Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome

Table 3 Characteristics of STK11/LKB1 gene mutations

No.	Mutation type	dbSNP RS	Mutation site	Amino acid change	Exon	Variant type
2	Frameshift	rs372511774	c.357delC	p.N119Kfs	2|10	SNV
4	Splice-site variant	rs398123406	c.921-1G>A	/	8|10	SNP
5	Frameshift	rs1060499961	c.131dupA	p.L45Afs	1|10	INS
6	Missense	/	c.869T>C	p.L290P	7|10	SNP
7	Nonsense	/	c.658C>T	p.Q220X	5|10	SNP
8	Frameshift	/	c.548del	p.L183Rfs	4|10	DEL
9	Splice-site variant	rs398123406	c.921-1G>C	/	8|10	SNP
10	Frameshift	/	c.471_472del	p.F157Lfs	4|10	DEL
12	Frameshift	/	c.180del	p.Y60X	1|10	DEL
13	Missense	/	c.869T>A	p.L290H	7|10	SNP
14	Splice-site variant	/	c.598-2A>G	/	5|10	SNP
15	Missense	rs121913315	c.580G>A	p.D194N	4|10	SNP
16	Missense	rs730881978	c.890G>A	p.R297K	7|10	SNP
17	Frameshift	/	c.577_578del	p.S193Rfs	4|10	DEL
18	Splice-site variant	/	c.863-2A>G	/	7|10	SNP
19	Splice-site variant	rs1555735080	c.290+1G>T	/	1|10	SNP
20	Nonsense	/	c.179dup	p.Y60X	1|10	INS
21	Frameshift	rs587782584	c.842dup	p.L282Afs	6|10	INS
23	Frameshift	rs786203886	c.228dup	p.V77Rfs	1|10	INS
24	Nonsense	rs730881970	c.409C>T	p.Q137X	3|10	SNP

DEL; Deletion; INS: Insertion; SNP: Single nucleotide polymorphism; SNV: Single nucleotide variation.