| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47410235C>A | CA346730695 | MSH2 | c.508C>A (p.Gln170Lys) c.310C>A (p.Gln104Lys) n.580C>A n.570C>A | ClinVar dbSNP |
| 2 | g.47410235C>T | CA021248 | MSH2 | c.508C>T (p.Gln170Ter) c.310C>T (p.Gln104Ter) n.580C>T n.570C>T | ClinVar dbSNP |
| 2 | g.47410235C>G | CA039073 | MSH2 | c.508C>G (p.Gln170Glu) c.310C>G (p.Gln104Glu) n.580C>G n.570C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |