| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47410215T>A | CA021206 | MSH2 | c.488T>A (p.Val163Asp) c.290T>A (p.Val97Asp) n.560T>A n.550T>A | ClinVar dbSNP |
| 2 | g.47410215T>G | CA021209 | MSH2 | c.488T>G (p.Val163Gly) c.290T>G (p.Val97Gly) n.560T>G n.550T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.47410215T>C | CA10577939 | MSH2 | c.488T>C (p.Val163Ala) c.290T>C (p.Val97Ala) n.560T>C n.550T>C | ClinVar dbSNP |