Patient | WES performed? | WES Result- Gene(s) & Variant(s) | rsID | Transcript ID | Zygosity | Global minor allele frequency | Clinical significance (ClinVar) |
---|---|---|---|---|---|---|---|
PID01 | N/A | IFNGR1 (c.818del4) | rs587776856 | NM_000416.3 | Heterozygous | Unknown | Pathogenic |
PID02 | Yes | IFNGR1 (c.864C > G p.Ile288Met) | rs121913184 | NM_000416.3 | Heterozygous | 0.00003594 | Not provided |
NOD2 (c.374C > T p.Pro125Leu) | rs149390911 | NM_001370466.1 | Heterozygous | 0.0002979 | Likely benign | ||
PID03 | Yes | IKZF1 (c.1009G > A p.Gly337Ser) | rs148169768 | NM_006060.6 | Homozygous | 0.000717 | Not reported in ClinVar |
IFNGR1 (c.698A > C p.Gly233Ala) | rs767099047 | NM_000416.3 | Heterozygous | 0.000003978 | Not reported in ClinVar | ||
PID04 | Yes | No result | N/A | N/A | N/A | N/A | N/A |
PID05 | Yes | No result | N/A | N/A | N/A | N/A | N/A |
PID06 | Yes | IL12B (c.320A > G p.Lys107Arg) | None | NM_002187.3 | Heterozygous | Unknown | Not reported in ClinVar |
NFKB2 (c.2042C > T p.Pro681Leu) | rs534798782 | NM_001322934.2 | Heterozygous | 0.00003211 | Not reported in ClinVar | ||
PID07 | Yes | IL12B (c.863G > C p.Arg288Thr) | None | NM_002187.3 | Homozygous | 0.00111 | Not reported in ClinVar |
PID08 | Yes | IFNGR2 (c.708A > T p.Glu236Asp) | rs121913212 | NM_005534.4 | Homozygous | 0.0007108 | Variant of unknown significance |
PID09 | Yes | IKBKB (c.2257G > A p.Ala753Thr) | rs200977622 | NM_001556.3 | Homozygous | 0.00001193 | Variant of unknown significance |
NFKB2 (c.2042C > T p.Pro681Leu) | rs534798782 | NM_001322934.2 | Heterozygous | 0.00003211 | Not reported in ClinVar | ||
PID10 | Yes | IRAK1 (c.1939C > T p.Leu647Pro) | rs113047476 | NM_001569.4 | Hemizygous | 0.00001974 | Not reported in ClinVar |
PID11 | Yes | IL12RB2 (c.2071A > G p. Arg691TGly & c. 1259G > A p.Gly420Glu) | rs748575002 & rs765425600 | NM_001374259.2 | Both Heterozygous | 0.000043282 & 0.000003979 | Neither reported in ClinVar |
PID12 | Yes | No result | N/A | N/A | N/A | N/A | N/A |
PID13 | Yes | No result | N/A | N/A | N/A | N/A | N/A |
PID14 | No | No result | N/A | N/A | N/A | N/A | N/A |
PID15 | No | N/A | N/A | N/A | N/A | N/A | N/A |
PID16 | No | N/A | N/A | N/A | N/A | N/A | N/A |