rs1559931177
|
|
34
|
0.827 |
0.120 |
3 |
49047207 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1566785444
|
|
20
|
0.827 |
0.200 |
14 |
77025671 |
frameshift variant
|
C/-
|
delins |
|
|
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 |
|
|
rs267607261
|
|
28
|
0.807 |
0.280 |
2 |
27312753 |
stop gained
|
C/T
|
snv |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs28937900
|
|
37
|
0.752 |
0.160 |
19 |
46756276 |
missense variant
|
C/A;T
|
snv |
1.0E-03
|
|
0.700 |
|
0 |
|
|
rs368900406
|
|
27
|
0.827 |
0.160 |
2 |
27312255 |
non coding transcript exon variant
|
A/C
|
snv |
8.0E-06
|
2.1E-05
|
0.700 |
|
0 |
|
|
rs61755320
|
|
41
|
0.716 |
0.520 |
16 |
89546737 |
missense variant
|
C/T
|
snv |
2.9E-03
|
3.5E-03
|
0.700 |
|
0 |
|
|
rs746438011
|
|
4
|
0.882 |
0.120 |
6 |
152430672 |
missense variant
|
A/G;T
|
snv |
1.2E-05
|
|
0.700 |
|
0 |
|
|
rs747900252
|
|
6
|
0.925 |
0.160 |
21 |
46125776 |
intron variant
|
G/A
|
snv |
1.1E-04
|
7.7E-05
|
0.700 |
|
0 |
|
|
rs776969714
|
|
34
|
0.752 |
0.240 |
4 |
25145129 |
splice acceptor variant
|
-/C
|
delins |
|
4.2E-05
|
0.700 |
|
0 |
|
|
rs780631499
|
|
23
|
0.763 |
0.280 |
9 |
85588465 |
frameshift variant
|
G/-
|
del |
4.0E-06
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs781934508
|
|
4
|
1.000 |
0.080 |
9 |
133352441 |
splice region variant
|
C/A;T
|
snv |
2.4E-05
|
|
0.700 |
|
0 |
|
|
rs782316919
|
|
9
|
0.827 |
0.160 |
9 |
133351970 |
frameshift variant
|
AG/-
|
delins |
|
8.4E-05
|
0.700 |
|
0 |
|
|
rs80338800
|
|
21
|
0.827 |
0.120 |
15 |
42387803 |
frameshift variant
|
A/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs80359473
|
|
12
|
0.807 |
0.400 |
13 |
32339288 |
frameshift variant
|
GAAA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs914586984
|
|
9
|
1.000 |
0.120 |
17 |
63959275 |
missense variant
|
G/C;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs137853305
|
|
7
|
0.851 |
0.120 |
9 |
35685529 |
missense variant
|
G/A
|
snv |
|
|
0.030 |
1.000 |
3 |
2007 |
2010 |
rs118192170
|
|
6
|
0.882 |
0.120 |
19 |
38584989 |
missense variant
|
T/A;C
|
snv |
|
|
0.020 |
1.000 |
2 |
2001 |
2002 |
rs121912438
|
|
58
|
0.605 |
0.520 |
21 |
31667299 |
missense variant
|
G/A;C;T
|
snv |
1.2E-05;
8.0E-06
|
|
0.020 |
1.000 |
2 |
2004 |
2011 |
rs121912443
|
|
15
|
0.732 |
0.160 |
21 |
31663857 |
missense variant
|
A/G
|
snv |
|
|
0.020 |
1.000 |
2 |
1996 |
2007 |
rs387906789
|
|
14
|
0.742 |
0.200 |
9 |
35065352 |
missense variant
|
G/A;C
|
snv |
4.0E-06
|
|
0.020 |
1.000 |
2 |
2009 |
2013 |
rs80356624
|
|
16
|
0.752 |
0.240 |
11 |
17387490 |
missense variant
|
C/A;T
|
snv |
|
|
0.020 |
1.000 |
2 |
2005 |
2006 |
rs104894369
|
|
10
|
0.807 |
0.080 |
12 |
110914287 |
missense variant
|
C/A;T
|
snv |
|
|
0.010 |
< 0.001 |
1 |
2019 |
2019 |
rs113994099
|
|
10
|
0.827 |
0.240 |
15 |
89320883 |
missense variant
|
T/C
|
snv |
|
|
0.010 |
1.000 |
1 |
2007 |
2007 |