design: A genomic DNA sample from an affected individual was sequenced to determine the variants in the complete coding region of the human genome. DNA libraries were pooled and sequenced using the SureSelect v6 capture kit on an Illumina NextSeq500 platform with 80 average on-target coverage.  The Burrows-Wheeler Aligner software package was used for alignment with the reference human genome assembly (GRCh38/Hg38). Indel-realignment, duplicate exclusion, quality recalibration, variant calling, and detection were conducted by means of the Picard and Genome Analysis Toolkit (GATK). ANNOVAR was used to annotate the datasets.