| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47478422del | CA2499216069 | MSH2 | c.2361del (p.Thr788LeufsTer24) c.2163del (p.Thr722LeufsTer24) c.*661del (n.*661del) c.214del c.*757del (n.*757del) c.*901del (n.*901del) c.*1127del (n.*1127del) c.*1333del (n.*1333del) c.2360del (p.Leu787TyrfsTer11) n.2433del n.2423del | ClinVar dbSNP |
| 2 | g.47478422dup | CA331504 | MSH2 | c.2361dup (p.Thr788TyrfsTer11) c.2163dup (p.Thr722TyrfsTer11) c.*661dup (n.*661dup) c.214dup c.*757dup (n.*757dup) c.*901dup (n.*901dup) c.*1127dup (n.*1127dup) c.*1333dup (n.*1333dup) c.2360dup (p.Leu787PhefsTer?) n.2433dup n.2423dup | ClinVar dbSNP |
| 2 | g.47478421_47478422dup | CA020503 | MSH2 | c.2360_2361dup (p.Thr788LeufsTer25) c.2162_2163dup (p.Thr722LeufsTer25) c.*660_*661dup (n.*660_*661dup) c.213_214dup c.*756_*757dup (n.*756_*757dup) c.*900_*901dup (n.*900_*901dup) c.*1126_*1127dup (n.*1126_*1127dup) c.*1332_*1333dup (n.*1332_*1333dup) c.2359_2360dup (p.Leu787PhefsTer12) n.2432_2433dup n.2422_2423dup | ClinVar dbSNP |