rs137852696
|
|
3
|
0.882 |
0.120 |
1 |
40092409 |
missense variant
|
T/G
|
snv |
1.6E-05
|
5.6E-05
|
0.010 |
1.000 |
1 |
2006 |
2006 |
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 |
rs750033880
|
|
3
|
0.925 |
0.120 |
7 |
66633302 |
missense variant
|
G/A
|
snv |
|
1.4E-05
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs796052407
|
|
1
|
1.000 |
0.120 |
11 |
1759569 |
missense variant
|
G/A
|
snv |
4.0E-06
|
4.2E-05
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs104894386
|
|
2
|
0.925 |
0.120 |
13 |
76995077 |
missense variant
|
G/A;C
|
snv |
8.0E-06
|
|
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 |
|
|
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 |
|
|
rs28940280
|
|
2
|
0.925 |
0.120 |
13 |
77000580 |
missense variant
|
G/A
|
snv |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs386833975
|
|
2
|
0.925 |
0.120 |
13 |
76995990 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs587779411
|
|
5
|
0.851 |
0.160 |
8 |
1780498 |
missense variant
|
C/G;T
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs750428882
|
|
2
|
1.000 |
0.120 |
11 |
6616375 |
missense variant
|
G/A;C
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs763162812
|
|
2
|
0.925 |
0.120 |
11 |
6616720 |
missense variant
|
T/A
|
snv |
1.6E-05
|
2.8E-05
|
0.700 |
|
0 |
|
|
rs765380155
|
|
2
|
0.925 |
0.120 |
11 |
6616374 |
missense variant
|
C/T
|
snv |
4.0E-06
|
1.4E-05
|
0.700 |
|
0 |
|
|
rs1267314028
|
|
1
|
1.000 |
0.120 |
16 |
28486388 |
synonymous variant
|
G/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs762896453
|
|
1
|
1.000 |
0.120 |
16 |
28482353 |
synonymous variant
|
G/A
|
snv |
4.0E-06
|
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs113019349
|
|
2
|
0.925 |
0.120 |
11 |
6616004 |
splice donor variant
|
C/G;T
|
snv |
|
|
0.700 |
1.000 |
1 |
1999 |
1999 |
rs1555468634
|
|
2
|
0.925 |
0.120 |
16 |
28485965 |
splice donor variant
|
ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs386833651
|
|
2
|
0.925 |
0.120 |
1 |
40089409 |
splice donor variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs587778809
|
|
2
|
0.925 |
0.120 |
4 |
127938781 |
splice donor variant
|
A/T
|
snv |
8.0E-06
|
2.8E-05
|
0.700 |
|
0 |
|
|
rs386833966
|
|
2
|
0.925 |
0.120 |
13 |
77000824 |
frameshift variant
|
T/-
|
delins |
|
|
0.700 |
1.000 |
6 |
1998 |
2013 |
rs386833969
|
|
2
|
0.925 |
0.120 |
13 |
77000918 |
frameshift variant
|
AT/-
|
delins |
|
|
0.700 |
1.000 |
5 |
2002 |
2013 |