| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47410148A>T | CA346730439 | MSH2 | c.421A>T (p.Met141Leu) c.223A>T (p.Met75Leu) n.493A>T n.483A>T | dbSNP |
| 2 | g.47410148A>G | CA021148 | MSH2 | c.421A>G (p.Met141Val) c.223A>G (p.Met75Val) n.493A>G n.483A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47410148A= | CA2495831158 | MSH2 | c.421A= (p.Met141=) c.223A= (p.Met75=) n.493A= n.483A= | dbSNP |