Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.119278170A>C | CA123484 | CBL | c.*552A>C (n.*552A>C) c.1100A>C (p.Gln367Pro) c.1094A>C (p.Gln365Pro) | ClinVar dbSNP COSMIC |
11 | g.119278170A>G | CA6318431 | CBL | c.*552A>G (n.*552A>G) c.1100A>G (p.Gln367Arg) c.1094A>G (p.Gln365Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |