| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27985172C>T | CA114680 | OCA2 | c.1256G>A (p.Arg419Gln) c.1184G>A (p.Arg395Gln) c.1280G>A (p.Arg427Gln) c.1208G>A (p.Arg403Gln) c.1142G>A (p.Arg381Gln) n.2641G>A c.1085G>A (p.Arg362Gln) n.1369G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27985172C= | CA2166411187 | OCA2 | c.1256G= (p.Arg419=) c.1184G= (p.Arg395=) c.1280G= (p.Arg427=) c.1208G= (p.Arg403=) c.1142G= (p.Arg381=) n.2641G= c.1085G= (p.Arg362=) n.1369G= | dbSNP |