| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.55052749C>T | CA044357 | PCSK9 | c.757C>T (p.Leu253Phe) c.1114C>T (p.Leu372Phe) c.382C>T (p.Leu128Phe) n.1578C>T n.416C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55052749C= | CA1140805105 | PCSK9 | c.757C= (p.Leu253=) c.1114C= (p.Leu372=) c.382C= (p.Leu128=) n.1578C= n.416C= | dbSNP |