Table II. Characteristics of the variants identified in the affected members of the studied family.

CADD: Combined annotation dependent depletion; ICK: intestinal cell kinase; FATHMM: functional analysis through Hidden Markov Models (v2.3); mCSM-NA: effects of mutations on protein-nucleic acids interactions; N/A: not applicable; PhyloP: phylogenetic p-values; PolyPhen: polymorphism phenotyping; SIFT: sorting intolerant from tolerant. *http://biosig.unimelb.edu.au/mcsm_na/prediction.