rs1566433812
|
|
1
|
|
|
14 |
22768050 |
frameshift variant
|
-/CAGAGCAG
|
delins |
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs797046003
|
|
2
|
1.000 |
0.080 |
16 |
89529575 |
splice donor variant
|
-/T
|
delins |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs775256289
|
|
1
|
|
|
12 |
32750046 |
inframe insertion
|
-/TGATCAGACATGACCTCC
|
delins |
1.6E-05
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs515726199
|
|
2
|
1.000 |
0.200 |
8 |
102208239 |
frameshift variant
|
A/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs886037835
|
|
2
|
1.000 |
|
11 |
85635669 |
frameshift variant
|
A/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs763006208
|
|
2
|
1.000 |
|
22 |
42086261 |
frameshift variant
|
A/-
|
delins |
|
1.1E-04
|
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 |
rs143319805
|
|
12
|
0.807 |
0.320 |
3 |
193643378 |
missense variant
|
A/G
|
snv |
6.2E-04
|
5.7E-04
|
0.020 |
1.000 |
2 |
2017 |
2020 |
rs199474657
|
|
15
|
0.752 |
0.360 |
MT |
3243 |
non coding transcript exon variant
|
A/G
|
snv |
|
|
0.700 |
1.000 |
2 |
2001 |
2004 |
rs28937590
|
|
8
|
0.807 |
0.360 |
2 |
218661219 |
missense variant
|
A/G
|
snv |
4.7E-04
|
4.1E-04
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs387906899
|
|
2
|
1.000 |
|
3 |
193643609 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs875989831
|
|
2
|
1.000 |
|
3 |
101565595 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs118192098
|
|
5
|
0.851 |
0.200 |
MT |
8344 |
non coding transcript exon variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs2853493
|
|
1
|
|
|
MT |
11467 |
synonymous variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs369227537
|
|
2
|
1.000 |
0.080 |
16 |
89550502 |
stop gained
|
A/T
|
snv |
1.4E-04
|
9.8E-05
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs863224028
|
|
1
|
|
|
16 |
1984415 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1554887028
|
|
1
|
|
|
10 |
100989213 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs398124298
|
|
3
|
0.925 |
0.160 |
3 |
193647110 |
missense variant
|
C/A;G
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs886037773
|
|
1
|
|
|
6 |
151405719 |
splice donor variant
|
C/A;G
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs752169833
|
|
3
|
0.925 |
0.040 |
7 |
56102878 |
missense variant
|
C/A;T
|
snv |
8.0E-06;
5.6E-05
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs758833609
|
|
2
|
1.000 |
|
22 |
42086305 |
stop gained
|
C/A;T
|
snv |
8.0E-06;
4.4E-05
|
|
0.700 |
|
0 |
|
|
rs113994097
|
|
22
|
0.724 |
0.400 |
15 |
89323426 |
missense variant
|
C/G
|
snv |
9.7E-04
|
7.9E-04
|
0.720 |
1.000 |
3 |
2006 |
2017 |
rs886041082
|
|
2
|
1.000 |
|
4 |
185145863 |
missense variant
|
C/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1003624852
|
|
1
|
|
|
8 |
144096675 |
missense variant
|
C/G;T
|
snv |
4.0E-06;
8.0E-06
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs115079861
|
|
3
|
1.000 |
|
6 |
151405236 |
stop lost
|
C/G;T
|
snv |
2.0E-05;
4.0E-03
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |