| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27851390C>T | CA7438634 | OCA2 | c.2330G>A (p.Cys777Tyr) c.2258G>A (p.Cys753Tyr) c.2396G>A (p.Cys799Tyr) c.2372G>A (p.Cys791Tyr) c.2354G>A (p.Cys785Tyr) c.2324G>A (p.Cys775Tyr) c.2282G>A (p.Cys761Tyr) c.2189G>A (p.Cys730Tyr) c.2201G>A (p.Cys734Tyr) c.2268+19764G>A (n.2268+19764G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27851390C= | CA2166351989 | OCA2 | c.2330G= (p.Cys777=) c.2258G= (p.Cys753=) c.2396G= (p.Cys799=) c.2372G= (p.Cys791=) c.2354G= (p.Cys785=) c.2324G= (p.Cys775=) c.2282G= (p.Cys761=) c.2189G= (p.Cys730=) c.2201G= (p.Cys734=) c.2268+19764G= (n.2268+19764G=) | dbSNP |