rs1555377415
|
|
18
|
0.827 |
0.200 |
14 |
77027274 |
stop gained
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1566785990
|
|
12
|
0.851 |
0.120 |
14 |
77026534 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs149830411
|
|
15
|
0.827 |
0.360 |
17 |
46171276 |
stop gained
|
G/A
|
snv |
5.2E-05
|
5.6E-05
|
0.700 |
|
0 |
|
|
rs387907260
|
|
22
|
0.776 |
0.280 |
7 |
66633410 |
missense variant
|
C/T
|
snv |
4.0E-06
|
1.4E-05
|
0.700 |
|
0 |
|
|
rs796052686
|
|
22
|
0.776 |
0.280 |
7 |
66638394 |
missense variant
|
G/A
|
snv |
1.2E-05
|
|
0.700 |
|
0 |
|
|
rs861539
|
|
104
|
0.519 |
0.680 |
14 |
103699416 |
missense variant
|
G/A
|
snv |
0.29
|
0.30
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs1555727493
|
|
46
|
0.742 |
0.480 |
19 |
35718020 |
frameshift variant
|
-/GGCGGGCGGCGGC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs770374710
|
|
87
|
0.611 |
0.560 |
15 |
23645747 |
frameshift variant
|
G/-;GG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs121434591
|
|
5
|
1.000 |
|
5 |
139307669 |
missense variant
|
C/G
|
snv |
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs28934907
|
|
30
|
0.732 |
0.320 |
X |
154032268 |
missense variant
|
G/A;C
|
snv |
|
|
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 |
|
|
rs137852959
|
|
9
|
0.790 |
0.160 |
20 |
3918695 |
missense variant
|
G/A
|
snv |
8.7E-05
|
2.3E-04
|
0.700 |
|
0 |
|
|
rs200661329
|
|
48
|
0.708 |
0.440 |
16 |
576255 |
splice donor variant
|
G/A;C
|
snv |
5.7E-05
|
|
0.700 |
|
0 |
|
|
rs63750687
|
|
33
|
0.752 |
0.200 |
14 |
73217137 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs368869806
|
|
97
|
0.614 |
0.480 |
9 |
95485875 |
splice acceptor variant
|
C/T
|
snv |
4.0E-06
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs781565158
|
|
22
|
0.851 |
0.120 |
12 |
21452130 |
missense variant
|
A/G
|
snv |
4.7E-05
|
2.1E-05
|
0.700 |
|
0 |
|
|
rs202102815
|
|
1
|
|
|
17 |
63941396 |
missense variant
|
G/A;T
|
snv |
1.5E-04;
8.0E-06
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs912001256
|
|
17
|
0.851 |
0.240 |
17 |
63947062 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs121908557
|
|
23
|
0.752 |
0.280 |
17 |
63957514 |
missense variant
|
C/T
|
snv |
8.2E-06
|
1.4E-05
|
0.700 |
1.000 |
2 |
2004 |
2008 |
rs878853250
|
|
37
|
0.752 |
0.360 |
12 |
51699663 |
stop gained
|
T/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
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 |
rs201518227
|
|
13
|
1.000 |
|
1 |
179917914 |
missense variant
|
C/T
|
snv |
3.2E-05
|
5.6E-05
|
0.700 |
|
0 |
|
|
rs34757931
|
|
26
|
0.742 |
0.360 |
11 |
119081189 |
missense variant
|
T/G
|
snv |
1.2E-04
|
5.6E-05
|
0.700 |
|
0 |
|
|