表 1.

3位患者SUN5基因变异的致病性评价

Pathogenicity prediction of SUN5 gene mutation in 3 patients

Cases	Mutations	Amino acid change	Zygosity	SIFT	Mutation Taster	Polyphen-2
Hom, Homozygous; Het, Heterozygous; NA, not available.
1	c.7C>T	p.Arg3Trp	Hom	Damaging	Disease causing	Probably damaging
2	c.1067G>A	p.Arg356His	Het	Damaging	Disease causing	Probably damaging
	c.216G>A	p.Trp72*	Het	NA	Disease causing	NA
3	c.1043A>T	p.Asn348Ile	Hom	Damaging	Disease causing	Probably damaging