| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197427826G>A | CA344037829 | CRB1 | c.2501G>A (p.Gly834Asp) c.1382G>A (p.Gly461Asp) c.644G>A (p.Gly215Asp) c.2165G>A (p.Gly722Asp) n.402G>A c.2294G>A (p.Gly765Asp) c.2128+5870G>A (n.2128+5870G>A) n.2502G>A n.2710G>A c.1919G>A (p.Gly640Asp) c.944G>A (p.Gly315Asp) c.1658G>A (p.Gly553Asp) n.2454G>A n.2662G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197427826G= | CA1218066318 | CRB1 | c.2501G= (p.Gly834=) c.1382G= (p.Gly461=) c.644G= (p.Gly215=) c.2165G= (p.Gly722=) n.402G= c.2294G= (p.Gly765=) c.2128+5870G= (n.2128+5870G=) n.2502G= n.2710G= c.1919G= (p.Gly640=) c.944G= (p.Gly315=) c.1658G= (p.Gly553=) n.2454G= n.2662G= | dbSNP |