rs121908188
|
|
25
|
0.742 |
0.360 |
1 |
25809753 |
missense variant
|
G/A;C
|
snv |
1.8E-04
|
|
0.700 |
|
0 |
|
|
rs1276519904
|
|
63
|
0.645 |
0.520 |
1 |
226071445 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1553621496
|
|
53
|
0.677 |
0.440 |
2 |
209976305 |
splice donor variant
|
T/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1554699491
|
|
23
|
0.763 |
0.280 |
9 |
85596450 |
splice acceptor variant
|
C/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555038029
|
|
12
|
0.776 |
0.400 |
11 |
118477973 |
stop gained
|
C/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555745467
|
|
23
|
0.752 |
0.240 |
19 |
13262771 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1559931177
|
|
34
|
0.827 |
0.120 |
3 |
49047207 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1563183492
|
|
32
|
0.708 |
0.520 |
7 |
70766248 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1565679039
|
|
45
|
0.701 |
0.400 |
12 |
47983399 |
stop gained
|
T/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1569518070
|
|
33
|
0.752 |
0.480 |
21 |
45989088 |
inframe deletion
|
AAC/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs199469465
|
|
50
|
0.672 |
0.560 |
16 |
30737343 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs199564797
|
|
25
|
0.742 |
0.360 |
1 |
25809150 |
missense variant
|
G/A
|
snv |
1.2E-05
|
1.4E-05
|
0.700 |
|
0 |
|
|
rs28934907
|
|
30
|
0.732 |
0.320 |
X |
154032268 |
missense variant
|
G/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs745886248
|
|
25
|
0.742 |
0.360 |
1 |
25811710 |
missense variant
|
G/A;C;T
|
snv |
4.3E-06;
4.3E-06;
4.3E-06
|
|
0.700 |
|
0 |
|
|
rs770374710
|
|
87
|
0.611 |
0.560 |
15 |
23645747 |
frameshift variant
|
G/-;GG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs771237928
|
|
14
|
0.752 |
0.280 |
1 |
119915813 |
frameshift variant
|
G/-;GG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs780631499
|
|
23
|
0.763 |
0.280 |
9 |
85588465 |
frameshift variant
|
G/-
|
del |
4.0E-06
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs866294686
|
|
43
|
0.683 |
0.480 |
10 |
102657073 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs878853250
|
|
37
|
0.752 |
0.360 |
12 |
51699663 |
stop gained
|
T/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs878855328
|
|
4
|
0.882 |
0.120 |
1 |
11117039 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs886041065
|
|
43
|
0.677 |
0.600 |
2 |
25743913 |
frameshift variant
|
G/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1801278
|
|
38
|
0.637 |
0.560 |
2 |
226795828 |
missense variant
|
C/G;T
|
snv |
4.0E-06;
5.2E-02
|
|
0.020 |
1.000 |
2 |
2006 |
2016 |
rs104894578
|
|
6
|
0.807 |
0.280 |
17 |
70175691 |
missense variant
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs1137101
|
|
77
|
0.554 |
0.760 |
1 |
65592830 |
missense variant
|
A/G
|
snv |
0.51
|
0.50
|
0.060 |
1.000 |
6 |
2007 |
2019 |