|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
폐암종류 > 소세포암 |
|
|
|
|
|
Total : 30 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
No |
Gene |
CHR |
SNV |
NR/R |
Mutation Type |
Amino Acid |
Strand |
Reference |
|
|
|
|
|
1 |
AKT1 |
14q32.3 |
rs121434592 |
C/T |
missense |
p.E17K |
-1 |
Wakuda et al., 2014, Lung Cancer. |
|
|
|
|
|
2 |
B2M |
15q21.1 |
rs1057519879 |
T/C |
start_lost |
p.M1T |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
3 |
B2M |
15q21.1 |
rs1023835002 |
A/T |
start_lost |
p.M1L |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
4 |
B2M |
15q21.1 |
rs1023835002 |
A/G |
start_lost |
p.M1V |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
5 |
B2M |
15q21.1 |
rs1057519877 |
G/A |
start_lost |
p.M1I |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
6 |
B2M |
15q21.1 |
rs1057519879 |
T/G |
start_lost |
p.M1R |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
7 |
PIK3CA |
3q26.32 |
rs1057519927 |
A/C |
missense |
p.E542A |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
8 |
PIK3CA |
3q26.32 |
rs121913273 |
G/C |
missense |
p.E542Q |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
9 |
PIK3CA |
3q26.32 |
rs1057519927 |
A/T |
missense |
p.E542V |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
10 |
PIK3CA |
3q26.32 |
rs1057519927 |
A/G |
missense |
p.E542G |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
11 |
PIK3CA |
3q26.32 |
rs104886003 |
G/A |
missense |
p.E545K |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
12 |
PIK3CA |
3q26.32 |
rs121913274 |
A/C |
missense |
p.E545A |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
13 |
PIK3CA |
3q26.32 |
rs121913274 |
A/G |
missense |
p.E545G |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
14 |
PIK3CA |
3q26.32 |
rs104886003 |
G/C |
missense |
p.E545Q |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
15 |
PIK3CA |
3q26.32 |
rs121913275 |
G/T |
missense |
p.E545D |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
16 |
PIK3CA |
3q26.32 |
rs121913273 |
G/A |
missense |
p.E542K |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
17 |
PTEN |
10q23.3 |
rs121909229 |
G/A |
missense |
p.R130Q |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
18 |
PTEN |
10q23.3 |
rs121909229 |
G/C |
missense |
p.R130P |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
19 |
PTEN |
10q23.3 |
rs121909229 |
G/T |
missense |
p.R130L |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
20 |
PTEN |
10q23.3 |
rs121909224 |
C/G |
missense |
p.R130G |
1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
21 |
RB1 |
13q14.2 |
rs121913295 |
G/T |
missense |
p.C706F |
1 |
MacConaill et al., 2014, J Mol Diagn. |
|
|
|
|
|
22 |
TP53 |
17p13.1 |
rs1057519747 |
A/C |
missense |
p.V173G |
-1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
23 |
TP53 |
17p13.1 |
rs1057519747 |
A/G |
missense |
p.V173A |
-1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
24 |
TP53 |
17p13.1 |
rs121912666 |
T/C |
missense |
p.Y220C |
-1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
25 |
TP53 |
17p13.1 |
rs786201059 |
C/T |
missense |
p.E286K |
-1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
26 |
TP53 |
17p13.1 |
rs1057519985 |
T/C |
missense |
p.E286G |
-1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
27 |
TP53 |
17p13.1 |
rs786201059 |
C/G |
missense |
p.E286Q |
-1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
28 |
TP53 |
17p13.1 |
rs1057519985 |
T/A |
missense |
p.E286V |
-1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
29 |
TP53 |
17p13.1 |
rs1057519985 |
T/G |
missense |
p.E286A |
-1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
30 |
TP53 |
17p13.1 |
rs985033810 |
C/T |
missense |
p.G244D |
-1 |
Chang et al., 2016, Nat. Biotechnol. |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|