| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.119278169C>G | CA382912211 | CBL | c.*551C>G (n.*551C>G) c.1099C>G (p.Gln367Glu) c.1093C>G (p.Gln365Glu) | dbSNP |
| 11 | g.119278169C>A | CA183197 | CBL | c.*551C>A (n.*551C>A) c.1099C>A (p.Gln367Lys) c.1093C>A (p.Gln365Lys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.119278169C>T | CA382912213 | CBL | c.*551C>T (n.*551C>T) c.1099C>T (p.Gln367Ter) c.1093C>T (p.Gln365Ter) | dbSNP |