rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553770577
|
|
37
|
0.724 |
0.480 |
3 |
132675342 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555452127
|
|
34
|
0.742 |
0.400 |
16 |
5079078 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs878853250
|
|
37
|
0.752 |
0.360 |
12 |
51699663 |
stop gained
|
T/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1563686762
|
|
16
|
0.790 |
0.280 |
8 |
116847620 |
inframe deletion
|
GTT/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1554781700
|
|
12
|
0.851 |
0.240 |
9 |
134701287 |
missense variant
|
G/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057518914
|
|
14
|
0.790 |
0.160 |
X |
20193547 |
missense variant
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1352010373
|
|
73
|
0.641 |
0.560 |
17 |
75489265 |
splice acceptor variant
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs114925667
|
|
64
|
0.672 |
0.520 |
3 |
132675903 |
missense variant
|
G/A;T
|
snv |
1.9E-03;
4.1E-06
|
|
0.700 |
|
0 |
|
|
rs1178187217
|
|
38
|
0.683 |
0.480 |
7 |
21600085 |
missense variant
|
G/A;T
|
snv |
4.3E-06
|
|
0.700 |
|
0 |
|
|
rs397515415
|
|
10
|
0.807 |
0.240 |
X |
72495216 |
stop gained
|
G/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs587777893
|
|
67
|
0.658 |
0.240 |
1 |
11128107 |
missense variant
|
G/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs751093906
|
|
8
|
0.882 |
0.200 |
8 |
42472255 |
stop gained
|
G/A;C
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs140119177
|
|
7
|
0.851 |
0.160 |
9 |
93447639 |
missense variant
|
G/A
|
snv |
6.8E-05
|
2.2E-04
|
0.700 |
|
0 |
|
|
rs1554504663
|
|
11
|
0.851 |
0.080 |
8 |
23007627 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1557781252
|
|
33
|
0.742 |
0.320 |
1 |
153816414 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1567941252
|
|
10
|
0.807 |
0.240 |
17 |
38739601 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs863225422
|
|
23
|
0.742 |
0.440 |
2 |
121530927 |
non coding transcript exon variant
|
G/A
|
snv |
4.6E-05;
7.7E-06
|
4.9E-05
|
0.700 |
|
0 |
|
|
rs771237928
|
|
14
|
0.752 |
0.280 |
1 |
119915813 |
frameshift variant
|
G/-;GG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1562150844
|
|
14
|
0.790 |
0.280 |
6 |
78982908 |
frameshift variant
|
CTTT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
|
44
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant
|
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1057519565
|
|
9
|
0.851 |
0.200 |
11 |
687941 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1114167445
|
|
15
|
0.851 |
0.160 |
19 |
40504064 |
stop gained
|
C/T
|
snv |
8.0E-06
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs151344517
|
|
31
|
0.742 |
0.320 |
18 |
12337505 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1344172059
|
|
12
|
0.882 |
0.080 |
11 |
17430838 |
missense variant
|
C/T
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|