Table 1.
Mutations detected by T-next generation sequencing (NGS) primary immunodeficiency disease panel.
| Sample | T cell receptor excision circle copies/μL (initial/repeat) | Gene | Mutation | Protein effect | Zygosity | Mutation type | Detected by T-NGS | Confirmed by Sanger |
|---|---|---|---|---|---|---|---|---|
| SGP2017-00440 | 6/0 | AK2 | NM_001625:exon6:c.524G > C | p.R175P | Homozygous | SNV (29) | YES | YES |
| SGP2017-00442 | 3/3 | JAK3 | NM_000215:exon10:c.1275T > A | p.Y425X | Compound heterozygous | SNVa (novel) | YES | YES |
| NM_000215:exon3:c.308G > A | p.R103H | (rare, 8.129e-6; deleterious) | YES | YES | ||||
| SGP2017-00425 | 34/36 | MTHFD1 | NM_005956:exon24:c.2404G > A | p.V802I | Homozygous | SNV (rare, 7.326e-5; deleterious) | YES | YES |
SNV, single nucleotide variant.
aVery rare deleterious SNVs (http://gnomad.broadinstitute.org/) which have never been reported as homozygous.