| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149883511C>T | CA259675 | PDE6A | c.2053G>A (p.Val685Met) n.2237G>A c.1810G>A (p.Val604Met) c.1507G>A (p.Val503Met) c.1168G>A (p.Val390Met) c.1006G>A (p.Val336Met) c.976G>A (p.Val326Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149883511C= | CA1590694638 | PDE6A | c.2053G= (p.Val685=) n.2237G= c.1810G= (p.Val604=) c.1507G= (p.Val503=) c.1168G= (p.Val390=) c.1006G= (p.Val336=) c.976G= (p.Val326=) | dbSNP |