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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