Bioinformatically relevant variants identified through exome sequencing.

a, nomenclature based on GRCh37 (hg19). CADD, Combined Annotation Dependent Depletion (https://cadd.gs.washington.edu/). PolyPhen2 (http://genetics.bwh.harvard.edu/pph2/). SIFT, Sorting Intolerant From Tolerant (https://sift.bii.a-star.edu.sg/). gnomAD, Genome Aggregation Database (https://gnomad.broadinstitute.org/). (DOCX)