| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.55058549C>T | CA023118 | PCSK9 | c.1405C>T (p.Arg469Trp) c.1762C>T (p.Arg588Trp) c.1030C>T (p.Arg344Trp) c.145C>T (p.Arg49Trp) n.2129C>T n.1012C>T c.526C>T (p.Arg176Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.55058549C= | CA1141809056 | PCSK9 | c.1405C= (p.Arg469=) c.1762C= (p.Arg588=) c.1030C= (p.Arg344=) c.145C= (p.Arg49=) n.2129C= n.1012C= c.526C= (p.Arg176=) | dbSNP |