The patients who carried other 3 variants (p.Arg106His, p.Gln164Pro and p.Val212Leu) did not carry common pathogenic mutations related to ALS, such as mutations in SOD1, TARDBP, FUS, and C9ORF72 (Supplementary Figure 1). The gene discussed is C9orf72; the disease is amyotrophic lateral sclerosis.