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Table 5 Summary of CEBPA mutations detected in 21 acute myeloid leukemia patients

From: Germline mutations among Polish patients with acute myeloid leukemia

Mutation status Mutation 1 Mutation 2 (Mutation 3) No. of patients
N-terminal
AA 1-120
Middle
AA 121–277
 C-terminal
AA 278–358
 N-terminal
AA 1-120
Middle
AA 121–277
 C-terminal
AA 278–358
CEBPA-single p.Ala113ArgfsTer54*       1
  p.Ala134=      1
  p.His191=      1
  p.Pro198_Ala199dup*      4
  p.Thr230=*      11
CEBPA-double p.Gly96AlafsTer56     p.Thr230=* (p.Lys313dup) 1
p.Ser61ValfsTer47     p.Thr230=*   1
  p.Phe179Ser    p.Thr230=*   1
  1. (*) – germline mutation