Fig. 3
From: Lessons learned from additional research analyses of unsolved clinical exome cases
Location of DHX30 and GNB5 variants, dinucleotide variants culled from WES data and UPD. a Variants identified in DHX30 and GNB5 are located in specific protein domains. b Sanger confirmation of a de novo dinucleotide variant in SYN3. c The B-allele frequency extracted from WES data in the patient with the homozygous SLC1A4 variant showed a single region of AOH in the genome (chromosome 2), suggestive of uniparental disomy (UPD) of chromosome 2. d Segregation analysis of the SLC1A4 homozygous variant did not conform to Mendelian expectations