| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47410274C>G | CA346730871 | MSH2 | c.547C>G (p.Gln183Glu) c.349C>G (p.Gln117Glu) n.619C>G n.609C>G | ClinVar dbSNP gnomAD v4 |
| 2 | g.47410274C>A | CA346730870 | MSH2 | c.547C>A (p.Gln183Lys) c.349C>A (p.Gln117Lys) n.619C>A n.609C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47410274C>T | CA021358 | MSH2 | c.547C>T (p.Gln183Ter) c.349C>T (p.Gln117Ter) n.619C>T n.609C>T | ClinVar dbSNP |