| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47414368C>A | CA346732924 | MSH2 | c.892C>A (p.Gln298Lys) c.694C>A (p.Gln232Lys) n.964C>A n.954C>A | dbSNP |
| 2 | g.47414368C>G | CA346732925 | MSH2 | c.892C>G (p.Gln298Glu) c.694C>G (p.Gln232Glu) n.964C>G n.954C>G | dbSNP |
| 2 | g.47414368C>T | CA022486 | MSH2 | c.892C>T (p.Gln298Ter) c.694C>T (p.Gln232Ter) n.964C>T n.954C>T | ClinVar dbSNP gnomAD v4 |
| 2 | g.47414368C= | CA2495834008 | MSH2 | c.892C= (p.Gln298=) c.694C= (p.Gln232=) n.964C= n.954C= | dbSNP |