| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.55058630C>T | CA023126 | PCSK9 | c.1486C>T (p.Arg496Trp) c.1843C>T (p.Arg615Trp) c.1111C>T (p.Arg371Trp) c.226C>T (p.Arg76Trp) n.2210C>T n.1093C>T c.607C>T (p.Arg203Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55058630C>A | CA417960340 | PCSK9 | c.1486C>A (p.Arg496=) c.1843C>A (p.Arg615=) c.1111C>A (p.Arg371=) c.226C>A (p.Arg76=) n.2210C>A n.1093C>A c.607C>A (p.Arg203=) | dbSNP gnomAD v4 |
| 1 | g.55058630C= | CA1144005303 | PCSK9 | c.1486C= (p.Arg496=) c.1843C= (p.Arg615=) c.1111C= (p.Arg371=) c.226C= (p.Arg76=) n.2210C= n.1093C= c.607C= (p.Arg203=) | dbSNP |
| 1 | g.55058630C>G | CA340479305 | PCSK9 | c.1486C>G (p.Arg496Gly) c.1843C>G (p.Arg615Gly) c.1111C>G (p.Arg371Gly) c.226C>G (p.Arg76Gly) n.2210C>G n.1093C>G c.607C>G (p.Arg203Gly) | dbSNP gnomAD v4 |