Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.19349946C>ACA412389645PDHA1c.127C>A (p.Leu43Ile)
c.211C>A (p.Leu71Ile)
c.241C>A (p.Leu81Ile)
n.229C>A
Xg.19349946C>GCA412389647PDHA1c.127C>G (p.Leu43Val)
c.211C>G (p.Leu71Val)
c.241C>G (p.Leu81Val)
n.229C>G
Xg.19349946C>TCA412389649PDHA1c.127C>T (p.Leu43Phe)
c.211C>T (p.Leu71Phe)
c.241C>T (p.Leu81Phe)
n.229C>T
Xg.19349947T>ACA412389652PDHA1c.128T>A (p.Leu43His)
c.212T>A (p.Leu71His)
c.242T>A (p.Leu81His)
n.230T>A
Xg.19349947T>CCA412389654PDHA1c.128T>C (p.Leu43Pro)
c.212T>C (p.Leu71Pro)
c.242T>C (p.Leu81Pro)
n.230T>C
 gnomAD v4
Xg.19349947T>GCA412389655PDHA1c.128T>G (p.Leu43Arg)
c.212T>G (p.Leu71Arg)
c.242T>G (p.Leu81Arg)
n.230T>G
Xg.19349948T>ACA515485212PDHA1c.129T>A (p.Leu43=)
c.213T>A (p.Leu71=)
c.243T>A (p.Leu81=)
n.231T>A
Xg.19349948T>CCA515485213PDHA1c.129T>C (p.Leu43=)
c.213T>C (p.Leu71=)
c.243T>C (p.Leu81=)
n.231T>C
Xg.19349948T>GCA515485214PDHA1c.129T>G (p.Leu43=)
c.213T>G (p.Leu71=)
c.243T>G (p.Leu81=)
n.231T>G
Xg.19349949C>ACA412389658PDHA1c.130C>A (p.His44Asn)
c.214C>A (p.His72Asn)
c.244C>A (p.His82Asn)
n.232C>A
Xg.19349949C>GCA412389660PDHA1c.130C>G (p.His44Asp)
c.214C>G (p.His72Asp)
c.244C>G (p.His82Asp)
n.232C>G
Xg.19349949C>TCA412389662PDHA1c.130C>T (p.His44Tyr)
c.214C>T (p.His72Tyr)
c.244C>T (p.His82Tyr)
n.232C>T
Xg.19349950A>CCA412389664PDHA1c.131A>C (p.His44Pro)
c.215A>C (p.His72Pro)
c.245A>C (p.His82Pro)
n.233A>C
Xg.19349950A>GCA412389666PDHA1c.131A>G (p.His44Arg)
c.215A>G (p.His72Arg)
c.245A>G (p.His82Arg)
n.233A>G
Xg.19349950A>TCA412389668PDHA1c.131A>T (p.His44Leu)
c.215A>T (p.His72Leu)
c.245A>T (p.His82Leu)
n.233A>T
Xg.19349951C>ACA412389673PDHA1c.132C>A (p.His44Gln)
c.216C>A (p.His72Gln)
c.246C>A (p.His82Gln)
n.234C>A
Xg.19349951C=CA2418221679PDHA1c.132C= (p.His44=)
c.216C= (p.His72=)
c.246C= (p.His82=)
n.234C=
Xg.19349951C>GCA412389671PDHA1c.132C>G (p.His44Gln)
c.216C>G (p.His72Gln)
c.246C>G (p.His82Gln)
n.234C>G
 dbSNP gnomAD v2
Xg.19349951C>TCA515485215PDHA1c.132C>T (p.His44=)
c.216C>T (p.His72=)
c.246C>T (p.His82=)
n.234C>T
Xg.19349952C>ACA515485216PDHA1c.133C>A (p.Arg45=)
c.217C>A (p.Arg73=)
c.247C>A (p.Arg83=)
n.235C>A
Xg.19349952C=CA2418221680PDHA1c.133C= (p.Arg45=)
c.217C= (p.Arg73=)
c.247C= (p.Arg83=)
n.235C=
Xg.19349952C>GCA412389675PDHA1c.133C>G (p.Arg45Gly)
c.217C>G (p.Arg73Gly)
c.247C>G (p.Arg83Gly)
n.235C>G
 ClinVar dbSNP
Xg.19349952C>TCA412389677PDHA1c.133C>T (p.Arg45Trp)
c.217C>T (p.Arg73Trp)
c.247C>T (p.Arg83Trp)
n.235C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.19349953G>ACA10363000PDHA1c.134G>A (p.Arg45Gln)
c.218G>A (p.Arg73Gln)
c.248G>A (p.Arg83Gln)
n.236G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19349953G>CCA412389681PDHA1c.134G>C (p.Arg45Pro)
c.218G>C (p.Arg73Pro)
c.248G>C (p.Arg83Pro)
