| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.662188C>T | CA256720 | PDE6B | c.1669C>T (p.His557Tyr) c.832C>T (p.His278Tyr) c.1888C>T (p.His630Tyr) c.874C>T (p.His292Tyr) c.598C>T (p.His200Tyr) n.355G>A c.514C>T (p.His172Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.662188C= | CA1432859196 | PDE6B | c.1669C= (p.His557=) c.832C= (p.His278=) c.1888C= (p.His630=) c.874C= (p.His292=) c.598C= (p.His200=) n.355G= c.514C= (p.His172=) | dbSNP |