patient1 WES
Exome sequencing libraries were constructed using the SureSelectXT Human All Exome V6/V6 + UTRs kit. The PCR products were validated by an Agilent 2100 Bioanalyzer (Agilent Technologies), and quantified by Qubit3.0. Dynabeads MyOne Streptavidin T1 magnetic beads were used to capture exons. Each sample was then amplified by PCR P5 and P7 primers (P7 primer containing 8bp index for further sample identification).