In the second and third scenarios (common peaks and gained in AD), the presence of a single intragenic peak was found to be closely associated with alternative splicing of minor isoforms and/or exon exclusion events (Fig. 5b), possibly explaining perturbations in APP and DNAH6 protein isoforms observed in AD neurons (Fig. 5d and Supplementary Fig. 12). The gene discussed is DNAH6; the disease is Alzheimer disease.