Related to Fig. 1. (A) Graphic representation of the CADD score as a function of the minor allele frequency (MAF) of the heterozygous predicted LOF and missense variants of IRF4 reported in gnomAD and the laboratory’s WD cohort database. The dotted line corresponds to the mutation significance cutoff (MSC) with its 99% confidence interval. The DBD variants are shown in color on the figure. (B) AlphaMissense score according to amino acid position within IRF4. (C) Alignment of the p.R25 residue (indicated in red) and p.R98 residue (indicated in blue) in the DBD domain of IRF4 between humans and 11 other animal species. (D) Alignment of the p.R25 residue (indicated in red) and p.R98 residue (indicated in blue) within the IRF family.