A database of disease-causing mutations within PKD1 and PKD2 has been established (pkdb.mayo.edu (accessed on 30 October 2021)) [20]; over 2000 mutations have been identified as contributing to the pathogenicity in ADPKD, with frameshift mutations accounting for the largest percentage of predicted pathogenic mutations recorded to-date. Here, PKD1 is linked to autosomal dominant polycystic kidney disease.