rs776095655
|
|
8
|
0.827 |
0.160 |
1 |
42927684 |
missense variant
|
C/A;T
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
3 |
2011 |
2015 |
rs387907144
|
|
34
|
0.716 |
0.600 |
6 |
157181056 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
1.000 |
2 |
2012 |
2015 |
rs1064793829
|
|
5
|
0.882 |
0.160 |
1 |
153816571 |
frameshift variant
|
A/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1557043622
|
|
46
|
0.695 |
0.400 |
X |
48909843 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs2244352
|
|
3
|
0.925 |
0.080 |
21 |
39386047 |
intron variant
|
T/A;G
|
snv |
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1057518345
|
|
25
|
0.742 |
0.400 |
20 |
50894172 |
frameshift variant
|
ACTA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1057519389
|
|
46
|
0.695 |
0.400 |
10 |
129957324 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1085307993
|
|
53
|
0.716 |
0.440 |
5 |
161331056 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1114167291
|
|
10
|
0.790 |
0.280 |
16 |
89281225 |
stop gained
|
C/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1135401746
|
|
7
|
0.827 |
0.400 |
1 |
1806512 |
missense variant
|
C/G
|
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 |
|
|
rs142239530
|
|
24
|
0.790 |
0.320 |
11 |
4091328 |
missense variant
|
C/G;T
|
snv |
4.4E-05
|
|
0.700 |
|
0 |
|
|
rs1448259271
|
|
23
|
0.790 |
0.240 |
14 |
77027279 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1553621496
|
|
53
|
0.677 |
0.440 |
2 |
209976305 |
splice donor variant
|
T/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1554110735
|
|
13
|
0.776 |
0.200 |
6 |
10398693 |
frameshift variant
|
TT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555741826
|
|
16
|
0.776 |
0.280 |
19 |
49601646 |
frameshift variant
|
TGCC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1559470315
|
|
26
|
0.732 |
0.320 |
3 |
41227287 |
protein altering variant
|
CCACAAGCAG/T
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
|
44
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant
|
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1563183492
|
|
32
|
0.708 |
0.520 |
7 |
70766248 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1568359734
|
|
8
|
0.827 |
0.240 |
18 |
33738903 |
frameshift variant
|
A/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1569525894
|
|
14
|
0.790 |
0.280 |
X |
136040055 |
frameshift variant
|
TCTTCCTTAACCACCGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs202160208
|
|
9
|
0.827 |
0.160 |
3 |
49722056 |
missense variant
|
C/T
|
snv |
2.9E-04
|
1.8E-04
|
0.700 |
|
0 |
|
|
rs267606826
|
|
38
|
0.708 |
0.520 |
14 |
28767903 |
stop gained
|
C/A;G;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs28936415
|
|
22
|
0.752 |
0.320 |
16 |
8811153 |
missense variant
|
G/A
|
snv |
4.1E-03
|
3.7E-03
|
0.700 |
|
0 |
|
|