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

Table 2 Mutation status of LKB1/STK11 gene

Case No.	Allele	Mutation type	Exon/intron	Amino acid change	Base change	New mutation
1	Heterozygosis	Missense	4	p.L167R	c.500T>G	No
2	Heterozygosis	Nonsense	1	p.K84*	c.250A>T	No
3	Heterozygosis	Frameshift deletion	5	p.A241Vfs*46	c.722delC	Yes
4	Homozygous	Frameshift insertion	3	p.Q152Pfs*11	c.454_455insC	Yes
5	Heterozygosis	Frameshift insertion	1	p.Y49Afs*4	c.144_145insGCAAG	Yes
6	Heterozygosis	Missense	5	p.S240W	c.719C>G	No
7	Heterozygosis	Frameshift deletion	1	p.K82Rfs*14	c.243delG	Yes
8	Heterozygosis	Cleavage site	5-61	/	c.734+1G>A	Yes
10	Heterozygosis	Cleavage site	3-41	/	c.464+1G>T	Yes
13	Homozygous	Frameshift deletion	3	p.E145Gfs*10	c.426_448delCGTGCCGGAGAAGCGTTTCCCAG	No
14	Heterozygosis	Nonsense	1	p.K84*	c.250A>T	No
16	Heterozygosis	Frameshift insertion	1	p.Y49Afs*4	c.144_145insGCAAG	No
17	Heterozygosis	Cleavage site	4-51	/	c.598-1G>A	Yes
18	Heterozygosis	Nonsense	1	p.Y49*	c.147C>G	No
19	Heterozygosis	Frameshift deletion	2	p.K122Afs*40	c.363_364delGA	Yes
20	Homozygosis	Cleavage site	3-41	/	c.464+1G>A	No

¹Mutation is located in the intron.