rs587776973
|
|
3
|
0.925 |
0.040 |
22 |
31815209 |
stop gained
|
C/G;T
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
3 |
2013 |
2015 |
rs776095655
|
|
8
|
0.827 |
0.160 |
1 |
42927684 |
missense variant
|
C/A;T
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
3 |
2011 |
2015 |
rs796052653
|
|
3
|
0.925 |
|
20 |
63413526 |
missense variant
|
C/A;T
|
snv |
|
|
0.700 |
1.000 |
3 |
2013 |
2015 |
rs864309661
|
|
4
|
1.000 |
0.080 |
X |
49077715 |
inframe deletion
|
CCA/-
|
delins |
|
|
0.700 |
1.000 |
3 |
2012 |
2013 |
rs1057524157
|
|
19
|
0.776 |
0.200 |
11 |
686962 |
missense variant
|
A/C;T
|
snv |
|
|
0.700 |
1.000 |
2 |
2017 |
2017 |
rs1064795104
|
|
17
|
0.790 |
0.440 |
2 |
72498492 |
stop gained
|
A/C
|
snv |
|
|
0.700 |
1.000 |
2 |
2013 |
2014 |
rs113994098
|
|
12
|
0.742 |
0.320 |
15 |
89321792 |
missense variant
|
C/T
|
snv |
1.5E-04
|
2.7E-04
|
0.700 |
1.000 |
2 |
2002 |
2011 |
rs1555889162
|
|
6
|
0.882 |
0.040 |
20 |
49374931 |
missense variant
|
G/A;C
|
snv |
|
|
0.700 |
1.000 |
2 |
2017 |
2017 |
rs201257588
|
|
9
|
0.882 |
0.280 |
16 |
2496206 |
stop gained
|
C/G;T
|
snv |
6.0E-05
|
|
0.700 |
1.000 |
2 |
2014 |
2014 |
rs387907144
|
|
34
|
0.716 |
0.600 |
6 |
157181056 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
1.000 |
2 |
2012 |
2015 |
rs398122965
|
|
13
|
0.807 |
0.280 |
16 |
2496872 |
missense variant
|
C/T
|
snv |
1.2E-05
|
2.8E-05
|
0.700 |
1.000 |
2 |
2014 |
2014 |
rs398122966
|
|
9
|
0.882 |
0.280 |
16 |
2496266 |
missense variant
|
C/T
|
snv |
8.0E-06
|
|
0.700 |
1.000 |
2 |
2014 |
2014 |
rs398122967
|
|
12
|
0.827 |
0.280 |
16 |
2498262 |
frameshift variant
|
T/-
|
del |
7.4E-05
|
4.9E-05
|
0.700 |
1.000 |
2 |
2014 |
2014 |
rs398122968
|
|
9
|
0.882 |
0.280 |
16 |
2499425 |
splice region variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
2 |
2014 |
2014 |
rs587777219
|
|
3
|
0.925 |
|
20 |
63442428 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
2 |
2012 |
2015 |
rs587784440
|
|
3
|
0.925 |
0.040 |
9 |
128632261 |
inframe deletion
|
ACCAGCTGG/-;ACCAGCTGGACCAGCTGG
|
delins |
|
|
0.700 |
1.000 |
2 |
2013 |
2015 |
rs747821285
|
|
9
|
0.882 |
0.280 |
16 |
2496476 |
missense variant
|
G/A
|
snv |
4.1E-06
|
|
0.700 |
1.000 |
2 |
2014 |
2014 |
rs760474458
|
|
9
|
0.882 |
0.280 |
16 |
2496267 |
missense variant
|
G/A;C;T
|
snv |
4.0E-06;
2.0E-05;
4.0E-06
|
|
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 |
rs797044548
|
|
9
|
0.882 |
0.280 |
16 |
2498253 |
missense variant
|
G/T
|
snv |
|
|
0.700 |
1.000 |
2 |
2014 |
2014 |
rs869320624
|
|
13
|
0.776 |
0.400 |
1 |
19220814 |
frameshift variant
|
AAGG/-
|
delins |
|
1.4E-05
|
0.700 |
1.000 |
2 |
2016 |
2017 |
rs104894483
|
|
3
|
0.925 |
0.120 |
15 |
68214373 |
stop gained
|
C/A;G;T
|
snv |
6.8E-05;
2.6E-03;
2.0E-05;
4.0E-06
|
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs1057516032
|
|
4
|
1.000 |
|
19 |
41970211 |
protein altering variant
|
AGTCT/GA
|
delins |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057519463
|
|
6
|
0.882 |
0.240 |
15 |
72349160 |
frameshift variant
|
GAACTCAT/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1057519467
|
|
5
|
0.925 |
0.160 |
15 |
72345540 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |