rs1024611
|
|
63
|
0.568 |
0.800 |
17 |
34252769 |
upstream gene variant
|
A/G
|
snv |
|
0.28
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs16944
|
|
92
|
0.531 |
0.920 |
2 |
112837290 |
upstream gene variant
|
A/G
|
snv |
|
0.57
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs1800629
|
|
169
|
0.472 |
0.920 |
6 |
31575254 |
upstream gene variant
|
G/A
|
snv |
0.12
|
0.14
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs768823392
|
|
10
|
0.827 |
0.120 |
16 |
89546657 |
coding sequence variant
|
GGCGGGAGA/-
|
delins |
2.6E-04
|
4.2E-04
|
0.700 |
|
0 |
|
|
rs1568925507
|
|
5
|
1.000 |
|
20 |
63438654 |
inframe insertion
|
-/TCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1057516032
|
|
4
|
1.000 |
|
19 |
41970211 |
protein altering variant
|
AGTCT/GA
|
delins |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs869312699
|
|
4
|
0.925 |
0.160 |
11 |
120986102 |
protein altering variant
|
CTGGCGCAGGAGGCC/GCT
|
delins |
|
|
0.700 |
|
0 |
|
|
rs864309661
|
|
4
|
1.000 |
0.080 |
X |
49077715 |
inframe deletion
|
CCA/-
|
delins |
|
|
0.700 |
1.000 |
3 |
2012 |
2013 |
rs587784440
|
|
3
|
0.925 |
0.040 |
9 |
128632261 |
inframe deletion
|
ACCAGCTGG/-;ACCAGCTGGACCAGCTGG
|
delins |
|
|
0.700 |
1.000 |
2 |
2013 |
2015 |
rs1554943158
|
|
6
|
0.882 |
0.040 |
11 |
681045 |
inframe deletion
|
CTT/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1562846694
|
|
32
|
0.763 |
0.320 |
7 |
100643252 |
inframe deletion
|
TTCGCTCCACGCACT/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs878853282
|
|
4
|
1.000 |
|
9 |
109141466 |
inframe deletion
|
CCT/-
|
delins |
2.0E-05
|
2.7E-04
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1064795760
|
|
14
|
0.882 |
0.080 |
9 |
92719007 |
inframe deletion
|
ATT/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs118192212
|
|
6
|
0.925 |
0.040 |
20 |
63439610 |
inframe deletion
|
AAG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553548194
|
|
3
|
1.000 |
0.080 |
2 |
166048938 |
inframe deletion
|
AAT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs587782991
|
|
6
|
0.882 |
0.080 |
5 |
140114991 |
inframe deletion
|
TCT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs587783000
|
|
5
|
0.925 |
0.080 |
5 |
140114444 |
inframe deletion
|
TCG/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs746200792
|
|
8
|
0.925 |
0.120 |
1 |
43437254 |
inframe deletion
|
TGT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs796052243
|
|
54
|
0.695 |
0.520 |
4 |
122934574 |
inframe deletion
|
CAA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs875989800
|
|
33
|
0.732 |
0.480 |
22 |
23833670 |
inframe deletion
|
AGA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1060499740
|
|
3
|
|
|
14 |
102348559 |
stop lost
|
A/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555206402
|
|
26
|
0.790 |
0.320 |
11 |
119093274 |
stop lost
|
GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs869312825
|
|
11
|
0.827 |
0.120 |
1 |
1804548 |
start lost
|
T/C
|
snv |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs398122968
|
|
9
|
0.882 |
0.280 |
16 |
2499425 |
splice region variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
2 |
2014 |
2014 |
rs778573169
|
|
2
|
1.000 |
0.080 |
15 |
89319225 |
splice region variant
|
T/A;C
|
snv |
4.0E-05
|
|
0.700 |
1.000 |
2 |
2011 |
2013 |