Table 3. Female infertility-associated genetic variants affecting cell cycle regulation.

Variants are listed in order of publication year. Frequencies of small (<1kb) genetic variants were identified in gnomAD v2.1.1 and ExAc v1.0 via ANNOVAR.

Gene	DNA Variant	Protein Variant	Clinical Phenotype	Reference	Frequency
					gnomAD exome1	ExAc2	gnomAD genome3
WEE2	NM_001105558.1:c.700G>C	p.D234H	Fertilization failure	Sang et al. (2018)	NF
WEE2	NM_001105558.1:c.1473dup	p.T493Nfs*39	Fertilization failure	Sang et al. (2018)	NF
WEE2	NM_001105558.1:c.220_223del	p.E75Vfs*6	Fertilization failure	Sang et al. (2018)	NF
WEE2	NM_001105558.1:c.1006_1007insTA	p.H337Yfs*24	Fertilization failure	Sang et al. (2018)	NF
WEE2	NC_000007.13:c.598C>T	p.R200*	Fertilization failure	Zhou et al. (2019)†	1.61E-0	2.50E-05	9.56E-05
	NC_000007.13:c.1319G>C	p.W440S			NF
WEE2	NM_001105558:c.293_294ins CTGAGACACCAGCCCAACC	p.P98P fsX2	Fertilization failure	Zhao et al. (2019)†	NF
WEE2	NM_001105558:c.1576T>G	p.Y526D	Fertilization failure	Zhao et al. (2019)†	NF
WEE2	NM_001105558:c.991C>A	p.H331N	Fertilization failure	Zhao et al. (2019)†	NF
	NM_001105558:c.1304_1307del	p.T435M fsX31			NF
WEE2	NM_001105558:c.341_342del	p.K114N fsX20	Fertilization failure	Zhao et al. (2019)†	NF
	NM_001105558:c.864G>C	p.Q288H			NF
WEE2	NM_001105558:c.1A>G	p.0?	Fertilization failure	Zhao et al. (2019)†	NF
	NM_001105558:c.1261G>A	p.G421R			NF
WEE2	NM_001105558.1:c.585G>C	p.K195N	Fertilization failure	Dai et al. (2019)	NF
WEE2	NM_001105558.1:c.1228C>T	p.R410W	Blastocyst arrest after fertilization or fertilization failure	Dai et al. (2019)	2.01E-05
WEE2	NM_001105558.1:c.1006_1007dup	p.H337Yfs*24	Fertilization failure	Dai et al. (2019)	NF
WEE2	NM_001105558.1:c.1006_1007dup	p.H337Yfs*24	Fertilization failure	Dai et al. (2019)	NF
	NM_001105558.1:c.1136–2A>G	p.G379Efs*6/ p.D380Lfs*39			NF
WEE2	NM_001105558:c.619C>T	p.R207C	Fertilization failure	Yang et al. (2019)	NF
WEE2	NC_000007.13:c.1228C>T	p.R410W	Fertilization failure	Zhang et al. (2019)†	2.01E-05
WEE2	NC_000007.13:c.725G>C	p.R242P	Fertilization failure	Zhang et al. (2019)†	NF
	NC_000007.13:c.997T>C	p.S333P			NF
WEE2	NC_000007.13:c.1221G>A	p.D408Vfs*	Fertilization failure	Zhang et al. (2019)†	NF
	NC_000007.13:c.220_223del	p.E75Vfs*6			NF
WEE2	NC_000007.13:c.1006_1007insTA	p.H337Yfs*24	Fertilization failure	Zhang et al. (2019)†	NF
	NC_000007.13:c.1286_1288del	p.G429del			NF
WEE2	NC_000007.13:c.220_223del	p.E75Vfs*6	Fertilization failure	Zhang et al. (2019)†	NF
	NC_000007.13:c.598C>T	p.R200*			1.61E-05	9.50E-05	9.56E-05
WEE2	NC_000007.13:c.1184G>A	p.G395E	Fertilization failure	Zhang et al. (2019)†	4.01E-06

^†Reference sequence or reference sequence version number not reported

¹Frequency in gnomAD v.2.1.1

²Frequency in ExAc v1.0

³Frequency in gnomAD v2.1.1 genomes. exomes.