The previously identified pathogenic mutations in the 4 patient study.

<p>The chromosome and position of the mutation is depicted according to the human genome assembly, hg19. Text in bold and italicised highlights high pathogenicity of 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.