PKD1 and autosomal dominant polycystic kidney disease: From the genotype aspect, ADPKD-associated PKD1 mutations were mainly monoallelic, and majority of the mutations were destructive (Sandford, 2009; Cornec-Le Gall et al., 2014; Lanktree et al., 2021), implying that monoallelic mutations with haploinsufficiency of PKD1 potentially caused kidney disease.