Table 2.

Mutations detected in 77 gastric tumours by Ion AmpliSeq Cancer Hotspot Panel v2.

Gene	Genetic variant	rsID	Variant position according to hg19	Pathogenicity (ClinVar)	MAF (gnomAD)	Number of cases
PIK3CA	NM_006218.3: c.1633G > A: p.E545K	rs104886003	chr3:178936091	Pathogenic	A = 0.000004	1
PIK3CA	NM_006218.3: c.3140 A > G: p.H1047R	rs121913279	chr3:178952085	Pathogenic	G = 0.000004	1
EGFR	NM_005228.3: c.874 G > A: p.V292M	rs150549265	chr7:55221830	—	A = 0.000004	1
KIT	NM_000222.2: c.G148T: p.V50L	rs200950545	chr4:55561758	Uncertain significance	T = 0.000033	1
KDR	NM_002253: c.G2678C: p.G893A	—	chr4:55962446	—	—	1
RB1	NM_000321.2: c.2056 C > A: p.H686N	—	chr13:49033919	—	—	1
RB1	NM_000321.2: c.2002C > T: p.R668C	rs369755801	chr13:49033865	—	T = 0.000028	1
RB1	NM_000321.2: c.1690C > T: p.L564F	—	chr13:48955574	—	—	1
CDKN2A	NM_000077.4: c.307 C > T: p.R103W	rs767642535	chr9:21971051	Uncertain significance	A = 0.000004	1
SMO	NM_005631.4: c.618 G > A: p.W206*	rs751636409	chr7:128845124	—	A = 0.000008	1
KRAS	NM_0.004985.4: c.35 G > A: p.G12D	rs121913529	chr12:25398284	Pathogenic	A = 0.000004	1