Mutations of BTK and PLCG2 genes
| Subject . | Gene . | Exon . | AA change . | WT codon . | MT codon* . | Previously reported . | VAF, %† . |
|---|---|---|---|---|---|---|---|
| PD1‡ | Not tested | — | — | — | — | — | — |
| PD2‡ | Not tested | — | — | — | — | — | — |
| PD3 | BTK | 15 | C481S | TGC | TCC | Yes | § |
| PLCG2 | 20 | 6NT deletion | — | — | No | § | |
| PD4‡ | None detected | — | — | — | — | — | — |
| PD5 | None detected | — | — | — | — | — | — |
| PD6‡ | PLCG2 | 19 | R665W | CGG | TGG | Yes | 0.11 |
| PD7 | PLCG2 | 19 | R665W | CGG | TGG | Yes | ND |
| PLCG2 | 19 | P664S | CCC | TCC | No | ND | |
| PD8‡ | BTK | 15 | C481S | TGC | TCC | Yes | 78.2 |
| PLCG2 | 19 | R665W | CGG | TGG | Yes | 0.26 | |
| PLCG2 | 20 | S707Y | TCC | TAC | Yes | 0.17 | |
| PLCG2 | 24 | L845F | TTA | TTT | Yes | 4.7 | |
| PD9‡ | BTK | 15 | C481S | TGC | TCC | Yes | 8.8 |
| BTK | 15 | C481S | TGC | AGC | Yes | 7.2 | |
| BTK | 15 | C481R | TGC | CGC | Yes | 15.8 | |
| PLCG2 | 19 | R665W | CGG | TGG | Yes | 7.3 | |
| PLCG2 | 24 | L845F | TTA | TTT | Yes | 18.3 | |
| PD10 | BTK | 15 | C481S | TGC | TCC | Yes | 1.6 |
| PLCG2 | 19 | R665W | CGG | TGG | Yes | 0.1 | |
| PD11‡ | BTK | 15 | C481S | TGC | TCC | Yes | 57.3 |
| PD12 | None detected | — | — | — | — | — | — |
| PD13‡ | BTK | 15 | C481S | TGC | TCC | Yes | 32.6 |
| PLCG2 | 20 | 6NT deletion | — | — | No | ND | |
| PD14 | None detected | — | — | — | — | — | — |
| PD15‡ | BTK | 15 | C481S | TGC | TCC | Yes | 2.2 |
| Subject . | Gene . | Exon . | AA change . | WT codon . | MT codon* . | Previously reported . | VAF, %† . |
|---|---|---|---|---|---|---|---|
| PD1‡ | Not tested | — | — | — | — | — | — |
| PD2‡ | Not tested | — | — | — | — | — | — |
| PD3 | BTK | 15 | C481S | TGC | TCC | Yes | § |
| PLCG2 | 20 | 6NT deletion | — | — | No | § | |
| PD4‡ | None detected | — | — | — | — | — | — |
| PD5 | None detected | — | — | — | — | — | — |
| PD6‡ | PLCG2 | 19 | R665W | CGG | TGG | Yes | 0.11 |
| PD7 | PLCG2 | 19 | R665W | CGG | TGG | Yes | ND |
| PLCG2 | 19 | P664S | CCC | TCC | No | ND | |
| PD8‡ | BTK | 15 | C481S | TGC | TCC | Yes | 78.2 |
| PLCG2 | 19 | R665W | CGG | TGG | Yes | 0.26 | |
| PLCG2 | 20 | S707Y | TCC | TAC | Yes | 0.17 | |
| PLCG2 | 24 | L845F | TTA | TTT | Yes | 4.7 | |
| PD9‡ | BTK | 15 | C481S | TGC | TCC | Yes | 8.8 |
| BTK | 15 | C481S | TGC | AGC | Yes | 7.2 | |
| BTK | 15 | C481R | TGC | CGC | Yes | 15.8 | |
| PLCG2 | 19 | R665W | CGG | TGG | Yes | 7.3 | |
| PLCG2 | 24 | L845F | TTA | TTT | Yes | 18.3 | |
| PD10 | BTK | 15 | C481S | TGC | TCC | Yes | 1.6 |
| PLCG2 | 19 | R665W | CGG | TGG | Yes | 0.1 | |
| PD11‡ | BTK | 15 | C481S | TGC | TCC | Yes | 57.3 |
| PD12 | None detected | — | — | — | — | — | — |
| PD13‡ | BTK | 15 | C481S | TGC | TCC | Yes | 32.6 |
| PLCG2 | 20 | 6NT deletion | — | — | No | ND | |
| PD14 | None detected | — | — | — | — | — | — |
| PD15‡ | BTK | 15 | C481S | TGC | TCC | Yes | 2.2 |
—, not applicable; AA, amino acid; MT, mutant; ND, not detected; NT, nucleotide; WT, wild type.
Mutations were detected by Sanger sequencing or NGS as described in “Patients, materials, and methods.”
Estimated VAFs were determined by ddPCR. Specificities for VAFs <1% were tested in normal donor samples and were: 83.3% (PD6, PD10) for PLCG2 R665W and 100% (PD8) for PLCG2 S707Y.
Male patients with 1 X-chromosomal BTK allele.
Test not performed due to insufficient samples or probes.