TABLE 2.

High priority variants identified after streamlining of deep sequencing output

Known disease causing variants Novel variants in genes known to cause the phenotype Novel variants in the class of genes known to cause the phenotype Novel variants in genes not previously not implicated in the pathogenesis of the phenotype De novo variants that co-segregate with the phenotype in subsequent generations Type of the variants: ○Insertion/deletion mutations leading to frame-shift and premature termination ○Stop codon ▪Premature termination of the protein ▪Elongation of the protein ○Non-synonymous variants ▪Affecting highly conserved amino acids ○Splice junction variants ○Regulatory variants