| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.55044020G>A | CA041734 | PCSK9 | c.385G>A (p.Asp129Asn) c.742G>A (p.Asp248Asn) n.55G>A c.10G>A (p.Asp4Asn) n.182+3617G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55044020G= | CA1167978158 | PCSK9 | c.385G= (p.Asp129=) c.742G= (p.Asp248=) n.55G= c.10G= (p.Asp4=) n.182+3617G= | dbSNP |