Table 2.
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 |
Nonsense mutation leading to protein inactivation.