rs1557043622
|
|
46
|
0.695 |
0.400 |
X |
48909843 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1057518914
|
|
14
|
0.790 |
0.160 |
X |
20193547 |
missense variant
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs387906702
|
|
16
|
0.807 |
0.200 |
X |
53403635 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs397515415
|
|
10
|
0.807 |
0.240 |
X |
72495216 |
stop gained
|
G/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs398122394
|
|
17
|
0.763 |
0.240 |
X |
111685040 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs875989800
|
|
33
|
0.732 |
0.480 |
22 |
23833670 |
inframe deletion
|
AGA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1057518345
|
|
25
|
0.742 |
0.400 |
20 |
50894172 |
frameshift variant
|
ACTA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1569324457
|
|
7
|
0.851 |
0.280 |
20 |
32433481 |
frameshift variant
|
AG/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1114167445
|
|
15
|
0.851 |
0.160 |
19 |
40504064 |
stop gained
|
C/T
|
snv |
8.0E-06
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1060505041
|
|
34
|
0.716 |
0.400 |
19 |
13136099 |
missense variant
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs151344517
|
|
31
|
0.742 |
0.320 |
18 |
12337505 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1555640521
|
|
15
|
0.790 |
0.320 |
18 |
6942110 |
frameshift variant
|
A/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1163944538
|
|
73
|
0.641 |
0.560 |
17 |
75494905 |
frameshift variant
|
-/A
|
delins |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs1352010373
|
|
73
|
0.641 |
0.560 |
17 |
75489265 |
splice acceptor variant
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1567941252
|
|
10
|
0.807 |
0.240 |
17 |
38739601 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1009298200
|
|
34
|
0.742 |
0.400 |
16 |
5079077 |
missense variant
|
C/G;T
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1555452127
|
|
34
|
0.742 |
0.400 |
16 |
5079078 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs199469465
|
|
50
|
0.672 |
0.560 |
16 |
30737343 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs369160589
|
|
35
|
0.742 |
0.400 |
16 |
5082676 |
splice region variant
|
A/G
|
snv |
1.0E-04
|
1.3E-04
|
0.700 |
|
0 |
|
|
rs869312713
|
|
6
|
0.882 |
0.320 |
16 |
89280070 |
stop gained
|
C/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs267606826
|
|
38
|
0.708 |
0.520 |
14 |
28767903 |
stop gained
|
C/A;G;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs780533096
|
|
44
|
0.701 |
0.600 |
13 |
23886338 |
missense variant
|
C/G;T
|
snv |
4.8E-06;
9.6E-06
|
|
0.700 |
|
0 |
|
|
rs797044849
|
|
17
|
0.807 |
0.160 |
12 |
13567164 |
missense variant
|
C/A;G;T
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs878853250
|
|
37
|
0.752 |
0.360 |
12 |
51699663 |
stop gained
|
T/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|