Fig. 2From: Genotyping, generation and proteomic profiling of the first human autosomal dominant osteopetrosis type II-specific induced pluripotent stem cellsa The distribution of the base quality scores in the WES of the three samples, where the X-axis is the positions of the read, and the Y-axis is the quality value of the clean reads. b The distribution of per-base sequencing depth in the WES of the three samples. The X-axis denotes the sequencing depth, and the Y-axis indicates the percentage of total target regions under a given sequencing depth. c The mutation of CLCN7 (R286W) is confirmed by Sanger sequencing. And it is detected in the proband (II1), the father (I1), and the ADO2-iPSCsBack to article page