rs137853305
|
|
7
|
0.851 |
0.120 |
9 |
35685529 |
missense variant
|
G/A
|
snv |
|
|
0.030 |
1.000 |
3 |
2007 |
2010 |
rs137853306
|
|
6
|
0.882 |
0.080 |
9 |
35689265 |
missense variant
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs138977195
|
|
5
|
1.000 |
0.120 |
16 |
56887967 |
missense variant
|
G/A
|
snv |
3.7E-04
|
4.1E-04
|
0.700 |
|
0 |
|
|
rs1405183655
|
|
2
|
|
|
16 |
74719132 |
missense variant
|
C/G;T
|
snv |
4.0E-06
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs142000963
|
|
8
|
0.807 |
0.240 |
1 |
156138719 |
missense variant
|
C/A;T
|
snv |
1.2E-03
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs146539065
|
|
34
|
0.752 |
0.240 |
4 |
25145092 |
synonymous variant
|
C/T
|
snv |
2.8E-05
|
4.2E-05
|
0.700 |
|
0 |
|
|
rs151344517
|
|
31
|
0.742 |
0.320 |
18 |
12337505 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
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 |
|
|
rs1556424691
|
|
13
|
0.851 |
0.200 |
MT |
15923 |
non coding transcript exon variant
|
A/G
|
snv |
|
|
0.700 |
1.000 |
4 |
1993 |
2018 |
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 |
|
|
rs1562846694
|
|
32
|
0.763 |
0.320 |
7 |
100643252 |
inframe deletion
|
TTCGCTCCACGCACT/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
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 |
|
|
rs1805123
|
|
18
|
0.724 |
0.280 |
7 |
150948446 |
missense variant
|
T/A;C;G
|
snv |
1.3E-05;
0.18;
8.4E-06
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs199474714
|
|
4
|
0.925 |
0.080 |
1 |
154173113 |
missense variant
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs201573646
|
|
2
|
|
|
6 |
43640526 |
missense variant
|
G/A
|
snv |
1.0E-04
|
1.4E-05
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs267607261
|
|
28
|
0.807 |
0.280 |
2 |
27312753 |
stop gained
|
C/T
|
snv |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs28933979
|
|
70
|
0.587 |
0.600 |
18 |
31592974 |
missense variant
|
G/A;C
|
snv |
1.0E-04
|
|
0.010 |
1.000 |
1 |
2005 |
2005 |