Characterization of the germline DDX41 mutated patients. (A) Flowchart of the study. (B) Graphical representation of DDX41 variants found in this study positioned on the DDX41 protein sequence, with its major functional domains. Germline variants (red) are in the upper part, and somatic variants (pink) in the lower part. Germline variants of unknown significance (VUSs) are represented in dark red. Previously reported variants are in bold. (C) Integrated matrix of the molecular, cytogenetic, and cytologic characteristics of the 33 patients with a causal germline DDX41 variant. The number reported in the box represents the VAF of each mutation. (D) Overall survival of 18 high-risk MDS/AML germline DDX41-mutated patients compared with a matched control cohort of 186 high-risk MDS/AML DDX41 wild-type patients. MAF, minor allele frequency.