| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197434706G>T | CA344042922 | CRB1 | c.2843G>T (p.Cys948Phe) c.1724G>T (p.Cys575Phe) c.986G>T (p.Cys329Phe) c.2507G>T (p.Cys836Phe) c.2771G>T (p.Cys924Phe) c.2129-894G>T (n.2129-894G>T) n.2844G>T n.3052G>T c.2261G>T (p.Cys754Phe) c.1286G>T (p.Cys429Phe) c.2000G>T (p.Cys667Phe) c.2978G>T (p.Cys993Phe) n.2796G>T n.3004G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197434706G>A | CA228022 | CRB1 | c.2843G>A (p.Cys948Tyr) c.1724G>A (p.Cys575Tyr) c.986G>A (p.Cys329Tyr) c.2507G>A (p.Cys836Tyr) c.2771G>A (p.Cys924Tyr) c.2129-894G>A (n.2129-894G>A) n.2844G>A n.3052G>A c.2261G>A (p.Cys754Tyr) c.1286G>A (p.Cys429Tyr) c.2000G>A (p.Cys667Tyr) c.2978G>A (p.Cys993Tyr) n.2796G>A n.3004G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |