All patients had previously undergone standard diagnostic genetic testing via LR-PCR of PKD1 and PKD2 coding regions and massively parallel sequencing of this PCR-product (2 probands) or diagnostic genome sequencing with analysis targeted to coding regions of a cystic kidney disease gene panel (6 probands) or both (1 participant) (Supplementary Table 2). The gene discussed is PKD1; the disease is cystic kidney disease.