c.348A>G (p.Thr116=)
c.432A>G (p.Thr144=)
c.462A>G (p.Thr154=)
n.450A>G
c.483A>G (p.Thr161=)
Xg.19351337A>TCA327024494PDHA1c.369A>T (p.Thr123=)
c.348A>T (p.Thr116=)
c.432A>T (p.Thr144=)
c.462A>T (p.Thr154=)
n.450A>T
c.483A>T (p.Thr161=)
 dbSNP
Xg.19351338G>ACA412391071PDHA1c.370G>A (p.Ala124Thr)
c.349G>A (p.Ala117Thr)
c.433G>A (p.Ala145Thr)
c.463G>A (p.Ala155Thr)
n.451G>A
c.484G>A (p.Ala162Thr)
 gnomAD v4
Xg.19351338G>CCA412391073PDHA1c.370G>C (p.Ala124Pro)
c.349G>C (p.Ala117Pro)
c.433G>C (p.Ala145Pro)
c.463G>C (p.Ala155Pro)
n.451G>C
c.484G>C (p.Ala162Pro)
Xg.19351338G>TCA412391069PDHA1c.370G>T (p.Ala124Ser)
c.349G>T (p.Ala117Ser)
c.433G>T (p.Ala145Ser)
c.463G>T (p.Ala155Ser)
n.451G>T
c.484G>T (p.Ala162Ser)
Xg.19351339C>ACA412391075PDHA1c.371C>A (p.Ala124Asp)
c.350C>A (p.Ala117Asp)
c.434C>A (p.Ala145Asp)
c.464C>A (p.Ala155Asp)
n.452C>A
c.485C>A (p.Ala162Asp)
Xg.19351339C>GCA412391077PDHA1c.371C>G (p.Ala124Gly)
c.350C>G (p.Ala117Gly)
c.434C>G (p.Ala145Gly)
c.464C>G (p.Ala155Gly)
n.452C>G
c.485C>G (p.Ala162Gly)
Xg.19351339C>TCA412391079PDHA1c.371C>T (p.Ala124Val)
c.350C>T (p.Ala117Val)
c.434C>T (p.Ala145Val)
c.464C>T (p.Ala155Val)
n.452C>T
c.485C>T (p.Ala162Val)
Xg.19351340C>ACA515485538PDHA1c.372C>A (p.Ala124=)
c.351C>A (p.Ala117=)
c.435C>A (p.Ala145=)
c.465C>A (p.Ala155=)
n.453C>A
c.486C>A (p.Ala162=)
Xg.19351340C>GCA515485539PDHA1c.372C>G (p.Ala124=)
c.351C>G (p.Ala117=)
c.435C>G (p.Ala145=)
c.465C>G (p.Ala155=)
n.453C>G
c.486C>G (p.Ala162=)
Xg.19351340C>TCA515485540PDHA1c.372C>T (p.Ala124=)
c.351C>T (p.Ala117=)
c.435C>T (p.Ala145=)
c.465C>T (p.Ala155=)
n.453C>T
c.486C>T (p.Ala162=)
Xg.19351341T>ACA412391081PDHA1c.373T>A (p.Tyr125Asn)
c.352T>A (p.Tyr118Asn)
c.436T>A (p.Tyr146Asn)
c.466T>A (p.Tyr156Asn)
n.454T>A
c.487T>A (p.Tyr163Asn)
Xg.19351341T>CCA412391083PDHA1c.373T>C (p.Tyr125His)
c.352T>C (p.Tyr118His)
c.436T>C (p.Tyr146His)
c.466T>C (p.Tyr156His)
n.454T>C
c.487T>C (p.Tyr163His)
Xg.19351341T>GCA412391085PDHA1c.373T>G (p.Tyr125Asp)
c.352T>G (p.Tyr118Asp)
c.436T>G (p.Tyr146Asp)
c.466T>G (p.Tyr156Asp)
n.454T>G
c.487T>G (p.Tyr163Asp)
Xg.19351342A>CCA412391086PDHA1c.374A>C (p.Tyr125Ser)
c.353A>C (p.Tyr118Ser)
c.437A>C (p.Tyr146Ser)
c.467A>C (p.Tyr156Ser)
n.455A>C
c.488A>C (p.Tyr163Ser)
Xg.19351342A>GCA412391088PDHA1c.374A>G (p.Tyr125Cys)
c.353A>G (p.Tyr118Cys)
c.437A>G (p.Tyr146Cys)
c.467A>G (p.Tyr156Cys)
n.455A>G
c.488A>G (p.Tyr163Cys)
Xg.19351342A>TCA412391089PDHA1c.374A>T (p.Tyr125Phe)
c.353A>T (p.Tyr118Phe)
c.437A>T (p.Tyr146Phe)
c.467A>T (p.Tyr156Phe)
n.455A>T
c.488A>T (p.Tyr163Phe)
Xg.19351343C>ACA412391091PDHA1c.375C>A (p.Tyr125Ter)
c.354C>A (p.Tyr118Ter)
c.438C>A (p.Tyr146Ter)
c.468C>A (p.Tyr156Ter)
n.456C>A
c.489C>A (p.Tyr163Ter)
 gnomAD v4
Xg.19351343C>GCA412391093PDHA1c.375C>G (p.Tyr125Ter)
c.354C>G (p.Tyr118Ter)
c.438C>G (p.Tyr146Ter)
c.468C>G (p.Tyr156Ter)
n.456C>G
c.489C>G (p.Tyr163Ter)
Xg.19351343C>TCA515485541PDHA1c.375C>T (p.Tyr125=)
c.354C>T (p.Tyr118=)
c.438C>T (p.Tyr146=)
c.468C>T (p.Tyr156=)
n.456C>T
c.489C>T (p.Tyr163=)
 ClinVar
Xg.19351344C>ACA515485542PDHA1c.376C>A (p.Arg126=)
