Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.108138934A>GCA220226ACAT1c.472A>G (p.Asn158Asp)
n.567A>G
c.*30A>G (n.*30A>G)
c.202A>G (p.Asn68Asp)
c.109A>G (p.Asn37Asp)
c.157A>G (p.Asn53Asp)
n.560A>G
c.278A>G
c.371A>G (p.Gln124Arg)
n.215A>G
c.94A>G (p.Asn32Asp)
c.175A>G (p.Asn59Asp)
n.512A>G
n.505A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.108138934A>CCA382507123ACAT1c.472A>C (p.Asn158His)
n.567A>C
c.*30A>C (n.*30A>C)
c.202A>C (p.Asn68His)
c.109A>C (p.Asn37His)
c.157A>C (p.Asn53His)
n.560A>C
c.278A>C
c.371A>C (p.Gln124Pro)
n.215A>C
c.94A>C (p.Asn32His)
c.175A>C (p.Asn59His)
n.512A>C
n.505A>C
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched