Fig. 3

Detection of a gross deletion and a heterozygous pathogenic variant in the WDR19 gene (RefSeq NM_025132) in patient WC5 with a history of end-stage renal disease. a The locations of the deletion and single nucleotide variant in WDR19. The exons 10–13 deletion is indicated by a bar, and the pathogenic variant is indicated by an arrow. b A plot to show the deletion detected by CMA. The deletion is indicated by the red box, and the probes are indicated by bars on the top. c Chromatograph trace to show the heterozygous pathogenic variant detected by ES and confirmed by Sanger sequencing