| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27989601C>T | CA251641 | OCA2 | c.1182G>A (p.Met394Ile) c.1110G>A (p.Met370Ile) c.1206G>A (p.Met402Ile) c.1134G>A (p.Met378Ile) c.1069-2958G>A (n.1069-2958G>A) n.2567G>A c.1011G>A (p.Met337Ile) n.1295G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27989601C= | CA2166415593 | OCA2 | c.1182G= (p.Met394=) c.1110G= (p.Met370=) c.1206G= (p.Met402=) c.1134G= (p.Met378=) c.1069-2958G= (n.1069-2958G=) n.2567G= c.1011G= (p.Met337=) n.1295G= | dbSNP |