| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149895206G>T | CA234508 | PDE6A | c.1705C>A (p.Gln569Lys) n.1889C>A c.1462C>A (p.Gln488Lys) c.1159C>A (p.Gln387Lys) c.820C>A (p.Gln274Lys) c.658C>A (p.Gln220Lys) c.628C>A (p.Gln210Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149895206G= | CA1590702466 | PDE6A | c.1705C= (p.Gln569=) n.1889C= c.1462C= (p.Gln488=) c.1159C= (p.Gln387=) c.820C= (p.Gln274=) c.658C= (p.Gln220=) c.628C= (p.Gln210=) | dbSNP |