Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.108138934A>G | CA220226 | ACAT1 | c.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 |
11 | g.108138934A>C | CA382507123 | ACAT1 | c.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 |