| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.55046549C>T | CA417957607 | PCSK9 | c.426C>T (p.Tyr142=) c.783C>T (p.Tyr261=) n.96C>T c.51C>T (p.Tyr17=) n.183-5729C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55046549C>G | CA023156 | PCSK9 | c.426C>G (p.Tyr142Ter) c.783C>G (p.Tyr261Ter) n.96C>G c.51C>G (p.Tyr17Ter) n.183-5729C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |