PKD1 and autosomal dominant polycystic kidney disease: The ADPKD Variant Database (http://pkdb.mayo.edu/) describes > 2000 pathogenic mutations (2110 in PKD1 and 505 in PKD2 as of Sep 2, 2023) (Audrézet et al. 2012; Cornec-Le Gall et al. 2013), which including our recent data on an ADPKD-specific mutation (PKD1 c.8311 G > A).