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Table 4 Details of the 8 patients in MSS group identified to have MMR gene germline mutation

From: Detection of mismatch repair gene germline mutation carrier among Chinese population with colorectal cancer

Patient No. MSI state Mutant gene Exon Mutation site Change in amino acid sequence
2 L MSH2 12 c.1886 A > G p.629 Gln > Arg
28 H MSH2 7 c.1225 C > A p.409 Gln > Lys
93 L MSH6 5 c.3200 C > A p.1067 Pro > His
98 H MSH2 12 c.1886 A > G p.629 Gln > Arg
115 H MSH6 2 c.440 T > A p.149 Leu > His
119 H MSH2 7 c.1145 G > A p.382 Arg > His
132 H MSH6 5 c.3185 C > T p.1062 Pro > Leu
151 H MSH2 7 c.1168 C > T p.390 Phe > Leu