DNA-Seq of bloodadult female
an enriched DNA sample was sequenced using the HiSeq X Analyzer (Illumina, San Diego, CA). All variants were filtered and estimated using multiple databases, including the 1000 Genomes Project, Genome Aggregation, and ExAC databases. SIFT, CADD, and PolyPhen-2 were used to predict the effects of variants. The HGMD and ClinVar database were used to screen for mutations reported in published studies.