Figure 1.

Distributions of genotypes containing the 20 most prevalent mutant cystic fibrosis transmembrane conductance regulator (CFTR) alleles among individuals in the US with CF. Genotypes (each consisting of two CFTR alleles) are shown for individuals with CF followed in the 2012 US CF Foundation Patient Registry (CFFPR).¹⁹ The 20 most prevalent mutant CFTR alleles are shown in the same order on each axis with each possible genotype represented by only one bar and homozygous genotypes found on the front diagonal. The most prevalent genotype is F508del/F508del (far left). F508del compound heterozygotes are the remainder of bars along the first CFTR allele ‘wall’. Those genotypes for which there is currently an approved CFTR modulator are highlighted with dark bars. The same data are depicted in (A and B), but with the Y-axis shown as linear in (A) and log₁₀ scale in (B).