Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47408529G>A | CA346730039 | MSH2 | c.340G>A (p.Glu114Lys) c.142G>A (p.Glu48Lys) n.412G>A n.402G>A | dbSNP |
2 | g.47408529G>C | CA346730042 | MSH2 | c.340G>C (p.Glu114Gln) c.142G>C (p.Glu48Gln) n.412G>C n.402G>C | dbSNP |
2 | g.47408529G>T | CA10581993 | MSH2 | c.340G>T (p.Glu114Ter) c.142G>T (p.Glu48Ter) n.412G>T n.402G>T | ClinVar dbSNP |