Top risk DNMs identified in this study.

AA, total amino acids. All predictions by SIFT (http://sift.jcvi.org/), PFF2 (PolyPhen-2; http://genetics.bwh.harvard.edu/pph2/) and PROVEAN (PVN; (http://provean.jcvi.org/genome_submit.php) were damaging (scores indicated in parenthesis). CSS, Canonical splice site.Top risk DNMs identified in this study.AA：总氨基酸（total amino acids）。经SIFT（http://sift.jcvi.org/）、PFF2（PolyPhen-2；http://genetics.bwh.harvard.edu/pph2/）及PROVEAN（PVN；http://provean.jcvi.org/genome_submit.php）所得的全部预测结果均为有害变异，具体分值标注于括号内。CSS：经典剪接位点（Canonical splice site）。本研究鉴定出的高风险新发突变（de novo mutations，DNMs）。