| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197427726A>T | CA203531 | CRB1 | c.2401A>T (p.Lys801Ter) c.1282A>T (p.Lys428Ter) c.544A>T (p.Lys182Ter) c.2065A>T (p.Lys689Ter) n.302A>T c.2194A>T (p.Lys732Ter) c.2128+5770A>T (n.2128+5770A>T) n.2402A>T n.2610A>T c.1819A>T (p.Lys607Ter) c.844A>T (p.Lys282Ter) c.1558A>T (p.Lys520Ter) n.2354A>T n.2562A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197427726A= | CA1141581333 | CRB1 | c.2401A= (p.Lys801=) c.1282A= (p.Lys428=) c.544A= (p.Lys182=) c.2065A= (p.Lys689=) n.302A= c.2194A= (p.Lys732=) c.2128+5770A= (n.2128+5770A=) n.2402A= n.2610A= c.1819A= (p.Lys607=) c.844A= (p.Lys282=) c.1558A= (p.Lys520=) n.2354A= n.2562A= | dbSNP |