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 |
|
|
rs1276519904
|
|
63
|
0.645 |
0.520 |
1 |
226071445 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs587777893
|
|
67
|
0.658 |
0.240 |
1 |
11128107 |
missense variant
|
G/A;T
|
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 |
|
|
rs199469465
|
|
50
|
0.672 |
0.560 |
16 |
30737343 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1178187217
|
|
38
|
0.683 |
0.480 |
7 |
21600085 |
missense variant
|
G/A;T
|
snv |
4.3E-06
|
|
0.700 |
|
0 |
|
|
rs201943194
|
|
38
|
0.683 |
0.480 |
7 |
21710596 |
stop gained
|
C/T
|
snv |
8.5E-05
|
8.4E-05
|
0.700 |
|
0 |
|
|
rs1557043622
|
|
46
|
0.695 |
0.400 |
X |
48909843 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
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 |
|
|
rs780533096
|
|
44
|
0.701 |
0.600 |
13 |
23886338 |
missense variant
|
C/G;T
|
snv |
4.8E-06;
9.6E-06
|
|
0.700 |
|
0 |
|
|
rs1563183492
|
|
32
|
0.708 |
0.520 |
7 |
70766248 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs267606826
|
|
38
|
0.708 |
0.520 |
14 |
28767903 |
stop gained
|
C/A;G;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1060505041
|
|
34
|
0.716 |
0.400 |
19 |
13136099 |
missense variant
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1553770577
|
|
37
|
0.724 |
0.480 |
3 |
132675342 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs875989800
|
|
33
|
0.732 |
0.480 |
22 |
23833670 |
inframe deletion
|
AGA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs151344517
|
|
31
|
0.742 |
0.320 |
18 |
12337505 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
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 |
|
|
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 |
|
|
rs1562127631
|
|
24
|
0.742 |
0.360 |
6 |
78961751 |
frameshift variant
|
C/-
|
del |
|
|
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 |
|
|
rs559979281
|
|
23
|
0.742 |
0.440 |
2 |
121530892 |
non coding transcript exon variant
|
C/G;T
|
snv |
7.7E-06;
2.3E-05;
3.5E-04
|
|
0.700 |
|
0 |
|
|