Due to the specificity of CLCN7 induced osteopetrosis, which means that biallelic CLCN7 pathogenic mutations lead to ARO and heterozygous pathogenic mutations lead to ADO, we analyzed the concordance between biallelic pathogenic mutations and heterozygous mutation samples, as shown in Figure 3 and Table 2. The gene discussed is CLCN7; the disease is osteopetrosis.