| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.28016127del | CA275422 | OCA2 | c.867del (p.Ser289ArgfsTer7) c.633del (p.Ser211ArgfsTer7) c.891del (p.Ser297ArgfsTer7) n.2252del c.696del (p.Ser232ArgfsTer7) n.980del | ClinVar dbSNP |
| 15 | g.28016127G= | CA2166415795 | OCA2 | c.867C= (p.Ser289=) c.633C= (p.Ser211=) c.891C= (p.Ser297=) n.2252C= c.696C= (p.Ser232=) n.980C= | dbSNP dbSNP |