| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.28695719del | CA288270 | CHEK2 | c.1009-473del (n.1009-473del) c.1053del (p.Phe351LeufsTer19) c.1254del (p.Phe418LeufsTer19) c.591del (p.Phe197LeufsTer19) c.594del (p.Phe198LeufsTer19) n.806del c.1167del (p.Phe389LeufsTer19) c.1383del (p.Phe461LeufsTer19) c.981del (p.Phe327LeufsTer19) c.*744del (n.*744del) c.1163del (n.1163del) c.1192del (n.1192del) c.485del c.1144del (n.1144del) c.263+4123del c.774del (p.Phe258LeufsTer19) c.711del (p.Phe237LeufsTer19) c.1413del (p.Phe471LeufsTer19) c.1326del (p.Phe442LeufsTer19) c.1182del (p.Phe394LeufsTer19) c.1083del (p.Phe361LeufsTer19) n.1413del c.807del (p.Phe269LeufsTer19) c.1377del (p.Phe459LeufsTer19) c.1284del (p.Phe428LeufsTer19) c.1197del (p.Phe399LeufsTer19) n.1424del | ClinVar dbSNP ExAC |
| 22 | g.28695719dup | CA2580099468 | CHEK2 | c.1009-473dup (n.1009-473dup) c.1053dup (p.Ile352TyrfsTer4) c.1254dup (p.Ile419TyrfsTer4) c.591dup (p.Ile198TyrfsTer4) c.594dup (p.Ile199TyrfsTer4) n.806dup c.1167dup (p.Ile390TyrfsTer4) c.1383dup (p.Ile462TyrfsTer4) c.981dup (p.Ile328TyrfsTer4) c.*744dup (n.*744dup) c.1163dup (n.1163dup) c.1192dup (n.1192dup) c.485dup c.1144dup (n.1144dup) c.263+4123dup c.774dup (p.Ile259TyrfsTer4) c.711dup (p.Ile238TyrfsTer4) c.1413dup (p.Ile472TyrfsTer4) c.1326dup (p.Ile443TyrfsTer4) c.1182dup (p.Ile395TyrfsTer4) c.1083dup (p.Ile362TyrfsTer4) n.1413dup c.807dup (p.Ile270TyrfsTer4) c.1377dup (p.Ile460TyrfsTer4) c.1284dup (p.Ile429TyrfsTer4) c.1197dup (p.Ile400TyrfsTer4) n.1424dup | ClinVar dbSNP |