| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27845047C>T | CA277156 | OCA2 | c.2344G>A (p.Gly782Arg) c.2272G>A (p.Gly758Arg) c.2410G>A (p.Gly804Arg) c.2386G>A (p.Gly796Arg) c.2368G>A (p.Gly790Arg) c.2338G>A (p.Gly780Arg) c.2296G>A (p.Gly766Arg) c.2203G>A (p.Gly735Arg) c.2215G>A (p.Gly739Arg) c.2268+26107G>A (n.2268+26107G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27845047C= | CA2166337119 | OCA2 | c.2344G= (p.Gly782=) c.2272G= (p.Gly758=) c.2410G= (p.Gly804=) c.2386G= (p.Gly796=) c.2368G= (p.Gly790=) c.2338G= (p.Gly780=) c.2296G= (p.Gly766=) c.2203G= (p.Gly735=) c.2215G= (p.Gly739=) c.2268+26107G= (n.2268+26107G=) | dbSNP |