The Brazilian population, however, is extremely mixed due to intense miscegenation between African, native Indigenous, and European people, which consequently leads to high genetic heterogeneity, as observed in the different genetic profiles of patients with CF, in which p.Phe508del, p.Gly542X, p.Asn1303Lys, p.Gly551Asp, and p.Arg553X pathogenic variants of the CFTR gene were observed in only ~56.0% of CF reported cases, with a wide variation across the Brazilian states [52,53,54,55,56]. The gene discussed is CFTR; the disease is cystic fibrosis.