rs1562846694
|
|
32
|
0.763 |
0.320 |
7 |
100643252 |
inframe deletion
|
TTCGCTCCACGCACT/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs121434589
|
|
8
|
0.851 |
0.200 |
17 |
10535137 |
missense variant
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs104894369
|
|
10
|
0.807 |
0.080 |
12 |
110914287 |
missense variant
|
C/A;T
|
snv |
|
|
0.010 |
< 0.001 |
1 |
2019 |
2019 |
rs35049558
|
|
8
|
0.851 |
0.040 |
12 |
110914287 |
frameshift variant
|
-/CT
|
ins |
8.0E-06
|
|
0.010 |
< 0.001 |
1 |
2019 |
2019 |
rs121918459
|
|
47
|
0.662 |
0.440 |
12 |
112450368 |
missense variant
|
A/G
|
snv |
1.2E-05
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1555206402
|
|
26
|
0.790 |
0.320 |
11 |
119093274 |
stop lost
|
GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs151344517
|
|
31
|
0.742 |
0.320 |
18 |
12337505 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs867410737
|
|
45
|
0.708 |
0.440 |
19 |
1242559 |
missense variant
|
C/T
|
snv |
6.7E-06
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs121908893
|
|
3
|
1.000 |
0.160 |
5 |
132385435 |
stop gained
|
C/A;T
|
snv |
5.3E-04;
1.2E-04
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs782316919
|
|
9
|
0.827 |
0.160 |
9 |
133351970 |
frameshift variant
|
AG/-
|
delins |
|
8.4E-05
|
0.700 |
|
0 |
|
|
rs781934508
|
|
4
|
1.000 |
0.080 |
9 |
133352441 |
splice region variant
|
C/A;T
|
snv |
2.4E-05
|
|
0.700 |
|
0 |
|
|
rs121908211
|
|
5
|
0.882 |
0.080 |
19 |
13371744 |
missense variant
|
C/T
|
snv |
|
|
0.010 |
< 0.001 |
1 |
2005 |
2005 |
rs794728448
|
|
17
|
0.724 |
0.280 |
7 |
150948445 |
frameshift variant
|
CT/G
|
delins |
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs1805123
|
|
18
|
0.724 |
0.280 |
7 |
150948446 |
missense variant
|
T/A;C;G
|
snv |
1.3E-05;
0.18;
8.4E-06
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs767910122
|
|
17
|
0.724 |
0.280 |
7 |
150948446 |
frameshift variant
|
-/GTCCG
|
ins |
|
4.4E-05
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs117184249
|
|
3
|
1.000 |
0.120 |
6 |
152401278 |
missense variant
|
C/T
|
snv |
9.3E-04
|
4.0E-04
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs746438011
|
|
4
|
0.882 |
0.120 |
6 |
152430672 |
missense variant
|
A/G;T
|
snv |
1.2E-05
|
|
0.700 |
|
0 |
|
|
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs199474714
|
|
4
|
0.925 |
0.080 |
1 |
154173113 |
missense variant
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs772816537
|
|
3
|
1.000 |
0.080 |
1 |
154173179 |
missense variant
|
G/A
|
snv |
8.0E-06
|
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs57983345
|
|
6
|
0.851 |
0.160 |
1 |
156115034 |
missense variant
|
A/G
|
snv |
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs61672878
|
|
11
|
0.776 |
0.200 |
1 |
156136094 |
missense variant
|
G/A;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs142000963
|
|
8
|
0.807 |
0.240 |
1 |
156138719 |
missense variant
|
C/A;T
|
snv |
1.2E-03
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs1556424691
|
|
13
|
0.851 |
0.200 |
MT |
15923 |
non coding transcript exon variant
|
A/G
|
snv |
|
|
0.700 |
1.000 |
4 |
1993 |
2018 |
rs1373219981
|
|
2
|
|
|
1 |
17011736 |
start lost
|
C/A
|
snv |
1.3E-05
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |