1:138950859
|
A→G |
COPA |
I→V non-synonymous change |
nucleoside-triphosphatase regulator, ion binding, protein binding |
6:129544096
|
A→G |
ARIH2 |
K→K synonymous change |
ion binding, nucleic acid binding, protein binding |
6:38781096
|
A→G |
RICTOR |
R→G non-synonymous change |
protein binding |
7:89331048
|
A→G |
NOVA1 |
S→G non-synonymous change, protein stability [51]
|
nucleic acid binding, protein binding |
X:150275345
|
A→G |
GABRA3 |
I→M non-synonymous change, trafficking [52]
|
ion binding, protein binding, substrate-specific & transmembrane transporter, neurotransmitter binding, signal transducer |
10:26945910
|
A→G |
BLCAP |
Y→C non-synonymous change, cancer biomarker [53]
|
- |
10:26945919
|
A→G |
BLCAP |
Q→R non-synonymous change, cancer biomarker [53]
|
- |
10:26945949
|
A→G |
BLCAP |
K→R non-synonymous change, cancer biomarker [53]
|
- |
11:5028364
|
A→G |
KCNA1 |
affinity for blocking particle, kinetics of channel inactivation [34]
|
ion binding, protein binding, substrate-specific & transmembrane transporter |
12:73754116
|
A→G |
UNC80 |
S→G non-synonymous change |
- |
17:24407704
|
A→G |
COG3 |
I→V non-synonymous change |
protein binding, substrate-specific transporter |
5:72269698
|
A→G |
IGFBP7 |
K→R non-synonymous change, proteolytic cleavage [54], physiological properties [23]
|
protein binding |
6:153684514
|
A→G |
CYFIP2 |
K→E non-synonymous change, biomarker for ALS [55]
|
protein binding |
X:152404069
|
A→G |
FLNA |
Q→R non-synonymous change, physiological properties [23]
|
protein binding, signal transducer |
11:47207718
|
A→G |
ASIC1 |
T→A non-synonymous change |
- |
7:54257914
|
A→G |
NEIL1 |
K→R non-synonymous change, nucleotide removal efficiency [36]
|
ion binding, nucleic acid binding, protein binding, hydrolase |
7:54257915
|
A→G |
NEIL1 |
K→K synonymous change, nucleotide removal efficiency [36]
|
ion binding, nucleic acid binding, protein binding, hydrolase |
5:149561914
|
A→G |
GRIA2 |
Q→R non-synonymous change, Ca-permeability [56], channel trafficking [57], receptor assembly [58]
|
protein binding, substrate-specific & transmembrane transporter, signal transducer |
5:149561918
|
A→G |
GRIA2 |
Q→Q synonymous change |
protein binding, substrate-specific & transmembrane transporter, signal transducer |
1:134852231
|
A→G |
SMG5 |
R→G non-synonymous change |
protein binding |
3:13010093
|
A→G |
SON |
L→L synonymous change |
nucleic acid binding, protein binding |
7:43601461
|
A→G |
PDCD7 |
Q→R non-synonymous change |
- |
2:78236903
|
A→G |
FLNB |
M→V non-synonymous change |
protein binding |
4:33833717
|
A→G |
GRM4 |
Q→R non-synonymous change |
metabotropic glutamate, GABA-B-like receptor, signal transducer |
4: 44072645
|
A→G |
TMEM63B |
Q→R non-synonymous change |
- |
8:9841193
|
A→G |
XKR6 |
R→G non-synonymous change |
- |
5:149585132
|
A→G |
GRIA2 |
R→G non-synonymous change |
protein binding, substrate-specific & transmembrane transporter, signal transducer |
X:148223918
|
C→T |
NOL11 |
T→I non-synonymous change |
- |