Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.19349934C>TCA2693249708PDHA1c.118-3C>T (n.118-3C>T)
c.202-3C>T (n.202-3C>T)
c.232-3C>T (n.232-3C>T)
n.220-3C>T
 gnomAD v4
Xg.19349935A>CCA412389587PDHA1c.118-2A>C (n.118-2A>C)
c.202-2A>C (n.202-2A>C)
c.232-2A>C (n.232-2A>C)
n.220-2A>C
Xg.19349935A>GCA412389589PDHA1c.118-2A>G (n.118-2A>G)
c.202-2A>G (n.202-2A>G)
c.232-2A>G (n.232-2A>G)
n.220-2A>G
Xg.19349935A>TCA412389591PDHA1c.118-2A>T (n.118-2A>T)
c.202-2A>T (n.202-2A>T)
c.232-2A>T (n.232-2A>T)
n.220-2A>T
Xg.19349936G>ACA412389593PDHA1c.118-1G>A (n.118-1G>A)
c.202-1G>A (n.202-1G>A)
c.232-1G>A (n.232-1G>A)
n.220-1G>A
Xg.19349936G>CCA412389596PDHA1c.118-1G>C (n.118-1G>C)
c.202-1G>C (n.202-1G>C)
c.232-1G>C (n.232-1G>C)
n.220-1G>C
Xg.19349936G>TCA412389598PDHA1c.118-1G>T (n.118-1G>T)
c.202-1G>T (n.202-1G>T)
c.232-1G>T (n.232-1G>T)
n.220-1G>T
Xg.19349937A>CCA412389600PDHA1c.118A>C (p.Lys40Gln)
c.202A>C (p.Lys68Gln)
c.232A>C (p.Lys78Gln)
n.220A>C
Xg.19349937A>GCA412389601PDHA1c.118A>G (p.Lys40Glu)
c.202A>G (p.Lys68Glu)
c.232A>G (p.Lys78Glu)
n.220A>G
 ClinVar
Xg.19349937A>TCA412389602PDHA1c.118A>T (p.Lys40Ter)
c.202A>T (p.Lys68Ter)
c.232A>T (p.Lys78Ter)
n.220A>T
Xg.19349938A>CCA412389604PDHA1c.119A>C (p.Lys40Thr)
c.203A>C (p.Lys68Thr)
c.233A>C (p.Lys78Thr)
n.221A>C
Xg.19349938A>GCA412389606PDHA1c.119A>G (p.Lys40Arg)
c.203A>G (p.Lys68Arg)
c.233A>G (p.Lys78Arg)
n.221A>G
Xg.19349938A>TCA412389608PDHA1c.119A>T (p.Lys40Ile)
c.203A>T (p.Lys68Ile)
c.233A>T (p.Lys78Ile)
n.221A>T
Xg.19349939A>CCA412389610PDHA1c.120A>C (p.Lys40Asn)
c.204A>C (p.Lys68Asn)
c.234A>C (p.Lys78Asn)
n.222A>C
Xg.19349939A>GCA515485209PDHA1c.120A>G (p.Lys40=)
c.204A>G (p.Lys68=)
c.234A>G (p.Lys78=)
n.222A>G
 gnomAD v4
Xg.19349939A>TCA412389612PDHA1c.120A>T (p.Lys40Asn)
c.204A>T (p.Lys68Asn)
c.234A>T (p.Lys78Asn)
n.222A>T
Xg.19349940T>ACA412389615PDHA1c.121T>A (p.Cys41Ser)
c.205T>A (p.Cys69Ser)
c.235T>A (p.Cys79Ser)
n.223T>A
Xg.19349940T>CCA412389616PDHA1c.121T>C (p.Cys41Arg)
c.205T>C (p.Cys69Arg)
c.235T>C (p.Cys79Arg)
n.223T>C
 gnomAD v4
Xg.19349940T>GCA412389617PDHA1c.121T>G (p.Cys41Gly)
c.205T>G (p.Cys69Gly)
c.235T>G (p.Cys79Gly)
n.223T>G
 gnomAD v4
Xg.19349941G>ACA412389620PDHA1c.122G>A (p.Cys41Tyr)
c.206G>A (p.Cys69Tyr)
c.236G>A (p.Cys79Tyr)
n.224G>A
Xg.19349941G>CCA412389621PDHA1c.122G>C (p.Cys41Ser)
c.206G>C (p.Cys69Ser)
c.236G>C (p.Cys79Ser)
n.224G>C
Xg.19349941G>TCA412389624PDHA1c.122G>T (p.Cys41Phe)
c.206G>T (p.Cys69Phe)
c.236G>T (p.Cys79Phe)
n.224G>T
Xg.19349942T>ACA412389626PDHA1c.123T>A (p.Cys41Ter)
c.207T>A (p.Cys69Ter)
c.237T>A (p.Cys79Ter)
n.225T>A
Xg.19349942T>CCA515485210PDHA1c.123T>C (p.Cys41=)
c.207T>C (p.Cys69=)
c.237T>C (p.Cys79=)
n.225T>C
Xg.19349942T>GCA412389627PDHA1c.123T>G (p.Cys41Trp)
c.207T>G (p.Cys69Trp)
c.237T>G (p.Cys79Trp)
n.225T>G
Xg.19349943G>ACA412389629PDHA1c.124G>A (p.Asp42Asn)
c.208G>A (p.Asp70Asn)
c.238G>A (p.Asp80Asn)
n.226G>A
Xg.19349943G>CCA412389631PDHA1c.124G>C (p.Asp42His)
c.208G>C (p.Asp70His)
c.238G>C (p.Asp80His)
n.226G>C
Xg.19349943G>TCA412389633PDHA1c.124G>T (p.Asp42Tyr)
c.208G>T (p.Asp70Tyr)
c.238G>T (p.Asp80Tyr)
n.226G>T
Xg.19349944A>CCA412389636PDHA1c.125A>C (p.Asp42Ala)
c.209A>C (p.Asp70Ala)
c.239A>C (p.Asp80Ala)
n.227A>C
Xg.19349944A>GCA412389637PDHA1c.125A>G (p.Asp42Gly)
c.209A>G (p.Asp70Gly)
c.239A>G (p.Asp80Gly)
n.227A>G
 gnomAD v4
Xg.19349944A>TCA412389639PDHA1c.125A>T (p.Asp42Val)
c.209A>T (p.Asp70Val)
c.239A>T (p.Asp80Val)
n.227A>T
 gnomAD v4
Xg.19349945C>ACA412389641PDHA1c.126C>A (p.Asp42Glu)
c.210C>A (p.Asp70Glu)
c.240C>A (p.Asp80Glu)
n.228C>A
Xg.19349945C=CA2418221678PDHA1c.126C= (p.Asp42=)
c.210C= (p.Asp70=)
c.240C= (p.Asp80=)
n.228C=
Xg.19349945C>GCA10362999PDHA1c.126C>G (p.Asp42Glu)
c.210C>G (p.Asp70Glu)
c.240C>G (p.Asp80Glu)
n.228C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19349945C>TCA515485211PDHA1c.126C>T (p.Asp42=)
c.210C>T (p.Asp70=)
c.240C>T (p.Asp80=)
n.228C>T
 gnomAD v4
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

Number of alleles fetched