| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.55058538C>G | CA036756 | PCSK9 | c.1394C>G (p.Ser465Trp) c.1751C>G (p.Ser584Trp) c.1019C>G (p.Ser340Trp) c.134C>G (p.Ser45Trp) n.2118C>G n.1001C>G c.515C>G (p.Ser172Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55058538C>A | CA340478770 | PCSK9 | c.1394C>A (p.Ser465Ter) c.1751C>A (p.Ser584Ter) c.1019C>A (p.Ser340Ter) c.134C>A (p.Ser45Ter) n.2118C>A n.1001C>A c.515C>A (p.Ser172Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55058538C>T | CA16609712 | PCSK9 | c.1394C>T (p.Ser465Leu) c.1751C>T (p.Ser584Leu) c.1019C>T (p.Ser340Leu) c.134C>T (p.Ser45Leu) n.2118C>T n.1001C>T c.515C>T (p.Ser172Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |