| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47412522C>G | CA46681506 | MSH2 | c.754C>G (p.Gln252Glu) c.556C>G (p.Gln186Glu) n.826C>G n.816C>G | dbSNP |
| 2 | g.47412522C>A | CA346732342 | MSH2 | c.754C>A (p.Gln252Lys) c.556C>A (p.Gln186Lys) n.826C>A n.816C>A | dbSNP |
| 2 | g.47412522C>T | CA022185 | MSH2 | c.754C>T (p.Gln252Ter) c.556C>T (p.Gln186Ter) n.826C>T n.816C>T | ClinVar dbSNP gnomAD v4 |