rs1057518805
|
|
2
|
|
|
1 |
202596928 |
inframe deletion
|
ATAGTC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1057518957
|
|
4
|
1.000 |
0.040 |
2 |
232535143 |
missense variant
|
G/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057518958
|
|
4
|
1.000 |
0.040 |
2 |
232531353 |
frameshift variant
|
T/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1057518962
|
|
6
|
|
|
X |
32573812 |
stop gained
|
C/A;G;T
|
snv |
5.5E-06;
5.5E-06
|
|
0.700 |
|
0 |
|
|
rs1064795559
|
|
29
|
0.752 |
0.320 |
22 |
30946373 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1064795760
|
|
14
|
0.882 |
0.080 |
9 |
92719007 |
inframe deletion
|
ATT/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1217391623
|
|
11
|
0.882 |
0.160 |
16 |
89556976 |
frameshift variant
|
G/-
|
del |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs121908552
|
|
14
|
0.763 |
0.160 |
17 |
63964587 |
missense variant
|
C/A;G;T
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs121918459
|
|
47
|
0.662 |
0.440 |
12 |
112450368 |
missense variant
|
A/G
|
snv |
1.2E-05
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1256028809
|
|
5
|
1.000 |
|
18 |
70030114 |
splice region variant
|
A/T
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs138977195
|
|
5
|
1.000 |
0.120 |
16 |
56887967 |
missense variant
|
G/A
|
snv |
3.7E-04
|
4.1E-04
|
0.700 |
|
0 |
|
|
rs146539065
|
|
34
|
0.752 |
0.240 |
4 |
25145092 |
synonymous variant
|
C/T
|
snv |
2.8E-05
|
4.2E-05
|
0.700 |
|
0 |
|
|
rs1554699491
|
|
23
|
0.763 |
0.280 |
9 |
85596450 |
splice acceptor variant
|
C/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555206402
|
|
26
|
0.790 |
0.320 |
11 |
119093274 |
stop lost
|
GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555358382
|
|
6
|
|
|
14 |
54844115 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555377415
|
|
18
|
0.827 |
0.200 |
14 |
77027274 |
stop gained
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555420508
|
|
3
|
|
|
15 |
42387891 |
splice region variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555421871
|
|
6
|
0.882 |
0.120 |
15 |
42399617 |
frameshift variant
|
G/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1556425596
|
|
37
|
0.752 |
0.240 |
21 |
45989967 |
intron variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1559931177
|
|
34
|
0.827 |
0.120 |
3 |
49047207 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1566785444
|
|
20
|
0.827 |
0.200 |
14 |
77025671 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1569518070
|
|
33
|
0.752 |
0.480 |
21 |
45989088 |
inframe deletion
|
AAC/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs267607261
|
|
28
|
0.807 |
0.280 |
2 |
27312753 |
stop gained
|
C/T
|
snv |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs28937900
|
|
37
|
0.752 |
0.160 |
19 |
46756276 |
missense variant
|
C/A;T
|
snv |
1.0E-03
|
|
0.700 |
|
0 |
|
|