rs4124874 |
|
0.851 |
0.120 |
2 |
233757013 |
intron variant
|
T/A;G
|
snv
|
|
|
8
|
rs34993780 |
|
0.827 |
0.120 |
2 |
233772413 |
missense variant
|
T/A;C;G
|
snv
|
2.2E-04
|
|
7
|
rs34946978 |
|
0.851 |
0.120 |
2 |
233768226 |
missense variant
|
C/G;T
|
snv
|
1.2E-03
|
|
6
|
rs4148326 |
|
0.925 |
0.080 |
2 |
233764816 |
intron variant
|
T/C
|
snv
|
|
0.49
|
5
|
rs748219743 |
|
1.000 |
0.080 |
2 |
233760634 |
frameshift variant
|
-/A
|
delins
|
|
|
4
|
rs281865418 |
|
0.882 |
0.080 |
2 |
233761127 |
stop gained
|
C/A;G
|
snv
|
|
|
3
|
rs1349037761 |
|
0.925 |
0.080 |
2 |
233768262 |
missense variant
|
A/G
|
snv
|
|
|
2
|
rs35003977 |
|
0.925 |
0.080 |
2 |
233760961 |
missense variant
|
T/G
|
snv
|
5.9E-04
|
3.6E-04
|
2
|
rs72551343 |
|
0.925 |
0.080 |
2 |
233760912 |
missense variant
|
C/A;G;T
|
snv
|
4.0E-06;
4.0E-06;
3.2E-05
|
|
2
|
rs1476500325 |
|
0.925 |
0.080 |
2 |
233772338 |
missense variant
|
T/C
|
snv
|
|
7.0E-06
|
2
|
rs139607673 |
|
0.925 |
0.080 |
2 |
233767858 |
missense variant
|
C/T
|
snv
|
8.0E-06;
4.0E-06
|
1.4E-05
|
2
|
rs1283652721 |
|
0.925 |
0.080 |
2 |
233768265 |
missense variant
|
G/T
|
snv
|
|
7.0E-06
|
2
|
rs72551349 |
|
0.925 |
0.080 |
2 |
233767873 |
stop gained
|
C/G;T
|
snv
|
4.0E-06;
2.8E-05
|
|
2
|
rs62625011 |
|
0.925 |
0.080 |
2 |
233767092 |
missense variant
|
G/A
|
snv
|
1.2E-05
|
|
2
|
rs111033539 |
|
0.925 |
0.080 |
2 |
233767160 |
stop gained
|
C/T
|
snv
|
|
|
2
|
rs773195449 |
|
1.000 |
0.080 |
2 |
233767876 |
missense variant
|
C/A;T
|
snv
|
4.0E-06;
8.0E-06
|
|
1
|
rs72551356 |
|
1.000 |
0.080 |
2 |
233768417 |
missense variant
|
A/G
|
snv
|
|
|
1
|
rs587776765 |
|
1.000 |
0.080 |
2 |
233760432 |
stop gained
|
C/T
|
snv
|
|
|
1
|
rs587776766 |
|
1.000 |
0.080 |
2 |
233768218 |
splice acceptor variant
|
A/G
|
snv
|
|
|
1
|
rs766536479 |
|
1.000 |
0.080 |
2 |
233760908 |
frameshift variant
|
-/CAGC
|
delins
|
1.2E-05
|
|
1
|
rs72551351 |
|
1.000 |
0.080 |
2 |
233767922 |
missense variant
|
A/G
|
snv
|
4.0E-06
|
|
1
|
rs72551339 |
|
1.000 |
0.080 |
2 |
233760402 |
missense variant
|
C/G
|
snv
|
|
|
1
|
rs72551353 |
|
1.000 |
0.080 |
2 |
233768259 |
missense variant
|
C/T
|
snv
|
|
7.0E-06
|
1
|
rs1553620849 |
|
1.000 |
0.080 |
2 |
233760895 |
inframe deletion
|
CATGACCTTCCTGCAGCGGGTGAA/-
|
delins
|
|
|
1
|
rs367897068 |
|
1.000 |
0.080 |
2 |
233768319 |
missense variant
|
G/A;C;T
|
snv
|
6.4E-05;
1.6E-05
|
|
1
|