Figure 2.

Genetic characteristics of DDX41^MutGL AML (n = 191). (A) Germline (top) and somatic (bottom) DDX41 variants identified in the present study. Functional domains are shown. Null variants (nonsense, frameshift, canonical ± 1 or 2 splice sites, and initiation codon) are in red; other variants (missense and inframe) are in blue. The figure was made with the PECAN online tool.⁴⁸ (B) Proportions of the most common DDX41^MutGL mutations identified in this study (only variants found in at least 3 patients are shown). (C) Proportions of DDX41^MutSom mutations in patients with AML grouped according to the type of DDX41^MutGL mutations. (D) Molecular and cytogenetic characteristics of the DDX41^MutGL patients at AML diagnosis according to the cohort.