| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108138935A>G | CA275332 | ACAT1 | c.473A>G (p.Asn158Ser) n.568A>G c.*31A>G (n.*31A>G) c.203A>G (p.Asn68Ser) c.110A>G (p.Asn37Ser) c.158A>G (p.Asn53Ser) n.561A>G c.279A>G c.372A>G (p.Gln124=) n.216A>G c.95A>G (p.Asn32Ser) c.176A>G (p.Asn59Ser) n.513A>G n.506A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108138935A= | CA1998717027 | ACAT1 | c.473A= (p.Asn158=) n.568A= c.*31A= (n.*31A=) c.203A= (p.Asn68=) c.110A= (p.Asn37=) c.158A= (p.Asn53=) n.561A= c.279A= c.372A= (p.Gln124=) n.216A= c.95A= (p.Asn32=) c.176A= (p.Asn59=) n.513A= n.506A= | dbSNP |