Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient

Table 1

Variants identified by whole-exome sequencing in combination with PCD-related gene-filtering of the family.

Chr	POS	RB	AB	Gene name	AA change	MutationTaster	Polyphen-2	SIFT
8	133669149	A	C	LRRC6	NM_012472:exon3:c.T183G:p.N61K	Disease causing (0.99)	Damaging; (0.999)	Damaging; (0.00)
8	133669154	C	T	LRRC6	. NM_012472:exon4:c.179-1G>A		-	-
10	28229527	G	T	ARMC4	NM_001290021:exon6:c.C526A:p.P176T,ARMC4:	Polymorphism (0.99)	Damaging; (0.99)	Tolerated; (0.60)
16	70942236	A	G	HYDIN	NM_001270974:exon49:c.T8315C:p.F2772S	Disease causing (0.99)	Damaging; (1)	Damaging; (0.001)
17	78064076	GAAC	G	CCDC40	NM_001243342:exon18:c.2972_2974del:p.991_992del	Polymorphism (0.99)	-	-

CHR = chromosome; POS = position; RB = reference sequence base; AB = alternative base identified.