Genomic alterations in DDX41. (A) RNA-sequencing demonstrated retention of intron 6 with a predicted stop codon after 11 residues in a patient with variant c.571G>A, p.(Ala191Thr). (B) RNA-sequencing showed intron retention in the patient with the synonymous variant c.1230G>A, p.(Gln410Gln). Structural variant calling (GRIDSS) identified 2 patients with novel multiexon deletions: NC_000005.9:g.176937300_176939456del (C) and NC_000005.9:g.176941255_176942766del (D).