A91V/pLOF in the UKB. (A) Prevalence of various PRF1 A91V allele constellations in the UKB. Prevalence of A91V/WT and A91V/A91V is calculated for the UKB total. Prevalence of A91V/pLOF (with in trans phasing) is calculated in phased UKB individuals only. (B) Upper part shows PRF1 variants listed in the HGMD as disease mutations (pLOFdm) and possible disease mutations (pLOFpdm) and present in coinheritance with A91V in the UKB. Lower part shows distribution of potentially FHL2-related phenotypes in A91V/pLOF and non-A91V/pLOF individuals in the UKB for A91V/pLOFdm only (lower left) or disease and possible disease mutations combined (lower right, A91V/pLOFdm+pdm). Indicated is the OR and 95% CI for an individual with A91V/pLOF genotype to be located in the target group of potentially FHL2-related phenotypes. (C) Phenotype by type of PRF1 pLOF mutation in trans to A91V. Percentage distribution of 39 symptomatic A91V/pLOF carriers and 34 asymptomatic A91V/pLOF carriers (13 in clinical cohort and 21 in the UKB with HGMD disease mutation in trans to A91V). 95% CI, 95% confidence interval; OR, odds ratio.