| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197477817G>T | CA10581633 | CRB1 | c.4159G>T (p.Glu1387Ter) c.3823G>T (p.Glu1275Ter) c.393G>T (n.393G>T) c.*270G>T (n.*270G>T) c.4087G>T (p.Glu1363Ter) c.2551G>T (p.Glu851Ter) n.4160G>T n.4610G>T c.*264G>T (n.*264G>T) c.*138G>T (n.*138G>T) c.3577G>T (p.Glu1193Ter) c.2602G>T (p.Glu868Ter) c.3316G>T (p.Glu1106Ter) c.4294G>T (p.Glu1432Ter) n.4112G>T n.4562G>T | ClinVar dbSNP |
| 1 | g.197477817G= | CA1218087268 | CRB1 | c.4159G= (p.Glu1387=) c.3823G= (p.Glu1275=) c.393G= (n.393G=) c.*270G= (n.*270G=) c.4087G= (p.Glu1363=) c.2551G= (p.Glu851=) n.4160G= n.4610G= c.*264G= (n.*264G=) c.*138G= (n.*138G=) c.3577G= (p.Glu1193=) c.2602G= (p.Glu868=) c.3316G= (p.Glu1106=) c.4294G= (p.Glu1432=) n.4112G= n.4562G= | dbSNP |