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 coordinates | Genotype | AA change | Gene | MAF | Functional prediction | 2.III-2 | 2.III-3 | 2.II-2 | 2.I-2 | 1 kG (ASN) | Thai | SIFT | Polyphen2 HumVar | MutationTaster |
| Chr2: 88876094 | C/T | C/T | C/C | C/C | p.Glu672Lys | EIF2AK3 | 0.02 | 0.0067 | Tolerated | Benign | Disease causing | Chr12: 95531341 | C/T | C/T | C/C | C/C | p.Cys984Tyr | FGD6 | 0 | 0 | Tolerated | Probably damaging | Disease causing | Chr14: 21861835 | C/T | C/T | T/T | T/T | p.Asp2040Gly | CHD8 | 0.02 | 0.0067 | Tolerated | Benign | Disease causing |
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Genotypes in this table are FWD genotype while genotypes in HGVS are REV genotype. |