| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.55057454G>A | CA035223 | PCSK9 | c.1120G>A (p.Asp374Asn) c.1477G>A (p.Asp493Asn) c.745G>A (p.Asp249Asn) n.1844G>A n.779G>A c.241G>A (p.Asp81Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55057454G>T | CA023106 | PCSK9 | c.1120G>T (p.Asp374Tyr) c.1477G>T (p.Asp493Tyr) c.745G>T (p.Asp249Tyr) n.1844G>T n.779G>T c.241G>T (p.Asp81Tyr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55057454G>C | CA10588875 | PCSK9 | c.1120G>C (p.Asp374His) c.1477G>C (p.Asp493His) c.745G>C (p.Asp249His) n.1844G>C n.779G>C c.241G>C (p.Asp81His) | ClinVar dbSNP |
| 1 | g.55057454G= | CA1141580807 | PCSK9 | c.1120G= (p.Asp374=) c.1477G= (p.Asp493=) c.745G= (p.Asp249=) n.1844G= n.779G= c.241G= (p.Asp81=) | dbSNP |