Fig. 2

Trio-whole exome sequencing data analysis, validation and bioinformatics analysis. A. The filtering of the variant of COL17A1 according to ACMG guidelines, and the proband’s clinical features and the variant carriage status of the family members. B. The pedigree of the proband’s family. C and D. The verification of the mutations of COL17A1, c.1880(exon23)delG and BMS1: c.1645(exon10)G > A, through Sanger sequencing. The carriage status of the proband and her father and mother is homozygous, heterozygous and wild-type, respectively. E. The homozygosity (ROH) region in chromosome 10. F. The detection of UPD events through trio analysis using UPDio