| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27983383T>C | CA251640 | OCA2 | c.1465A>G (p.Asn489Asp) c.1393A>G (p.Asn465Asp) c.1489A>G (p.Asn497Asp) c.1417A>G (p.Asn473Asp) c.1351A>G (p.Asn451Asp) n.2850A>G c.1294A>G (p.Asn432Asp) n.1578A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27983383T>A | CA391359338 | OCA2 | c.1465A>T (p.Asn489Tyr) c.1393A>T (p.Asn465Tyr) c.1489A>T (p.Asn497Tyr) c.1417A>T (p.Asn473Tyr) c.1351A>T (p.Asn451Tyr) n.2850A>T c.1294A>T (p.Asn432Tyr) n.1578A>T | ClinVar dbSNP |