| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.55058106C>A | CA036101 | PCSK9 | c.1251C>A (p.His417Gln) c.1608C>A (p.His536Gln) c.876C>A (p.His292Gln) n.1975C>A n.910C>A c.372C>A (p.His124Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55058106C= | CA1141919219 | PCSK9 | c.1251C= (p.His417=) c.1608C= (p.His536=) c.876C= (p.His292=) n.1975C= n.910C= c.372C= (p.His124=) | dbSNP |