Skip to main content
. 2023 Jun 7;29(21):3302–3317. doi: 10.3748/wjg.v29.i21.3302

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
1

Nonsense mutation leading to protein inactivation.