Table 2.

Summary of the new DPY19L2 variants found in the investigated globozoospermic patients

Patients	mRNA change	Protein change	Variant type	Max allele frequency	GERP (prediction of conservation)	Zygosity
P3	c.2126+5G>A	-	Splice region variant	0	3.78	Heterozygous
P6	c.1720C>T	p.Arg574Ter	Nonsense	0	2.51	Homozygous
P8	c.1182_1184delATC	p.Leu394_Ser395delinsPhe	Inframe deletion	<0.0001	1.37	Compound heterozygous
	c.368A>G	p.His123Arg	Missense	0	2.5
P9	c.1182_1186delATCTT	p.Leu394PhefsTer19	Frame shift	0	2.71	Compound heterozygous
	c.1553_1554delAT	p.Tyr518CysfsTer14	Frame shift	<0.0001	3.18

The max allele frequency of the variants was from gnomAD and ExAC databases. Polyphen scores were only suitable to assess the pathogenicity of missense mutations, and the Polyphen score of c.368A>G is 0.998, which means likely pathogenic. GERP: Genomic Evolutionary Rate Profiling