Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.119278541G>A | CA123490 | CBL | c.*711G>A (n.*711G>A) c.1259G>A (p.Arg420Gln) c.1253G>A (p.Arg418Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.119278541G>T | CA382913849 | CBL | c.*711G>T (n.*711G>T) c.1259G>T (p.Arg420Leu) c.1253G>T (p.Arg418Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.119278541G>C | CA382913844 | CBL | c.*711G>C (n.*711G>C) c.1259G>C (p.Arg420Pro) c.1253G>C (p.Arg418Pro) | ClinVar dbSNP gnomAD v4 COSMIC |