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Candidate variants with whole exome sequencing
| Gene | Chromosome Position | Variant | 1000G(%) | ESP6500si(%) | ExAC_EAS(%) | Online Prediction | |||
|---|---|---|---|---|---|---|---|---|---|
| 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
