| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.123363039C>A | CA5231590 | CRB2 | c.269C>A (p.Thr90Asn) c.74C>A (p.Thr25Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.123363039C>T | CA374853872 | CRB2 | c.269C>T (p.Thr90Ile) c.74C>T (p.Thr25Ile) | dbSNP |
| 9 | g.123363039C>G | CA5231591 | CRB2 | c.269C>G (p.Thr90Ser) c.74C>G (p.Thr25Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |