List of confirmed likely pathogenic mutations in the 20 patient study.

The ID and diagnosis of the cases studied as well as the chromosome and position of the mutation according to the human genome assembly hg19, gene, coding effect, cDNA and protein nomenclature, BLOSUM62, AGVGD class, SIFT prediction, MAPP prediction, zygosity and whether the mutation has been previously implicated into causing disease are shown. Text in bold and italicised highlights high pathogenicity prediction for missense variants. For BLOSUM62, high pathogenicity = <0; AGVGD, high pathogenicity = C15 to C65; SIFT prediction, high pathogenicity = deleterious; MAPP prediction, high pathogenicity = bad. NA = not annotated. Homo = homozygous. Het = heterozygous.