Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.136518597G>A | CA16618805 | NOTCH1 | c.1093C>T (p.Arg365Cys) c.*329C>T (n.*329C>T) c.394C>T (p.Arg132Cys) c.370C>T (p.Arg124Cys) | ClinVar dbSNP COSMIC COSMIC |
9 | g.136518597G>T | CA375565239 | NOTCH1 | c.1093C>A (p.Arg365Ser) c.*329C>A (n.*329C>A) c.394C>A (p.Arg132Ser) c.370C>A (p.Arg124Ser) | dbSNP COSMIC COSMIC |
9 | g.136518597G>C | CA375565240 | NOTCH1 | c.1093C>G (p.Arg365Gly) c.*329C>G (n.*329C>G) c.394C>G (p.Arg132Gly) c.370C>G (p.Arg124Gly) | dbSNP |