Figure 1. The pedigree and sequence chromatograms of the four probands with PPVs in GJA1. A, B: Mx, mutant allele. Filled squares (male) or circles (female) represent these affected individuals, and the arrow indicates the proband in each family. The accession number of the corresponding human GJA1 transcript is NM_000165. C: Conservation analysis of the positions related to two missense and one in-frame deletion variants from the in-house data in multiple vertebrates.