rs28933385
|
|
25
|
0.695 |
0.320 |
20 |
4699818 |
missense variant
|
G/A
|
snv |
4.0E-06
|
|
0.800 |
0.944 |
18 |
1995 |
2019 |
rs74315401
|
|
32
|
0.683 |
0.320 |
20 |
4699525 |
missense variant
|
C/T
|
snv |
|
|
0.800 |
1.000 |
15 |
1999 |
2019 |
rs74315403
|
|
10
|
0.790 |
0.200 |
20 |
4699752 |
missense variant
|
G/A
|
snv |
|
|
0.800 |
1.000 |
14 |
2002 |
2019 |
rs74315402
|
|
7
|
0.882 |
0.200 |
20 |
4699570 |
missense variant
|
C/T
|
snv |
|
|
0.750 |
1.000 |
5 |
1999 |
2014 |
rs267606980
|
|
2
|
1.000 |
0.080 |
20 |
4699600 |
missense variant
|
G/T
|
snv |
4.0E-06
|
|
0.030 |
1.000 |
3 |
2017 |
2020 |
rs80356710
|
|
3
|
0.925 |
0.040 |
20 |
4699655 |
stop gained
|
T/G
|
snv |
|
|
0.730 |
1.000 |
3 |
2011 |
2019 |
rs11538758
|
|
8
|
0.882 |
0.160 |
20 |
4699534 |
missense variant
|
C/A;T
|
snv |
|
|
0.720 |
1.000 |
2 |
1993 |
1999 |
rs372878791
|
|
2
|
1.000 |
0.120 |
20 |
4699783 |
missense variant
|
C/G;T
|
snv |
3.2E-05;
4.0E-05
|
|
0.020 |
1.000 |
2 |
2002 |
2010 |
rs74315405
|
|
6
|
0.827 |
0.160 |
20 |
4699813 |
missense variant
|
T/C
|
snv |
|
|
0.720 |
0.500 |
2 |
1996 |
2016 |
rs74315413
|
|
8
|
0.807 |
0.160 |
20 |
4699780 |
missense variant
|
A/G
|
snv |
|
|
0.720 |
1.000 |
2 |
2000 |
2010 |
rs74315414
|
|
5
|
0.882 |
0.200 |
20 |
4699533 |
missense variant
|
C/A;T
|
snv |
4.0E-06
|
|
0.720 |
1.000 |
2 |
2008 |
2011 |
rs2756271
|
|
1
|
|
|
20 |
4684616 |
intron variant
|
A/G;T
|
snv |
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs398122370
|
|
4
|
0.925 |
0.160 |
20 |
4699851 |
missense variant
|
G/C
|
snv |
|
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs398122414
|
|
3
|
0.925 |
0.120 |
20 |
4699898 |
stop gained
|
C/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs74315410
|
|
2
|
1.000 |
0.120 |
20 |
4699612 |
missense variant
|
G/T
|
snv |
4.0E-06
|
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs74315411
|
|
4
|
0.882 |
0.160 |
20 |
4699767 |
missense variant
|
A/G
|
snv |
|
|
0.710 |
1.000 |
1 |
2004 |
2004 |
rs747500244
|
|
1
|
|
|
20 |
4699797 |
missense variant
|
A/G
|
snv |
1.2E-05
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs768562045
|
|
1
|
|
|
20 |
4699821 |
missense variant
|
A/T
|
snv |
4.0E-06
|
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs775144659
|
|
1
|
|
|
20 |
4699816 |
missense variant
|
C/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs193922906
|
|
4
|
0.882 |
0.160 |
20 |
4699380 |
inframe insertion
|
TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs74315406
|
|
5
|
0.851 |
0.160 |
20 |
4699870 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs80356711
|
|
4
|
1.000 |
|
20 |
4699698 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1292160648
|
|
1
|
|
|
20 |
4699738 |
missense variant
|
A/G
|
snv |
4.0E-06
|
7.0E-06
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs761807915
|
|
4
|
0.925 |
0.120 |
20 |
4699824 |
missense variant
|
G/A
|
snv |
4.0E-06
|
7.0E-06
|
0.020 |
1.000 |
2 |
2007 |
2011 |
rs74315409
|
|
13
|
0.742 |
0.240 |
20 |
4699915 |
missense variant
|
T/G
|
snv |
6.0E-05
|
2.1E-05
|
0.730 |
1.000 |
3 |
2010 |
2013 |