| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197427615C>T | CA228006 | CRB1 | c.2290C>T (p.Arg764Cys) c.1171C>T (p.Arg391Cys) c.433C>T (p.Arg145Cys) c.1954C>T (p.Arg652Cys) n.191C>T c.2083C>T (p.Arg695Cys) c.2128+5659C>T (n.2128+5659C>T) n.2291C>T n.2499C>T c.1708C>T (p.Arg570Cys) c.733C>T (p.Arg245Cys) c.1447C>T (p.Arg483Cys) n.2243C>T n.2451C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.197427615C>G | CA1312092 | CRB1 | c.2290C>G (p.Arg764Gly) c.1171C>G (p.Arg391Gly) c.433C>G (p.Arg145Gly) c.1954C>G (p.Arg652Gly) n.191C>G c.2083C>G (p.Arg695Gly) c.2128+5659C>G (n.2128+5659C>G) n.2291C>G n.2499C>G c.1708C>G (p.Arg570Gly) c.733C>G (p.Arg245Gly) c.1447C>G (p.Arg483Gly) n.2243C>G n.2451C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |