| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197435404T>G | CA344049641 | CRB1 | c.3541T>G (p.Cys1181Gly) c.2422T>G (p.Cys808Gly) c.1684T>G (p.Cys562Gly) c.3205T>G (p.Cys1069Gly) c.3469T>G (p.Cys1157Gly) c.2129-196T>G (n.2129-196T>G) n.3542T>G n.3750T>G c.2959T>G (p.Cys987Gly) c.1984T>G (p.Cys662Gly) c.2698T>G (p.Cys900Gly) c.3676T>G (p.Cys1226Gly) n.3494T>G n.3702T>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197435404T>C | CA228041 | CRB1 | c.3541T>C (p.Cys1181Arg) c.2422T>C (p.Cys808Arg) c.1684T>C (p.Cys562Arg) c.3205T>C (p.Cys1069Arg) c.3469T>C (p.Cys1157Arg) c.2129-196T>C (n.2129-196T>C) n.3542T>C n.3750T>C c.2959T>C (p.Cys987Arg) c.1984T>C (p.Cys662Arg) c.2698T>C (p.Cys900Arg) c.3676T>C (p.Cys1226Arg) n.3494T>C n.3702T>C | ClinVar dbSNP |
| 1 | g.197435404T>A | CA344049639 | CRB1 | c.3541T>A (p.Cys1181Ser) c.2422T>A (p.Cys808Ser) c.1684T>A (p.Cys562Ser) c.3205T>A (p.Cys1069Ser) c.3469T>A (p.Cys1157Ser) c.2129-196T>A (n.2129-196T>A) n.3542T>A n.3750T>A c.2959T>A (p.Cys987Ser) c.1984T>A (p.Cys662Ser) c.2698T>A (p.Cys900Ser) c.3676T>A (p.Cys1226Ser) n.3494T>A n.3702T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197435404T= | CA1140762968 | CRB1 | c.3541T= (p.Cys1181=) c.2422T= (p.Cys808=) c.1684T= (p.Cys562=) c.3205T= (p.Cys1069=) c.3469T= (p.Cys1157=) c.2129-196T= (n.2129-196T=) n.3542T= n.3750T= c.2959T= (p.Cys987=) c.1984T= (p.Cys662=) c.2698T= (p.Cys900=) c.3676T= (p.Cys1226=) n.3494T= n.3702T= | dbSNP |