rs770374710
|
|
87
|
0.611 |
0.560 |
15 |
23645747 |
frameshift variant
|
G/-;GG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1276519904
|
|
63
|
0.645 |
0.520 |
1 |
226071445 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs779027563
|
|
58
|
0.677 |
0.360 |
17 |
42687838 |
missense variant
|
G/C
|
snv |
4.0E-06
|
7.0E-06
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1553621496
|
|
53
|
0.677 |
0.440 |
2 |
209976305 |
splice donor variant
|
T/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs61750420
|
|
46
|
0.689 |
0.480 |
7 |
92501562 |
missense variant
|
C/T
|
snv |
3.2E-04
|
3.5E-04
|
0.700 |
|
0 |
|
|
rs1569355102
|
|
51
|
0.695 |
0.360 |
21 |
37472869 |
frameshift variant
|
TAAC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555743003
|
|
58
|
0.701 |
0.520 |
18 |
33740444 |
splice donor variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1364709483
|
|
36
|
0.701 |
0.360 |
17 |
61400235 |
missense variant
|
G/A
|
snv |
|
6.5E-05
|
0.700 |
|
0 |
|
|
rs1560755661
|
|
44
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant
|
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs867410737
|
|
42
|
0.708 |
0.440 |
19 |
1242559 |
missense variant
|
C/T
|
snv |
6.7E-06
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1563183492
|
|
32
|
0.708 |
0.520 |
7 |
70766248 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs200661329
|
|
48
|
0.708 |
0.440 |
16 |
576255 |
splice donor variant
|
G/A;C
|
snv |
5.7E-05
|
|
0.700 |
|
0 |
|
|
rs387907144
|
|
34
|
0.716 |
0.600 |
6 |
157181056 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
1.000 |
2 |
2012 |
2015 |
rs1034395178
|
|
33
|
0.716 |
0.480 |
22 |
20996071 |
stop gained
|
C/A;T
|
snv |
4.0E-06;
8.0E-06
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1060505041
|
|
34
|
0.716 |
0.400 |
19 |
13136099 |
missense variant
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs137854539
|
|
27
|
0.716 |
0.520 |
20 |
58903703 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs796052505
|
|
57
|
0.724 |
0.440 |
5 |
162095551 |
missense variant
|
G/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555575860
|
|
31
|
0.732 |
0.240 |
16 |
70496367 |
missense variant
|
C/G;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1009298200
|
|
34
|
0.742 |
0.400 |
16 |
5079077 |
missense variant
|
C/G;T
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1057518345
|
|
25
|
0.742 |
0.400 |
20 |
50894172 |
frameshift variant
|
ACTA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs137854889
|
|
31
|
0.742 |
0.440 |
1 |
40290871 |
frameshift variant
|
T/-;TT
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555452127
|
|
34
|
0.742 |
0.400 |
16 |
5079078 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1557781252
|
|
33
|
0.742 |
0.320 |
1 |
153816414 |
stop gained
|
G/A
|
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 |
|
|