Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47408466C>A | CA346729583 | MSH2 | c.277C>A (p.Leu93Ile) c.79C>A (p.Leu27Ile) n.349C>A n.339C>A | dbSNP |
2 | g.47408466C>T | CA020925 | MSH2 | c.277C>T (p.Leu93Phe) c.79C>T (p.Leu27Phe) n.349C>T n.339C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47408466C>G | CA346729584 | MSH2 | c.277C>G (p.Leu93Val) c.79C>G (p.Leu27Val) n.349C>G n.339C>G | ClinVar dbSNP |