| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.55058543C>G | CA036796 | PCSK9 | c.1399C>G (p.Pro467Ala) c.1756C>G (p.Pro586Ala) c.1024C>G (p.Pro342Ala) c.139C>G (p.Pro47Ala) n.2123C>G n.1006C>G c.520C>G (p.Pro174Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55058543C= | CA1167984416 | PCSK9 | c.1399C= (p.Pro467=) c.1756C= (p.Pro586=) c.1024C= (p.Pro342=) c.139C= (p.Pro47=) n.2123C= n.1006C= c.520C= (p.Pro174=) | dbSNP |