Figure 2. The distribution and allele count of heterozygous GJA1 variants identified in the general population in the gnomAD database, DMs in HGMD, and PPVs from in-house exome sequencing data. A: The spectrum of variants with minor allele frequency <0.01 in the gnomAD database, disease causing mutation (DM) in human gene mutation database (HGMD), and four potentially pathogenic variants (PPVs) from in-house exome sequencing data. B: The distribution and allele count of truncation variants from the gnomAD database, HGMD, and the study cohort. Connexin domain: p.3–233; Cx43, connexin 43 domain: p.293–312. Transmembrane region 1: p.19–46, transmembrane region 2: p.72–100, transmembrane region 3: p.147–184, transmembrane region 4: p.206–233. C: The distribution of reported biallelic GJA1 truncation variants. Variants marked with the same letters were identified in the same individual.