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

Table 3 Classification of the detected gene mutations: Classification of patients based on pathogenicity of mutations in genes found

Classification	Identified gene mutations	Transcript number	Zigosity	Frequency of gene mutations (%)	Detection method
	NTHL1[25]	NM 002528.7	Heterozygous	2 (7.69)	WES
Pathogenic	APC	NM 000038.7	Heterozygous	19 (73.08)	WES
	MSH3[44,45]	NM 002439.5	Heterozygous	3 (11.54)	WES
Likely pathogenic	CHEK2[39]	NM 007194.4	Heterozygous	6 (23.08)	WES
	POLE[24,25]	NM 006231.4	Heterozygous	5 (19.23)	WES
	FLCN[47]	NM 144997.7	Heterozygous	1 (3.85)	WES
	PIEZIO1[29,30,44,46]	NM 001142864.4	Heterozygous	4 (15.38)	WES
	ATM[46,48,49]	NM 000051.4	Heterozygous	1 (3.85)	WES
VUS	PMS2[55]	NM 000535.7	Heterozygous	1 (3.85)	WES
	PIK3CA[50,51]	NM 006218.4	Heterozygous	1 (3.85)	WES
	RNF43[52,53]	NM 017763.6	Heterozygous	1 (3.85)	WES
	PDGRA[54]	NM 006206.6	Heterozygous	1 (3.85)	WES
	c.3949G>C.pGlu1317Gln	NM 000038.6	Heterozygous	1 (3.85)	WES

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