In this study, 104 patients with CAVD were recruited in Central China, and provided gene detection by the whole-exome sequencing, among them 69% (72/104) carried at least one variant in CFTR and one carried adhesion G protein-coupled receptor G2 (ADGRG2) variant. The gene discussed is CFTR; the disease is congenital bilateral aplasia of vas deferens from CFTR mutation.