| 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 |
| 11 | g.108138934A= | CA1998717026 | ACAT1 | c.472A= (p.Asn158=) n.567A= c.*30A= (n.*30A=) c.202A= (p.Asn68=) c.109A= (p.Asn37=) c.157A= (p.Asn53=) n.560A= c.278A= c.371A= (p.Gln124=) n.215A= c.94A= (p.Asn32=) c.175A= (p.Asn59=) n.512A= n.505A= | dbSNP |