rs1057519389
|
|
46
|
0.695 |
0.400 |
10 |
129957324 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs121434591
|
|
5
|
1.000 |
|
5 |
139307669 |
missense variant
|
C/G
|
snv |
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs121912438
|
|
58
|
0.605 |
0.520 |
21 |
31667299 |
missense variant
|
G/A;C;T
|
snv |
1.2E-05;
8.0E-06
|
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs1334099693
|
|
11
|
0.882 |
0.080 |
6 |
21594732 |
missense variant
|
C/A;T
|
snv |
4.6E-06
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs151344517
|
|
31
|
0.742 |
0.320 |
18 |
12337505 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs202102815
|
|
1
|
|
|
17 |
63941396 |
missense variant
|
G/A;T
|
snv |
1.5E-04;
8.0E-06
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs28937581
|
|
9
|
0.827 |
0.160 |
2 |
71570300 |
missense variant
|
G/T
|
snv |
1.2E-05
|
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs63750687
|
|
33
|
0.752 |
0.200 |
14 |
73217137 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1064796765
|
|
19
|
0.763 |
0.240 |
14 |
102002950 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs121908096
|
|
10
|
0.827 |
0.320 |
2 |
218814186 |
missense variant
|
C/A;T
|
snv |
8.0E-06;
2.9E-04
|
|
0.700 |
|
0 |
|
|
rs1276519904
|
|
63
|
0.645 |
0.520 |
1 |
226071445 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1345176461
|
|
40
|
0.716 |
0.240 |
14 |
77027231 |
stop gained
|
G/A;T
|
snv |
4.3E-06
|
|
0.700 |
|
0 |
|
|
rs1448259271
|
|
23
|
0.790 |
0.240 |
14 |
77027279 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1553475005
|
|
4
|
1.000 |
0.120 |
2 |
174824485 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1554699491
|
|
23
|
0.763 |
0.280 |
9 |
85596450 |
splice acceptor variant
|
C/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555377415
|
|
18
|
0.827 |
0.200 |
14 |
77027274 |
stop gained
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555727493
|
|
46
|
0.742 |
0.480 |
19 |
35718020 |
frameshift variant
|
-/GGCGGGCGGCGGC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555968941
|
|
31
|
0.752 |
0.280 |
12 |
2653847 |
missense variant
|
G/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1556914274
|
|
13
|
0.790 |
0.440 |
X |
53537626 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1566785990
|
|
12
|
0.851 |
0.120 |
14 |
77026534 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs200661329
|
|
48
|
0.708 |
0.440 |
16 |
576255 |
splice donor variant
|
G/A;C
|
snv |
5.7E-05
|
|
0.700 |
|
0 |
|
|
rs28934907
|
|
30
|
0.732 |
0.320 |
X |
154032268 |
missense variant
|
G/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs770374710
|
|
87
|
0.611 |
0.560 |
15 |
23645747 |
frameshift variant
|
G/-;GG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs774277300
|
|
17
|
0.742 |
0.360 |
11 |
94447276 |
stop gained
|
G/A;C;T
|
snv |
2.8E-05;
4.0E-05;
4.0E-06
|
|
0.700 |
|
0 |
|
|