Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.119278181T>G | CA382912301 | CBL | c.*563T>G (n.*563T>G) c.1111T>G (p.Tyr371Asp) c.1105T>G (p.Tyr369Asp) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.119278181T>A | CA296015 | CBL | c.*563T>A (n.*563T>A) c.1111T>A (p.Tyr371Asn) c.1105T>A (p.Tyr369Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.119278181T>C | CA123492 | CBL | c.*563T>C (n.*563T>C) c.1111T>C (p.Tyr371His) c.1105T>C (p.Tyr369His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |