rs61752992
|
|
9
|
0.807 |
0.120 |
X |
154030621 |
splice acceptor variant
|
TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1569355102
|
|
51
|
0.695 |
0.360 |
21 |
37472869 |
frameshift variant
|
TAAC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1554121872
|
|
7
|
0.882 |
0.040 |
5 |
150250270 |
missense variant
|
T/G
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1554121875
|
|
7
|
0.882 |
0.040 |
5 |
150250281 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs587782995
|
|
42
|
0.708 |
0.360 |
5 |
140114480 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs751889864
|
|
5
|
0.925 |
0.120 |
9 |
110785664 |
missense variant
|
T/A;C
|
snv |
4.0E-06;
1.6E-05
|
|
0.700 |
|
0 |
|
|
rs1554122129
|
|
6
|
0.882 |
0.040 |
5 |
150252032 |
missense variant
|
T/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs878854378
|
|
33
|
0.742 |
0.320 |
2 |
178533657 |
inframe deletion
|
GTT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555454508
|
|
18
|
0.790 |
0.240 |
15 |
44615487 |
stop gained
|
GTA/ATC
|
mnv |
|
|
0.700 |
|
0 |
|
|
rs80358263
|
|
7
|
0.827 |
0.280 |
14 |
74486378 |
stop gained
|
G/T
|
snv |
8.4E-06
|
|
0.700 |
|
0 |
|
|
rs1554893835
|
|
8
|
0.827 |
0.240 |
10 |
87894110 |
splice donor variant
|
G/C;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs587777893
|
|
67
|
0.658 |
0.240 |
1 |
11128107 |
missense variant
|
G/A;T
|
snv |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs926027867
|
|
12
|
0.882 |
0.040 |
5 |
150251808 |
missense variant
|
G/A;T
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs387907329
|
|
10
|
0.827 |
0.200 |
X |
49075573 |
stop gained
|
G/A;T
|
snv |
5.5E-06
|
|
0.700 |
|
0 |
|
|
rs543860009
|
|
33
|
0.742 |
0.320 |
2 |
178589003 |
stop gained
|
G/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057521721
|
|
5
|
0.851 |
0.200 |
X |
123428020 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1554389088
|
|
27
|
0.807 |
0.160 |
7 |
44243526 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1554904159
|
|
11
|
0.851 |
0.160 |
11 |
1442607 |
splice donor variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1057518940
|
|
4
|
0.925 |
0.040 |
19 |
38499718 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057518966
|
|
4
|
1.000 |
0.040 |
9 |
110800743 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs121909218
|
|
25
|
0.672 |
0.360 |
10 |
87933145 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs267606740
|
|
2
|
0.925 |
0.040 |
16 |
70481397 |
missense variant
|
G/A
|
snv |
2.4E-05
|
1.4E-05
|
0.700 |
|
0 |
|
|
rs587784177
|
|
20
|
0.790 |
0.280 |
5 |
177283827 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs912001256
|
|
17
|
0.851 |
0.240 |
17 |
63947062 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|