| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47410211G>C | CA346730616 | MSH2 | c.484G>C (p.Gly162Arg) c.286G>C (p.Gly96Arg) n.556G>C n.546G>C | dbSNP |
| 2 | g.47410211G>T | CA346730617 | MSH2 | c.484G>T (p.Gly162Ter) c.286G>T (p.Gly96Ter) n.556G>T n.546G>T | ClinVar dbSNP |
| 2 | g.47410211G>A | CA021199 | MSH2 | c.484G>A (p.Gly162Arg) c.286G>A (p.Gly96Arg) n.556G>A n.546G>A | ClinVar dbSNP gnomAD v4 |