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

Table 5 STK11/LKB1 mutation-related databases and pathogenicity analysis

No.	cDNA/protein	Disease database			Pathogenic judgment
		HGMD	ClinVar	OMIM
2	p.N119Kfs	/	(1/1) pathogenic	/	Pathogenic
4	c.921-1G>A	√	/	PJS	Pathogenic
5	p.L45Afs	/	/	/	Pathogenic
6	p.L290P	√	(1/1) pathogenic	PJS	Clinical significance unknown
7	p.Q220X	/	(3/3) pathogenic	PJS	Pathogenic
8	p.L183Rfs	/	/	PJS	Pathogenic
9	c.921-1G>C	√	(2/2) pathogenic	PJS	Pathogenic
10	p.F157Lfs	√	/	PJS	Likely pathogenic
12	p.Y60X	√	√	PJS	Pathogenic
13	p.L290H	/	/	PJS	Clinical significance unknown
14	c.598-2A>G	/	(1/1) pathogenic	PJS	Likely pathogenic
15	p.D194N	√	(4/6) likely pathogenic; (2/6) pathogenic	PJS	Likely pathogenic
16	p.R297K	√	(1/2) pathogenic; (1/2) unknown	PJS	Likely pathogenic
17	p.S193Rfs	/	/	PJS	Likely pathogenic
18	c.863-2A>G	/	(1/1) pathogenic	PJS	Likely pathogenic
19	c.290+1G>T	Pathogenic	/	PJS	Likely pathogenic
20	p.Y60X	Pathogenic	(2/2) pathogenic	PJS	Pathogenic
21	p.L282Afs	Pathogenic	(1/1) pathogenic	PJS	Pathogenic
23	p.V77Rfs	/	/	PJS	Likely pathogenic
24	p.Q137X	Pathogenic	(1/1) pathogenic	PJS	Pathogenic

(4/6) likely pathogenic: A total of six institutions have judged this mutation, four of which are judged as probably pathogenic, the same below. PJS: Peutz-Jeghers syndrome.