Skip to main content

Table 3 Candidate variants with whole exome sequencing

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

GeneChromosome PositionVariant1000G(%)ESP6500si(%)ExAC_EAS(%)Online Prediction
SIFTMutationTasterPolyPhen2PROVEAN
TUBB8Chr10:48809NM_177,987:c.C161T:p.A54V00.010.02DDBN
NCOA2Chr8:70123918NM_006540:c.C4259T:p.P1420L000DDDD
  1. 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