Fig. 1: Summary of the DDX41 aggregated synthetic cohort.
From: Refinement of the classification of DDX41 variants through analysis of aggregated clinical datasets

A Flow diagram illustrating the literature review process for identifying published DDX41 variants, with a cut-off date of 17-Aug-2024. *A single-center study cohort was reported in two separate publications. **Cases from the Peter MacCallum Cancer Centre (PMCC) were published in Wells et al. [17]. B Distribution of 450 distinct germline DDX41 variants across the cohort sources. C Number of distinct DDX41 variants by variant type.