Table 3.

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

—, 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.