“…The nonsense variant has been reported in Chinese patients. 2 3 4 The novel missense variant occurs at a highly conserved amino acid across various species ( Figure 1d ). In silico analyses by Sorting Intolerant From Tolerant (SIFT; http://sift.jcvi.org ), ProVean ( http://provean.jcvi.org/index.php ), Polyphen2 ( http://genetics.bwh.harvard.edu/pph2 ), and MutationTaster ( http://www.mutationtaster.org ), all predicted the variant as “deleterious”.…”