| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47410205C>G | CA346730594 | MSH2 | c.478C>G (p.Gln160Glu) c.280C>G (p.Gln94Glu) n.550C>G n.540C>G | ClinVar dbSNP |
| 2 | g.47410205C>A | CA346730592 | MSH2 | c.478C>A (p.Gln160Lys) c.280C>A (p.Gln94Lys) n.550C>A n.540C>A | ClinVar dbSNP |
| 2 | g.47410205C>T | CA021192 | MSH2 | c.478C>T (p.Gln160Ter) c.280C>T (p.Gln94Ter) n.550C>T n.540C>T | ClinVar dbSNP |