Table 2.

List of compound heterozygous nucleotide variants following 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	CYP27B1	12: 57,766,052	G/C	Missense variant	c.341C > G	p.T114R	rs1247839240	.	.
	CYP27B1	12: 57,766,119	C/T	Missense variant	c.274G > A	p.A92T	rs958027919	.	.
2	HIF1A	14–61,697,832	A/AT	5′ UTR variant	c.-9dupT	.	rs769491528	.	.
	HIF1A	14–61,738,090	C/T	Missense variant	c.1325C > T	p.T442I	rs41508050	0.0039	0.0036
3	SMAD4	18: 51,082,732	G/GT	3′ UTR variant	c.*4277dupT	.	rs559471969	.	.
	SMAD4	18:51,084,012	G/GCACA	3′ UTR variant	c.*5574_*5577dupCACA	.	rs1491420266	.	.
4	MUC16	19: 8,888,826	T/TCCGA	Frameshift variant	c.40672_40673insTCGG	p.K13558fs	rs769228524	.	.
	MUC16	19: 8,974,159	GA/G	Frameshift variant	c.6979delT	p.S2327fs	rs759867982;rs208917	.	.
	MUC16	19: 8,974,184	T/C	Missense variant	c.6955A > G	p.I2319V	rs200019597;rs208918	.	0.0003
5	FCGBP	19: 39,886,005	T/G	Missense variant	c.8174A > C	p.N2725T	rs2916067	.	0.00005
	FCGBP	19: 39,902,423	C/T	Missense variant	c.4405G > A	p.G1469R	rs143680639	.	0.0738
6	SLC7A4	22: 21,029,052	C/T	3′ UTR variant	c.*3G > A	.	rs140809496	0.0023	.
	SLC7A4	22: 21,031,031	G/T	Missense variant	c.782C > A	p.A261D	.	.	.