Table 2.

Whole exome sequencing top 3 candidate variants.

Variant #	Chr	Gene, NCBI #	DNA change	Protein change	SNV type	Geno type	Knockout mouse model	ClinVar	Testis gene expression	PhyloP	SIFT	PolyPhen2
1	X	ADGRG2 NM_001079858	c.2440C > T	p.Arg814*	Nonsense	Hemizygous	Male infertility, luminal fluid reabsorption defect	5 pathogenic CBAVD mutations	Epididymis, not test.specific	C	NA	NA
2	X	P2RY4 NM_002565	c.59G > A	p.Ser20Asn	Missense	Hemizygous	Lack of chloride secretion in GI tract, fertile	Not reported	Not testis-specific	N	T	B
3	12	CLEC6A NM_001007033	c.23A > C	p.Gln8Pro	Missense	Homozygous	Low cytokine production & immune response to fungi	Not reported	Not testis-specific	N	T	D

The variants were identified as the most plausible for male infertility. Selection was based on inheritance pattern, genotype segregation with OA, gene and variant priority. Mouse models were retrieved from MGI database. Testis gene expression is based on consistent results from 4 databases: BioGPS, GTEx, AceView, and UniGene. C: Conserved, N: Not conserved, T: tolerated, B: benign, NA: not available.