rs386833709
|
|
2
|
0.925 |
0.120 |
16 |
28489298 |
stop gained
|
G/A
|
snv |
|
1.4E-05
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs386833979
|
|
2
|
0.925 |
0.120 |
13 |
76996083 |
frameshift variant
|
-/C
|
delins |
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs398122959
|
|
2
|
0.925 |
0.120 |
11 |
6615199 |
missense variant
|
A/C
|
snv |
4.0E-06
|
1.4E-05
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs546989392
|
|
2
|
0.925 |
0.120 |
13 |
76996010 |
stop gained
|
C/T
|
snv |
2.0E-05
|
7.7E-05
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs746085696
|
|
1
|
1.000 |
0.120 |
11 |
6619191 |
splice region variant
|
C/G;T
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs104894385
|
|
2
|
0.925 |
0.120 |
13 |
76992176 |
stop gained
|
G/A;T
|
snv |
2.7E-05;
3.1E-05
|
|
0.700 |
|
0 |
|
|
rs104894386
|
|
2
|
0.925 |
0.120 |
13 |
76995077 |
missense variant
|
G/A;C
|
snv |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs104894483
|
|
3
|
0.925 |
0.120 |
15 |
68214373 |
stop gained
|
C/A;G;T
|
snv |
6.8E-05;
2.6E-03;
2.0E-05;
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs1057516677
|
|
2
|
0.925 |
0.120 |
16 |
28477875 |
stop gained
|
G/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1060502179
|
|
1
|
1.000 |
0.120 |
11 |
6618823 |
missense variant
|
A/C
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs119455957
|
|
3
|
0.882 |
0.120 |
11 |
6616696 |
missense variant
|
C/A
|
snv |
8.0E-06
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs121434286
|
|
3
|
0.882 |
0.120 |
16 |
28482500 |
stop gained
|
C/A;T
|
snv |
2.4E-05
|
|
0.700 |
|
0 |
|
|
rs121908080
|
|
2
|
0.925 |
0.120 |
15 |
68211698 |
inframe deletion
|
ATG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs121908199
|
|
2
|
0.925 |
0.120 |
11 |
6615542 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs121908200
|
|
2
|
0.925 |
0.120 |
11 |
6615442 |
missense variant
|
C/G
|
snv |
2.0E-05
|
2.1E-05
|
0.700 |
|
0 |
|
|
rs137852695
|
|
4
|
0.925 |
0.120 |
1 |
40091398 |
missense variant
|
T/A
|
snv |
7.0E-04
|
6.0E-04
|
0.700 |
|
0 |
|
|
rs140948465
|
|
2
|
0.925 |
0.120 |
4 |
127930800 |
missense variant
|
G/A;T
|
snv |
4.0E-06;
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs144495588
|
|
2
|
0.925 |
0.120 |
8 |
1771553 |
stop gained
|
G/C;T
|
snv |
8.0E-06;
1.2E-05
|
|
0.700 |
|
0 |
|
|
rs154774640
|
|
2
|
0.925 |
0.120 |
15 |
68218584 |
stop gained
|
G/C
|
snv |
8.0E-06
|
2.1E-05
|
0.700 |
|
0 |
|
|
rs1554902216
|
|
2
|
0.925 |
0.120 |
11 |
6618820 |
frameshift variant
|
AG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555273604
|
|
1
|
1.000 |
0.120 |
13 |
76992207 |
frameshift variant
|
-/ATCCGGGCTGG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555273881
|
|
1
|
1.000 |
0.120 |
13 |
76995075 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555468634
|
|
2
|
0.925 |
0.120 |
16 |
28485965 |
splice donor variant
|
ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1564855725
|
|
5
|
0.882 |
0.160 |
11 |
6617621 |
splice region variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1564855860
|
|
1
|
1.000 |
0.120 |
11 |
6617769 |
stop gained
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|