| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27985101C>T | CA251634 | OCA2 | c.1327G>A (p.Val443Ile) c.1255G>A (p.Val419Ile) c.1351G>A (p.Val451Ile) c.1279G>A (p.Val427Ile) c.1213G>A (p.Val405Ile) n.2712G>A c.1156G>A (p.Val386Ile) n.1440G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27985101C>G | CA391360565 | OCA2 | c.1327G>C (p.Val443Leu) c.1255G>C (p.Val419Leu) c.1351G>C (p.Val451Leu) c.1279G>C (p.Val427Leu) c.1213G>C (p.Val405Leu) n.2712G>C c.1156G>C (p.Val386Leu) n.1440G>C | dbSNP |
| 15 | g.27985101C= | CA2166411051 | OCA2 | c.1327G= (p.Val443=) c.1255G= (p.Val419=) c.1351G= (p.Val451=) c.1279G= (p.Val427=) c.1213G= (p.Val405=) n.2712G= c.1156G= (p.Val386=) n.1440G= | dbSNP |