Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients

Table 2 21 new mutant sites in other genes

Sample	Gene	Description	HGVSc	Mutation type
1	AKT1	p.E135G	c.404A>G	Missense variant
2	APC	p.A41T	c.121G>A	Missense variant
3	APC	p.C417G	c.1249T>G	Missense variant
4	ATM	p.L27501	c.8249T>G	Stop gained
5	ATM	p.A84S	c.250G>T	Missense variant
6	ATM	p.I1332M	c.3996T>G	Missense variant
7	BLM	p.E1035G	c.3104A>G	Missense variant
8	BRCA2	p.D635E	c.1905T>A	Missense variant
9	BRCA2	p.T1346N	c.4037C>A	Missense variant
10	CHEK2	c.908+16T>G	c.908+16T>G	Intron variants
11	CDH1	c.47G>A1	c.47G>A1	3 prime UTR variant
12	CDH1	p.S145Y	c.434C>A	Missense variant
13	CDH1	p.883Yext?1	c.2649G>C	Stop lost
14	GALNT12	c.-6G>T	c.-6G>T	Upstream genetic variant
15	KIT	p.M289I	c.867G>C	Missense variant
16	MLH1	p.T451R	c.1352C>G	Missense variant
17	PMS1	p.D405E	c.1215T>A	Missense variant
18	POLE	p.R1556G	c.4666C>G	Missense variant
19	POLD1	p.K486del	c.1456_1458del	Conservative inframe deletion
20	SDHC	p.L106V	c.316C>G	Missense variant
21	SMAD4	p.A309V	c.926C>T	Missense variant

¹Nonsense mutation leading to protein inactivation.