PKD1 and autosomal dominant polycystic kidney disease: We discovered 16 novel PKD1 gene mutation sites and two novel PKD2 gene mutation sites that can enrich the PKDB and are significant in genetic counseling for ADPKD patients, and the use of effective targeted NGS method in the molecular diagnosis of ADPKD will increase the number of studied families and expand the mutation database of ADPKD.