Table 2.

Genetic alterations of the four PTFL patients.

Case	Mutated genes	Exons	Nucleobase changes	Amino acid changes	Mutation frequency (%)	Genomic variant categoriesa
1	PCLO	exon5	c.8778_8780dupTGA	p. D2926_E2927insD	89.90	I
	CD79B	exon5	c.587A>G	p. Y196C	16.70	I
	MYD88	exon4	c.728G>A	p. S243N	13.10	I
	GNA13	IVS1	c.283+2T>C	—	3.20	I
	KMT2D	exon31	c.7478_7479delinsT	p. G2493Vfs*50	66.04	I
2	TCF3	exon15	c.1291_1293delinsAGT	p. G431S	46.30	III
	MAP2K1	exon2	c.157T>C	p. F53l	12.90	II
	MAP2K1	exon2	c.199G>A	p. D67N	1.80	II
	IRF8	exon2	c.67T>C	p. Y23H	2.50	III
3	FOXO1	exon1	c.285_293delGGCGGCGGC	p. A100_A102del	39.60	I
	IRF8	exon3	c.197A>G	p. K66R	2.50	I
4	MAP2K1	exon2	c.171G>T	p. Lys57Asn	10.48	II
	POLE	exon43	c.5818T>G	p. Ser1910Ale	48.82	III
	INPP5D	exon27	c.3430G>T	p. Gly1144Cys	48.01	III
	FAT4	exon1	c.4189A>G	p. Arg1397Gly	9.12	III

^a AMP/ASCO/CAP guidelines (4): I, variants with strong clinical significance (level A or B evidence); II, variants with potential clinical significance (level C or D evidence); III, variants with unknown clinical significance; IV, variants that are benign or likely benign.