| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149907345G>T | CA256727 | PDE6A | c.1032C>A (p.Ser344Arg) n.1152C>A c.789C>A (p.Ser263Arg) c.486C>A (p.Ser162Arg) c.147C>A (p.Ser49Arg) c.-212C>A (n.-212C>A) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149907345G>A | CA3504829 | PDE6A | c.1032C>T (p.Ser344=) n.1152C>T c.789C>T (p.Ser263=) c.486C>T (p.Ser162=) c.147C>T (p.Ser49=) c.-212C>T (n.-212C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |