Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47410199C>G | CA346730565 | MSH2 | c.472C>G (p.Gln158Glu) c.274C>G (p.Gln92Glu) n.544C>G n.534C>G | dbSNP gnomAD v4 |
2 | g.47410199C>A | CA346730563 | MSH2 | c.472C>A (p.Gln158Lys) c.274C>A (p.Gln92Lys) n.544C>A n.534C>A | dbSNP |
2 | g.47410199C>T | CA021185 | MSH2 | c.472C>T (p.Gln158Ter) c.274C>T (p.Gln92Ter) n.544C>T n.534C>T | ClinVar dbSNP |