| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.123373794G>A | CA5232402 | CRB2 | c.3263G>A (p.Gly1088Asp) c.2267G>A (p.Gly756Asp) n.2377G>A c.3236G>A (p.Gly1079Asp) c.3068G>A (p.Gly1023Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123373794G= | CA1877939823 | CRB2 | c.3263G= (p.Gly1088=) c.2267G= (p.Gly756=) n.2377G= c.3236G= (p.Gly1079=) c.3068G= (p.Gly1023=) | dbSNP |