From this cohort of 543 patients who presented with a clinical diagnosis suggestive of ADPKD, 20 cases were excluded because of incomplete clinical data (n = 7); non-ADPKD diagnoses (n = 8) including simple cysts (n = 4), peri-pelvic cysts (n = 2), congenital anomalies of the kidney and urinary tract (n = 1), and cystic disease related to a COL4A1 mutation (n = 1); complex diagnoses of ADPKD with a second kidney disease (n = 2); and no PKD1 and PKD2 mutation results available (n = 3) (Supplementary Fig. S1). Here, PKD2 is linked to autosomal dominant polycystic kidney disease.