| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47410115C>T | CA16610998 | MSH2 | c.388C>T (p.Gln130Ter) c.190C>T (p.Gln64Ter) n.460C>T n.450C>T | ClinVar dbSNP |
| 2 | g.47410115C>G | CA346730363 | MSH2 | c.388C>G (p.Gln130Glu) c.190C>G (p.Gln64Glu) n.460C>G n.450C>G | ClinVar dbSNP |