Research Article
Whole Exome Sequence Analysis for Inborn Errors of IL-12/IFN-γ Axis in Patient with Recurrent Typhoid Fever
Table 3
Mono allelic and biallelic mutation along found in variants.
| Gene | Refseq transcript | Exon | Coding change | Protein change | CADD_raw | CADD_Phred | ExAC_ALL | ExAC_EAS | gnomAD_exome_EAS |
| Interleukin 23 receptor | NM_144701 | exon2 | c.G9T | p.Q3H | 2.109 | 16.92 | 0.5285 | 0.6498 | 0.6438 | NM_144701 | exon7 | c.T929C | p.L310P | -0.55 | 0.165 | 0.8776 | 0.8776 | 0.9856 | Zinc finger, NFX1-type containing 1 | NM_021035 | exon14 | c.G3777A | p.M1259I | 0.1752 | 0.0439 | -1.932 | 0.001 | 0.0418 |
|
|