Table 1.

BTK, PLCG2, and BCL2 variants detected among 37 clinical samples

Gene (RefSeq transcript)	Nucleotide variant (HGVSc)	Amino acid change (HGVSp)	Total
BTK (NM_000061.2)	c.1442G>C	p.(Cys481Ser)	21
	c.1441T>A	p.(Cys481Ser)	9
	c.1583T>G	p.(Leu528Trp)	6
	c.1442G>T	p.(Cys481Phe)	4
	c.1442G>A	p.(Cys481Tyr)	3
	c.1421C>T	p.(Thr474Ile)	2
	c.1441T>C	p.(Cys481Arg)	1
	c.1442_1443delinsCT	p.(Cys481Ser)	1
PLCG2 (NM_002661.3)	c.2120C>T	p.(Ser707Phe)	2
	c.2120C>A	p.(Ser707Tyr)	1
	c.2977G>C	p.(Asp993His)	1
BCL2 (NM_000633.2)	c.302G>T	p.(Gly101Val)	12
	c.467T>A	p.(Val156Asp)	8
	c.319_330dup	p.(Arg107_Arg110dup)	7
	c.307G>T	p.(Asp103Tyr)	6
	c.309C>A	p.(Asp103Glu)	5
	c.338C>G	p.(Ala113Gly)	4
	c.308A>T	p.(Asp103Val)	2
	c.309C>G	p.(Asp103Glu)	2
	c.386G>T	p.(Arg129Leu)	2
	c.326_327insGCGCCGCTACCG	p.(Arg107_Arg110dup)	1
	c.302 303delinsTT	p.(Gly101Val)	1