ADPKD/PKD-associated PKD1 mutations were mainly monoallelic mutations (90.9%, 2360/2599), among which majority (72.3%, 1706/2360) were destructive mutations, including nonsense, splicing defects, frameshifting, in frame deletion/insertions, and large rearrangements. Here, PKD1 is linked to autosomal dominant polycystic kidney disease.