Whole Exome Sequence of Homo Sapiens: Adult male blood
. All isolated genomic DNA samples were quantified using a NanoDrop 1000 spectrophotometer (Thermo Fisher Scientific). Whole exome sequencing was carried out for the proband. The Agilent SureSelect Human All Exome V7 kit was used for exome capture. Sequencing was performed on an Illumina NovaSeq 6000 platform (Macrogen Facility, Seoul, Korea) with 150-bp paired-end runs and an average coverage of 100X.