PKD1 and autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis: According to the Human Gene Mutation Database professional 2020.1 (HGMD, https://portal.biobase-international.com/hgmd/pro/all.php), 1227 damaging variants have been reported in TSC2. Of these, 176 (14.3%) were gross deletions, and 32 (2.6%) involved simultaneous deletion of the adjacent PKD1 gene, although the number of variants does not directly indicate the prevalence of PKDTS.