Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome

Table 4 Mutation of other 13 genes except LKB1/STK11 gene

Case No.	Gene	MMR	Type of mutation	Amino acid change	Base change	New mutation
3	MUTYH	No	Missense	p.Ala373Val	c.1118C>T	No
	MLH1	Yes	Missense	p.Val384Asp	c.1151T>A	No
	PMS2	Yes	Missense	p.Thr511Met	c.1532C>T	No
4	MSH6	Yes	Missense	p.Ala1230Gly	c.3689C>G	Yes
	MLH1	Yes	Missense	p.Val384Asp	c.1151T>A	No
	PMS2	Yes	Missense	p.Thr511Met	c.1532C>T	No
7	MLH3	Yes	Non-synonymous SNV	p.Asp1081His	c.3241G>C	No
	AXIN2	No	Non-synonymous SNV	p.Ser738Phe	c.2213C>T	No
9	MSH6	Yes	Missense	p.Glu1163Val	c.3488A>T	No
	APC	No	Missense	p.Met2221Thr	c.6662T>C	No
10	MSH2	Yes	Missense	p.Ile169Val	c.505A>G	No
	MSH6	Yes	Intron insertion	/	c.4001+13C>CTTAC	Yes
	APC	No	Missense	p.Ala2778Ser	c.8332G>T	No
14	MSH2	Yes	Missense	p.Val89Ala	c.266T>C	No
	MSH2	Yes	Cleavage site	/	c.792+1G>A	Yes
	PMS1	Yes	Nonsense	p.Gln16Ter	c.46C>T	Yes
	PMS1	Yes	Missense	p.Val308Ile	c.922G>A	Yes
15	PTEN	No	Missense in 5 'untranslated region (UTR)	p.Gln171Glu	c.511C>G	No
19	MSH2	Yes	Missense	p.Leu390Phe	c.1168C>T	No
20	MLH1	Yes	Missense	p.Arg217Cys	c.649C>T	No