c.355C>A (p.Arg119=)
c.439C>A (p.Arg147=)
c.469C>A (p.Arg157=)
n.457C>A
c.490C>A (p.Arg164=)
Xg.19351344C>GCA412391095PDHA1c.376C>G (p.Arg126Gly)
c.355C>G (p.Arg119Gly)
c.439C>G (p.Arg147Gly)
c.469C>G (p.Arg157Gly)
n.457C>G
c.490C>G (p.Arg164Gly)
Xg.19351344C>TCA412391097PDHA1c.376C>T (p.Arg126Trp)
c.355C>T (p.Arg119Trp)
c.439C>T (p.Arg147Trp)
c.469C>T (p.Arg157Trp)
n.457C>T
c.490C>T (p.Arg164Trp)
 ClinVar dbSNP COSMIC
Xg.19351345G>ACA412391099PDHA1c.377G>A (p.Arg126Gln)
c.356G>A (p.Arg119Gln)
c.440G>A (p.Arg147Gln)
c.470G>A (p.Arg157Gln)
n.458G>A
c.491G>A (p.Arg164Gln)
Xg.19351345G>CCA412391103PDHA1c.377G>C (p.Arg126Pro)
c.356G>C (p.Arg119Pro)
c.440G>C (p.Arg147Pro)
c.470G>C (p.Arg157Pro)
n.458G>C
c.491G>C (p.Arg164Pro)
Xg.19351345G>TCA412391100PDHA1c.377G>T (p.Arg126Leu)
c.356G>T (p.Arg119Leu)
c.440G>T (p.Arg147Leu)
c.470G>T (p.Arg157Leu)
n.458G>T
c.491G>T (p.Arg164Leu)
Xg.19351346G>ACA10363026PDHA1c.378G>A (p.Arg126=)
c.357G>A (p.Arg119=)
c.441G>A (p.Arg147=)
c.471G>A (p.Arg157=)
n.459G>A
c.492G>A (p.Arg164=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19351346G>CCA515485543PDHA1c.378G>C (p.Arg126=)
c.357G>C (p.Arg119=)
c.441G>C (p.Arg147=)
c.471G>C (p.Arg157=)
n.459G>C
c.492G>C (p.Arg164=)
Xg.19351346G=CA2418222113PDHA1c.378G= (p.Arg126=)
c.357G= (p.Arg119=)
c.441G= (p.Arg147=)
c.471G= (p.Arg157=)
n.459G=
c.492G= (p.Arg164=)
Xg.19351346G>TCA515485544PDHA1c.378G>T (p.Arg126=)
c.357G>T (p.Arg119=)
c.441G>T (p.Arg147=)
c.471G>T (p.Arg157=)
n.459G>T
c.492G>T (p.Arg164=)
Xg.19351347G>ACA412391107PDHA1c.379G>A (p.Ala127Thr)
c.358G>A (p.Ala120Thr)
c.442G>A (p.Ala148Thr)
c.472G>A (p.Ala158Thr)
n.460G>A
c.493G>A (p.Ala165Thr)
Xg.19351347G>CCA412391109PDHA1c.379G>C (p.Ala127Pro)
c.358G>C (p.Ala120Pro)
c.442G>C (p.Ala148Pro)
c.472G>C (p.Ala158Pro)
n.460G>C
c.493G>C (p.Ala165Pro)
Xg.19351347G>TCA412391110PDHA1c.379G>T (p.Ala127Ser)
c.358G>T (p.Ala120Ser)
c.442G>T (p.Ala148Ser)
c.472G>T (p.Ala158Ser)
n.460G>T
c.493G>T (p.Ala165Ser)
 COSMIC
Xg.19351348C>ACA412391113PDHA1c.380C>A (p.Ala127Asp)
c.359C>A (p.Ala120Asp)
c.443C>A (p.Ala148Asp)
c.473C>A (p.Ala158Asp)
n.461C>A
c.494C>A (p.Ala165Asp)
Xg.19351348C=CA2418222114PDHA1c.380C= (p.Ala127=)
c.359C= (p.Ala120=)
c.443C= (p.Ala148=)
c.473C= (p.Ala158=)
n.461C=
c.494C= (p.Ala165=)
Xg.19351348C>GCA412391115PDHA1c.380C>G (p.Ala127Gly)
c.359C>G (p.Ala120Gly)
c.443C>G (p.Ala148Gly)
c.473C>G (p.Ala158Gly)
n.461C>G
c.494C>G (p.Ala165Gly)
Xg.19351348C>TCA412391117PDHA1c.380C>T (p.Ala127Val)
c.359C>T (p.Ala120Val)
c.443C>T (p.Ala148Val)
c.473C>T (p.Ala158Val)
n.461C>T
c.494C>T (p.Ala165Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.19351349T>ACA515485551PDHA1c.381T>A (p.Ala127=)
c.360T>A (p.Ala120=)
c.444T>A (p.Ala148=)
c.474T>A (p.Ala158=)
n.462T>A
c.495T>A (p.Ala165=)
Xg.19351349T>CCA515485555PDHA1c.381T>C (p.Ala127=)
c.360T>C (p.Ala120=)
c.444T>C (p.Ala148=)
c.474T>C (p.Ala158=)
n.462T>C
c.495T>C (p.Ala165=)
Xg.19351349T>GCA515485552PDHA1c.381T>G (p.Ala127=)
c.360T>G (p.Ala120=)
c.444T>G (p.Ala148=)
c.474T>G (p.Ala158=)
n.462T>G
c.495T>G (p.Ala165=)

Number of alleles fetched