Research Article

Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder

Table 2

List of final candidate variants.

Genomic coordinatesGenotypeAA changeGeneMAFFunctional prediction
2.III-22.III-32.II-22.I-21 kG (ASN)ThaiSIFTPolyphen2 HumVarMutationTaster

Chr2: 88876094C/TC/TC/CC/Cp.Glu672LysEIF2AK30.020.0067ToleratedBenignDisease causing
Chr12: 95531341C/TC/TC/CC/Cp.Cys984TyrFGD600ToleratedProbably damagingDisease causing
Chr14: 21861835C/TC/TT/TT/Tp.Asp2040GlyCHD80.020.0067ToleratedBenignDisease causing

Genotypes in this table are FWD genotype while genotypes in HGVS are REV genotype.