Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients

Table 1 De novo mutations of 13 driver genes detected in colorectal cancer

Gene	Mutation	Protein change	rs number	Number of mutations, n (%)	Minor allele frequency in cancer	Minor allele frequency in Asian	GMAF
							(global minor allele frequency%)
APC	c.465A>G	p.Lys155=		1 (0.97)	0.49%
	c.573T>C	p.Tyr191=	rs185154886	1 (0.97)	0.49%	NA	C = 0.06
	c.1005A>G	p.Leu335=	rs3797704	1 (0.97)	0.49%	G = 0%	G = 0.06
BMPR1A	c.1578A>G	p.Glu526=	rs202030576	1 (0.97)	0.49%	NA	G = 0.02
MLH1	c.462C>T	p.Asp154=	rs192938577	1 (0.97)	0.49%	NA	T = 0.02
	c.655A>G	p.Ile219Val	rs1799977	7 (6.8)	3.40%	G = 0%-37.5%	G = 12.96
	c.1151T>A	p.Val384Asp	rs63750447	4 (3.88)	1.94%	NA	A = 0.52
	c.1742C>T	p.Pro581Leu	rs63751684	1 (0.97)	0.49%	NA	T = 0.12
	c.2101C>A	p.Gln701Lys	rs63750114	1 (0.97)	0.49%	NA	A = 0.12
MSH2	c.23C>T	p.Thr8Met	rs17217716	3 (2.91)	1.46%	T = 0%-5%	T = 0.52
	c.1886A>G	p.Gln629Arg	rs61756468	3 (2.91)	1.46%	NA	G = 0.22
MSH6	c.3488A>T	p.Glu1163Val	rs63750252	2 (1.94)	0.97%	NA	T = 0.28
	c.4065_4066insTTGA	p.Lys1328Aspfs	rs55740729	1 (0.97)	0.49%	NA	TTGA = 0.8
MUTYH	c.1422G>C	p.Thr474=	rs74318065	1 (0.97)	0.49%	NA	G = 1.04
	c.1440C>T	p.Thr480=	rs150269172	3 (2.91)	1.46%	NA	A = 0.4
PMS2	c.1532C>T	p.Thr511Met	rs74902811	4 (3.88)	1.94%	NA	A = 3.69