Genetic differences in familial adenomatous polyposis syndrome in a Hungarian population: A prospective single center study

Table 5 Gene variants of unknown significance

Patient ID	VUS genes	Transcript number	Exon	Nucleotide changes	Zigosity	PhyoP100 way score	Detection method
1	PIEZO1	NM 001142864	19	c.G2546A:p.R849H	Heterozygous	1.591	WES
	PIEZO1	NM 001142864	16	c.T2132A:p.M711K	Heterozygous	3.907	WES
2	PIEZO1	NM 001142864	19	c.G2546A:p.R849H	Heterozygous	1.591	WES
	PIEZO1	NM 001142864	16	c.T2132A:p.M711K	Heterozygous	3.907	WES
3	POLE	NM 006231	13	c.C1306T:p.P436S	Heterozygous	9.953	WES
4	POLE	NM 006231	13	c.C1306T:p.P436S	Heterozygous	9.953	WES
	PIK3CA	NM 006218	10	c.A1544G:p.N515S	Heterozygous	4.744	WES
5	PDGFRA	NM 006206.6	22	c.A2897G:p.H966R	Heterozygous	6.868	WES
7	POLE	NM 006231	13	c.C1306T:p.P436S	Heterozygous	9.953	WES
8	FLCN	NM 144997.7	4	c.C115A:p.P39T	Heterozygous	1.645	WES
	POLE	NM 006231	2	c.C154T:p.R52W	Heterozygous	1.914	WES
13	ATM	NM 000051	22	c.G3257A:p.R1086H	Heterozygous	6.258	WES
	MSH3	NM 002439	14	c.C2041T:p.P681S	Heterozygous	5.178	WES
16	PIEZO1	NM 001142864	18	c.G2423A:p.R808Q	Heterozygous	7.747	WES
	PIEZO1	NM 001142864	18	c.G2344A:p.G782S	Heterozygous	3.99	WES
18	PMS2	NM 000535.7	6	c.G682A:p.G228S	Heterozygous	5.643	WES
21	MSH3	NM 002439	20	c.G2756A:p.G919D	Heterozygous	1.000	WES
23	POLE	NM 006231	2	c.C154T:p.R52W	Heterozygous	1.914	WES
	PIEZO1	NM 001142864	31	c.T4252C:p.Y1418H	Heterozygous	4.794	WES
	RNF43	NM 017763	3	c.G319A:p.V107I	Heterozygous	6.609	WES

VUS: Variants of unknown significance; WES: Whole-exon sequencing.