Table 1.

List of homozygous nucleotide variants which showed autosomal recessive inheritance pattern in CD family.

No.	Gene name	Chromosomal position	Ref/Alt Bases	Effect	HGVS.c	HGVS.p	dbSNP ID	1000G	ExAC
1	HEBP1	12: 13,000,192	C/CGGCGGCAGGGCGGCAG	5′ UTR variant	c.-94_-79dupCTGCCGCCCTGCCGCC	.	rs71064363	.	.
2	NFATC1	18: 79,400,367	C/CGCCCCG	5′ UTR variant	c.-14_-9dupCGGCCC	.	rs749710747	.	.
3	CPED1	7: 120,989,862	A/G	Missense variant	c.241A > G	p.T81A	rs117047013	0.0011	0.0011