| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.28014795T>G | CA391364850 | OCA2 | c.1025A>C (p.Tyr342Ser) c.1049A>C (p.Tyr350Ser) n.2410A>C c.854A>C (p.Tyr285Ser) n.1138A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28014795T>C | CA7439258 | OCA2 | c.1025A>G (p.Tyr342Cys) c.1049A>G (p.Tyr350Cys) n.2410A>G c.854A>G (p.Tyr285Cys) n.1138A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |