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

Table 2 Detected APC germline mutations and other mutations: Adenomatous polyposis coli and other familial adenomatous polyposis-specific gene mutations in this study

APC gene mutations	Patient ID	Transcript number	Exon	Nucleotide changes	Zygosity	Type of mutations	PhyoP100 way score	Phenotypes	Detection method
	1	NM 000038.6		1B region deletion	Heterozygous			FAP	WES
	2	NM 000038.6		1B region deletion	Heterozygous			FAP	WES
	8	NM 000038.6	5	c.505 508del:p.I169fs	Heterozygous	Frameshift		FAP	WES
	9	NM 000038.6			Heterozygous	Genomic deletion		FAP	WES
	10	NM 000038.6			Heterozygous	Genomic deletion		FAP	WES
	11	NM 000038.6			Heterozygous	Genomic deletion		aFAP	WES
	12	NM 000038.6			Heterozygous	Genomic deletion		FAP	WES
	13	NM 000038.6	16	c.3180 3184del:p.Q1062	Heterozygous	Frameshift	0	FAP	WES
	14	NM 000038.6	16	c.C2805A:p.Y935X	Heterozygous	Nonsense	1.441	aFAP	WES
	15	NM 000038.6	10	c.C1248G:p.Y416X	Heterozygous	Nonsense	5.029	FAP	WES
	16	NM 000038.6	16	c.C3340A:p.R1114X	Heterozygous	Nonsense	3.923	FAP	WES
	17	NM 000038.6	16	c.G4057T:p.E1353X	Heterozygous	Nonsense	6.23	FAP	WES
	18	NM 000038.6	14	c.C1660T:p.R554X	Heterozygous	Nonsense	0.753	FAP	WES
	22	NM 000038.6	7	C646-2A>T	Heterozygous	Splice	6.462	FAP	WES
	23	NM 000038.6	5	c.505 508del:pI169fs	Heterozygous	Frameshift	6.5e-06	FAP	WES
	24	NM 000038.6	16	c.C2805A:p.Y935X	Heterozygous	Nonsense	1.441	FAP	WES
Other gene mutation	Patient ID	Transcript number	Exon	Nucleotide changes	Zigosity	Type of mutations	PhyoP100 way score	Phenotypes	Detection method
CHEK2[39]	6	NM 007194.4	4	c.T407C:p.I157T	Heterozygous	Missense	6.65	FAP	WES
MSH3[44,45]	21	NM 002439.5	5	c.998delT:p.Y334Ifs11	Heterozygous	Frameshift	0	aFAP	WES
		NM 002439.5	20	c.G2756A:p.G919D	Heterozygous	Missense	1.000		WES

FAP: Familial adenomatous polyposis; WES: Whole-exon sequencing; aFAP: Attenuated familial adenomatous polyposis.