n.236G>C
Xg.19349953G=CA2418221681PDHA1c.134G= (p.Arg45=)
c.218G= (p.Arg73=)
c.248G= (p.Arg83=)
n.236G=
Xg.19349953G>TCA412389682PDHA1c.134G>T (p.Arg45Leu)
c.218G>T (p.Arg73Leu)
c.248G>T (p.Arg83Leu)
n.236G>T
Xg.19349954G>ACA515485217PDHA1c.135G>A (p.Arg45=)
c.219G>A (p.Arg73=)
c.249G>A (p.Arg83=)
n.237G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.19349954G>CCA515485218PDHA1c.135G>C (p.Arg45=)
c.219G>C (p.Arg73=)
c.249G>C (p.Arg83=)
n.237G>C
 gnomAD v4
Xg.19349954G=CA2418221682PDHA1c.135G= (p.Arg45=)
c.219G= (p.Arg73=)
c.249G= (p.Arg83=)
n.237G=
Xg.19349954G>TCA515485219PDHA1c.135G>T (p.Arg45=)
c.219G>T (p.Arg73=)
c.249G>T (p.Arg83=)
n.237G>T
Xg.19349955C>ACA412389685PDHA1c.136C>A (p.Leu46Met)
c.220C>A (p.Leu74Met)
c.250C>A (p.Leu84Met)
n.238C>A
 gnomAD v4
Xg.19349955C>GCA412389687PDHA1c.136C>G (p.Leu46Val)
c.220C>G (p.Leu74Val)
c.250C>G (p.Leu84Val)
n.238C>G
 dbSNP
Xg.19349955C>TCA515485220PDHA1c.136C>T (p.Leu46=)
c.220C>T (p.Leu74=)
c.250C>T (p.Leu84=)
n.238C>T
Xg.19349956T>ACA412389689PDHA1c.137T>A (p.Leu46Gln)
c.221T>A (p.Leu74Gln)
c.251T>A (p.Leu84Gln)
n.239T>A
Xg.19349956T>CCA412389691PDHA1c.137T>C (p.Leu46Pro)
c.221T>C (p.Leu74Pro)
c.251T>C (p.Leu84Pro)
n.239T>C
 gnomAD v4
Xg.19349956T>GCA412389693PDHA1c.137T>G (p.Leu46Arg)
c.221T>G (p.Leu74Arg)
c.251T>G (p.Leu84Arg)
n.239T>G
Xg.19349957G>ACA515485221PDHA1c.138G>A (p.Leu46=)
c.222G>A (p.Leu74=)
c.252G>A (p.Leu84=)
n.240G>A
Xg.19349957G>CCA515485222PDHA1c.138G>C (p.Leu46=)
c.222G>C (p.Leu74=)
c.252G>C (p.Leu84=)
n.240G>C
Xg.19349957G>TCA515485223PDHA1c.138G>T (p.Leu46=)
c.222G>T (p.Leu74=)
c.252G>T (p.Leu84=)
n.240G>T
Xg.19349958delCA2693249709PDHA1c.139del (p.Glu47LysfsTer21)
c.223del (p.Glu75LysfsTer21)
c.253del (p.Glu85LysfsTer21)
n.241del
 gnomAD v4
Xg.19349958G>ACA10363001PDHA1c.139G>A (p.Glu47Lys)
c.223G>A (p.Glu75Lys)
c.253G>A (p.Glu85Lys)
n.241G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19349958G>CCA412389696PDHA1c.139G>C (p.Glu47Gln)
c.223G>C (p.Glu75Gln)
c.253G>C (p.Glu85Gln)
n.241G>C
Xg.19349958G=CA2418221683PDHA1c.139G= (p.Glu47=)
c.223G= (p.Glu75=)
c.253G= (p.Glu85=)
n.241G=
Xg.19349958G>TCA412389699PDHA1c.139G>T (p.Glu47Ter)
c.223G>T (p.Glu75Ter)
c.253G>T (p.Glu85Ter)
n.241G>T
Xg.19349959A=CA2418221684PDHA1c.140A= (p.Glu47=)
c.224A= (p.Glu75=)
c.254A= (p.Glu85=)
n.242A=
Xg.19349959A>CCA412389703PDHA1c.140A>C (p.Glu47Ala)
c.224A>C (p.Glu75Ala)
c.254A>C (p.Glu85Ala)
n.242A>C
Xg.19349959A>GCA412389702PDHA1c.140A>G (p.Glu47Gly)
c.224A>G (p.Glu75Gly)
c.254A>G (p.Glu85Gly)
n.242A>G
 dbSNP gnomAD v2
Xg.19349959A>TCA412389700PDHA1c.140A>T (p.Glu47Val)
c.224A>T (p.Glu75Val)
c.254A>T (p.Glu85Val)
n.242A>T
Xg.19349960A>CCA412389704PDHA1c.141A>C (p.Glu47Asp)
c.225A>C (p.Glu75Asp)
c.255A>C (p.Glu85Asp)
n.243A>C

Number of alleles fetched