| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149944370G>A | CA3505083 | PDE6A | c.304C>T (p.Arg102Cys) n.424C>T c.-72-9652C>T (n.-72-9652C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149944370G>T | CA238610 | PDE6A | c.304C>A (p.Arg102Ser) n.424C>A c.-72-9652C>A (n.-72-9652C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149944370G= | CA1590722412 | PDE6A | c.304C= (p.Arg102=) n.424C= c.-72-9652C= (n.-72-9652C=) | dbSNP |