Table 2 of
Nguyen, Mol Vis 2021; 27:555-563. Table 2 of
Nguyen, Mol Vis 2021; 27:555-563.
Table 2. Summary of genetic variants detected by WES.
| WES | Parental genotype | In silico prediction | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Samples | Gene (transcript ID) | cDNA change | AA change | Variant types | Zygosity | Presence in the GnomAD/ VN WES DB | Condition (inheritance) | Father | Mother | SIFT | Polyphen2 | MutationTaster |
| AN1 | FOXC1 (NM_001453) | c.274C>T | p.(Gln92*) | Nonsense | Het | No/ No | ASD 3 (AD) | CC | CC | - | - | - |
| AN9 | PITX2 (NM_153426) | c.329C>G | p.(Pro110Arg) | Missense | Het | No/ No | ASD 4 (AD) | CC | CG | D | D | D |
| AN11 | CPAMD8 (NM_015692) | c.2405G>A | p.(Cys802Tyr) | Missense | Het | No/ No | ASD 8 (AR) | NA | NA | T | D | D |
| AN12 | CPAMD8 (NM_015692) | c.2405G>A | p.(Cys802Tyr) | Missense | Het | No/ No | ASD 8 (AR) | NA | NA | T | D | D |