Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47410304C>T | CA021466 | MSH2 | c.577C>T (p.Gln193Ter) c.379C>T (p.Gln127Ter) n.649C>T n.639C>T | ClinVar dbSNP COSMIC |
2 | g.47410304C>G | CA346730973 | MSH2 | c.577C>G (p.Gln193Glu) c.379C>G (p.Gln127Glu) n.649C>G n.639C>G | dbSNP |
2 | g.47410304C>A | CA346730972 | MSH2 | c.577C>A (p.Gln193Lys) c.379C>A (p.Gln127Lys) n.649C>A n.639C>A | ClinVar dbSNP |