Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family

Table 3 Candidate variants with whole exome sequencing

Gene	Chromosome Position	Variant	1000G(%)	ESP6500si(%)	ExAC_EAS(%)	Online Prediction
Gene	Chromosome Position	Variant	1000G(%)	ESP6500si(%)	ExAC_EAS(%)	SIFT	MutationTaster	PolyPhen2	PROVEAN
TUBB8	Chr10:48809	NM_177,987:c.C161T:p.A54V	0	0.01	0.02	D	D	B	N
NCOA2	Chr8:70123918	NM_006540:c.C4259T:p.P1420L	0	0	0	D	D	D	D

B predicted to be benign, D predicted to be deleterious, N predicted to be neutral, ExAC_EAS Frequency of corresponding variants in the ExAC Asian population

ISSN: 1757-2215