WES in NA. Integrated genome browser view of reads from select regions of the VPS13A gene generated by exome sequencing. (A) Exon 69. Approximately half of full-length reads have A instead of G, leading to a missense mutation, thereby disrupting the exon 69 donor splice junction. (B) Exon 58. Approximately half of full-length reads lack 4 nucleotides, TAAG, corresponding to the end of exon 58 and the first nucleotide of intron 58.