| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.55058564G>A | CA023122 | PCSK9 | c.1420G>A (p.Val474Ile) c.1777G>A (p.Val593Ile) c.1045G>A (p.Val349Ile) c.160G>A (p.Val54Ile) n.2144G>A n.1027G>A c.541G>A (p.Val181Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55058564G= | CA1139809151 | PCSK9 | c.1420G= (p.Val474=) c.1777G= (p.Val593=) c.1045G= (p.Val349=) c.160G= (p.Val54=) n.2144G= n.1027G= c.541G= (p.Val181=) | dbSNP |