| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.123371419G>A | CA5232165 | CRB2 | c.2277G>A (p.Trp759Ter) c.1281G>A (p.Trp427Ter) n.1391G>A c.2082G>A (p.Trp694Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123371419G= | CA1877935657 | CRB2 | c.2277G= (p.Trp759=) c.1281G= (p.Trp427=) n.1391G= c.2082G= (p.Trp694=) | dbSNP |