TSC1 and tuberous sclerosis: The majority of the variants had been reported previously in other TSC cohorts but 45 were novel, as defined by their absence from the HGMD (http://www.hgmd.cf.ac.uk/ac/index.php), LOVD (Leiden Open Variation Database (http://chromium.lovd.nl/LOVD2/TSC/home.php?select_db=TSC1)), and Clin Var (https://www.ncbi.nlm.nih.gov/clinvar/).