Variant burden in HHT cohort compared with general population. (A) Number of variants in the 75 study genes by category, within the gnomAD 3.1.2 dataset (blue) and current cohort (red) per genome. (B) gnomAD 3.1.2 dataset loss of function (pLOF) variants compared with CADD >15 genes in study cohort per genome, with mean and standard error illustrated. (C) Fold-enriched total number of deleterious variants per category, in all 75 genes, for HHT CADD >15 variants compared with pLOF variants in gnomAD 3.1.2 dataset.⁶⁹  (D) Comparison of fold-enriched deleterious variants limiting to HHT CADD >15 variants and gnomAD pLOF variants in the same genes. P value calculated by Mann-Whitney test.