rs770374710
|
|
87
|
0.611 |
0.560 |
15 |
23645747 |
frameshift variant
|
G/-;GG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs2010963
|
|
82
|
0.542 |
0.840 |
6 |
43770613 |
5 prime UTR variant
|
C/G
|
snv |
|
0.68
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs587777893
|
|
67
|
0.658 |
0.240 |
1 |
11128107 |
missense variant
|
G/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1554317002
|
|
45
|
0.724 |
0.440 |
7 |
39950821 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
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 |
|
|
rs866294686
|
|
43
|
0.683 |
0.480 |
10 |
102657073 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs79184941
|
|
41
|
0.617 |
0.600 |
10 |
121520163 |
missense variant
|
G/A;C
|
snv |
5.6E-05;
4.0E-06
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs28937900
|
|
37
|
0.752 |
0.160 |
19 |
46756276 |
missense variant
|
C/A;T
|
snv |
1.0E-03
|
|
0.700 |
|
0 |
|
|
rs1331463984
|
|
33
|
0.701 |
0.240 |
16 |
2176350 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1569518070
|
|
33
|
0.752 |
0.480 |
21 |
45989088 |
inframe deletion
|
AAC/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs543860009
|
|
33
|
0.742 |
0.320 |
2 |
178589003 |
stop gained
|
G/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs878854378
|
|
33
|
0.742 |
0.320 |
2 |
178533657 |
inframe deletion
|
GTT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs28934907
|
|
30
|
0.732 |
0.320 |
X |
154032268 |
missense variant
|
G/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs77543610
|
|
28
|
0.667 |
0.560 |
10 |
121520160 |
missense variant
|
G/C
|
snv |
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs1294950721
|
|
27
|
0.807 |
0.360 |
20 |
10645355 |
splice donor variant
|
C/A;T
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs6214
|
|
26
|
0.672 |
0.400 |
12 |
102399791 |
3 prime UTR variant
|
C/T
|
snv |
|
0.45
|
0.020 |
1.000 |
2 |
2011 |
2016 |
rs1554208945
|
|
26
|
0.752 |
0.240 |
6 |
87260207 |
missense variant
|
A/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs142239530
|
|
24
|
0.790 |
0.320 |
11 |
4091328 |
missense variant
|
C/G;T
|
snv |
4.4E-05
|
|
0.700 |
|
0 |
|
|
rs1562127631
|
|
24
|
0.742 |
0.360 |
6 |
78961751 |
frameshift variant
|
C/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs387907141
|
|
24
|
0.752 |
0.360 |
6 |
157181137 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs864321670
|
|
24
|
0.763 |
0.320 |
10 |
95633012 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555429629
|
|
23
|
0.763 |
0.200 |
15 |
40729632 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555735545
|
|
22
|
0.851 |
0.160 |
19 |
46746071 |
5 prime UTR variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1554210073
|
|
21
|
0.752 |
0.320 |
6 |
79042844 |
frameshift variant
|
GT/A
|
delins |
|
|
0.700 |
|
0 |
|
|