| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27926246del | CA251636 | OCA2 | c.1960del (p.Ala654LeufsTer9) c.1888del (p.Ala630LeufsTer9) c.1984del (p.Ala662LeufsTer9) c.1912del (p.Ala638LeufsTer9) c.1846del (p.Ala616LeufsTer9) c.1789del (p.Ala597LeufsTer9) | ClinVar dbSNP |
| 15 | g.27926246C= | CA2166365102 | OCA2 | c.1960G= (p.Ala654=) c.1888G= (p.Ala630=) c.1984G= (p.Ala662=) c.1912G= (p.Ala638=) c.1846G= (p.Ala616=) c.1789G= (p.Ala597=) | dbSNP dbSNP |