rs1064795104
|
|
17
|
0.790 |
0.440 |
2 |
72498492 |
stop gained
|
A/C
|
snv |
|
|
0.700 |
1.000 |
2 |
2013 |
2014 |
rs1057516036
|
|
4
|
0.925 |
0.160 |
7 |
94423065 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs151344517
|
|
31
|
0.742 |
0.320 |
18 |
12337505 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1557043622
|
|
46
|
0.695 |
0.400 |
X |
48909843 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1010184002
|
|
60
|
0.689 |
0.400 |
6 |
42978878 |
stop gained
|
C/T
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1057518930
|
|
3
|
1.000 |
0.080 |
17 |
50197009 |
splice donor variant
|
C/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs121918459
|
|
47
|
0.662 |
0.440 |
12 |
112450368 |
missense variant
|
A/G
|
snv |
1.2E-05
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs139751598
|
|
13
|
0.851 |
0.240 |
17 |
81934931 |
missense variant
|
C/T
|
snv |
2.4E-05
|
4.2E-05
|
0.700 |
|
0 |
|
|
rs1423415130
|
|
6
|
0.851 |
0.120 |
17 |
50360241 |
missense variant
|
G/A
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1555222973
|
|
6
|
0.851 |
0.160 |
11 |
46312636 |
inframe deletion
|
AAG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1569508922
|
|
5
|
0.882 |
0.160 |
X |
111681268 |
missense variant
|
T/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs312262690
|
|
28
|
0.752 |
0.320 |
4 |
79984831 |
frameshift variant
|
-/G;GG
|
delins |
1.7E-05
|
|
0.700 |
|
0 |
|
|
rs527624522
|
|
5
|
0.925 |
0.080 |
11 |
44107723 |
missense variant
|
C/T
|
snv |
6.4E-05
|
2.1E-05
|
0.700 |
|
0 |
|
|
rs587782995
|
|
42
|
0.708 |
0.360 |
5 |
140114480 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs587784177
|
|
20
|
0.790 |
0.280 |
5 |
177283827 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs61753219
|
|
64
|
0.672 |
0.400 |
6 |
42978330 |
missense variant
|
G/A
|
snv |
3.6E-05
|
2.8E-05
|
0.700 |
|
0 |
|
|
rs61816761
|
|
43
|
0.658 |
0.640 |
1 |
152313385 |
stop gained
|
G/A;T
|
snv |
9.4E-03;
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs66527965
|
|
31
|
0.763 |
0.240 |
17 |
50193038 |
missense variant
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs751093906
|
|
8
|
0.882 |
0.200 |
8 |
42472255 |
stop gained
|
G/A;C
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs759191907
|
|
25
|
0.776 |
0.360 |
9 |
127825225 |
splice region variant
|
A/G
|
snv |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs770374710
|
|
87
|
0.611 |
0.560 |
15 |
23645747 |
frameshift variant
|
G/-;GG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs863225045
|
|
15
|
0.790 |
0.360 |
10 |
95637327 |
missense variant
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs121909149
|
|
2
|
0.925 |
0.160 |
4 |
2831573 |
missense variant
|
G/A;C
|
snv |
|
|
0.020 |
1.000 |
2 |
2012 |
2014 |
rs28360457
|
|
3
|
0.882 |
0.200 |
12 |
121175426 |
missense variant
|
G/A
|
snv |
8.6E-03
|
1.1E-02
|
0.020 |
1.000 |
2 |
2012 |
2012 |