| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47412455del | CA021998 | MSH2 | c.687del (p.Ala230LeufsTer16) c.489del (p.Ala164LeufsTer16) n.759del n.749del | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.47412455dup | CA021991 | MSH2 | c.687dup (p.Ala230SerfsTer2) c.489dup (p.Ala164SerfsTer2) n.759dup n.749dup | ClinVar dbSNP gnomAD v4 |
| 2 | g.47412454_47412455del | CA021960 | MSH2 | c.686_687del (p.Lys229SerfsTer2) c.488_489del (p.Lys163SerfsTer2) n.758_759del n.748_749del | ClinVar dbSNP |