| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.28014819G>A | CA251637 | OCA2 | c.1001C>T (p.Ala334Val) c.1025C>T (p.Ala342Val) n.2386C>T c.830C>T (p.Ala277Val) n.1114C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.28014819G= | CA2166414834 | OCA2 | c.1001C= (p.Ala334=) c.1025C= (p.Ala342=) n.2386C= c.830C= (p.Ala277=) n.1114C= | dbSNP |