Fig. 1

Whole-exome sequencing in the proband. The figure shows the alignment of the reads around the pathogenic variant (c.1252C>T:p.Arg418Trp) of the BAM file visualized using the GenomeBrowse software (Golden Helix, Inc. USA) (https://www.goldenhelix.com/products/GenomeBrowse/). The top panel illustrates the coverage of the reads, and the middle panel shows the actual mapping of the reads with blue indicating forward reads and green indicating reverse reads. The bottle panel shows the reference genome (CRCH37) and information from the gnomAD and ClinVar databases