Research Article
Whole Exome Sequence Analysis for Inborn Errors of IL-12/IFN-γ Axis in Patient with Recurrent Typhoid Fever
Table 2
Putatively causative IL-12/IFN-γ axis genes variants.
| | S.no. | Gene | Chrom | Position | REF | ALT | SIFT_ pred | Polyphen2 _HDIV_ pred | Polyphen2_HVAR_ pred | LRT_ pred | MutationTaster_ pred | MutationAssessor_ pred | FATHMM_ pred |
| | 1 | Interferon gamma receptor 2 (interferon gamma transducer 1) | chr21 | 34787312 | A | G | T | B | B | N | P | N | T | | 2a | Interleukin 23 receptor | chr1 | 67633812 | G | T | T | B | B | N | P | M | D | | 2b | Interleukin 23 receptor | chr1 | 67685387 | T | C | T | B | B | N | P | N | T | | 3 | ISG15 ubiquitin-like modifier | chr1 | 949608 | G | A | T | B | B | N | P | L | T | | 4a | Zinc finger, NFX1-type containing 1 | chr20 | 47865509 | G | A | T | B | B | N | P | N | D | | 4b | Zinc finger, NFX1-type containing 1 | chr20 | 47872377 | C | G | T | B | B | N | P | L | T | | 5 | Nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor-like 1 | chr6 | 31525912 | C | T | T | B | B | N | P | — | T | | 6 | Tyrosine kinase 2 | chr19 | 10475649 | C | T | T | B | B | N | N | N | T | | 7 | Interleukin 4 receptor | chr16 | 27374400 | A | G | T | B | B | N | P | N | T | | 8 | Interleukin 17 receptor A | Chr22 | 17589209 | C | T | T | B | B | N | P | L | T |
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B: benign, D: deleterious, L: lethal, N: neutral, M: medium T: tolerant, P: pathogenic/possible damaging.
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