The pathogenic and likely pathogenic germline variants identified in DDX41. (A) Location of DDX41 P/LP variants, with the number of unique patients shown in parentheses. (B) Co-occurring somatic mutations as determined by clinical panel (*) and/or whole-exome sequencing (colored squares) for the patients with P/LP germline variants in DDX41. (C) Pedigree of 2 families with history of hematological malignancies and a P/LP germline variant identified in the DDX41 gene in the proband. The number designated by “dx.” indicates the age at diagnosis. The age at diagnosis is unknown for individuals if not indicated in the pedigree.