| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47429930_47429934delinsGAAAAG | CA891842938 | MSH2 | c.1265_1269delinsGAAAAG (p.Glu422GlyfsTer4) c.1067_1071delinsGAAAAG (p.Glu356GlyfsTer4) c.*31_*35delinsGAAAAG (n.*31_*35delinsGAAAAG) c.*237_*241delinsGAAAAG (n.*237_*241delinsGAAAAG) n.1337_1341delinsGAAAAG n.1327_1331delinsGAAAAG | ClinVar dbSNP |
| 2 | g.47429934dup | CA017700 | MSH2 | c.1269dup (p.His424ThrfsTer2) c.1071dup (p.His358ThrfsTer2) c.*35dup (n.*35dup) c.*241dup (n.*241dup) n.1341dup n.1331dup | ClinVar dbSNP |