WES of the samples from the 26 ADPKD patients (known to have ADPKD before study enrolment) identified 27 variants in PKD1 (including 6 novel variants) and 5 variants in PKD2. Of the 27 PKD1 variants, 12 were synonymous changes, 12 were non-synonymous changes and the remaining 3 were insertions/deletions. Here, PKD1 is linked to autosomal dominant polycystic kidney disease.