(A) Recurrent DDX41 germline variants. Schematic representation of all the germline (DDX41^MutGL) and sporadic (DDX41^MutSom) DDX41 variants described in the literature to date in at least 3 patients. Blue boxes correspond to DDX41 protein domains with numbers indicating protein positions. Based on Li et al classification, CVs are in dark green (germline) and orange (somatic), VUS are in light green, and hotspot mutations are in red. (B) Comparison of DDX41 with other loci predisposing to AML. Length of boxes represents the proportion of patients with AML with germline variants in each gene. Green boxes correspond to genes that are not mutated in sporadic AML (<1%), and blue boxes represent genes with recurrent somatic mutations in sporadic disease. Dark green represents CV DDX41^MutGL, and light green represents VUS DDX41^MutGL.