| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.28027946dup | CA16042969 | OCA2 | c.440dup (p.Ser148ValfsTer?) c.464dup (p.Ser156ValfsTer?) n.1825dup c.269dup (p.Ser91ValfsTer?) n.553dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28027946A= | CA3212402648 | OCA2 | c.440T= (p.Leu147=) c.464T= (p.Leu155=) n.1825T= c.269T= (p.Leu90=) n.553T= | dbSNP |