Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases

Table 4 Identification of germline mutations in known colorectal cancer predisposing genes

Sample ID	Gene name	Gene ID	Genomic change	cDNA change	Protein change	Pathogenicity
43-1A	MLH1	NM_000249	g.chr3:37053590G>A	c.677G>A1	p.Arg226Glna	Yes[38,44]
106-2A	MLH1	NM_000249	chr3:g.37048555G>T	c.453+1G>T	SSM	Yes[42]
116-1A	MLH1	NM_000249	g.chr3:37042445G>A	c.208-1G>A	SSM	Yes[43]
180-1	MUTYH	NM_001128425	g.chr1:45797972G>A	c.799C>T	p.Gln267*	Yes[39]
180-1	MUTYH	NM_001128425	g.chr1:45797914C>T	c.857G>A	p.Gly286Glu	Yes[40]
49-4A	MLH1	NM_000249	g.chr3:37067252_37067253insT	c.1163_1164insT	p.Arg389Profs*6	NR
49-5A	MLH1	NM_000249	g.chr3:37067252_37067253insT	c.1163_1164insT	p.Arg389Profs*6	NR
49-4A	MSH6	NM_000179	g.chr2:48027422C>G	c.2300C>G	p.Thr767Ser	NR
50-11A	MSH2	NM_000251	g.chr2:47641406A>T	c.793-2A>T	SSM	NR

¹This substitution results in a complete loss of exon 8 of MLH1 by RNA analysis[38]. NR: Not reported; SSM: Splice site mutation.