rs1057519745
|
|
1
|
1.000 |
0.040 |
11 |
32396363 |
frameshift variant
|
-/ACCGTACA
|
ins |
|
|
0.700 |
1.000 |
6 |
2014 |
2014 |
rs1131691014
|
|
214
|
0.439 |
0.800 |
17 |
7676154 |
frameshift variant
|
-/C
|
ins |
|
|
0.020 |
< 0.001 |
2 |
2012 |
2016 |
rs137852732
|
|
1
|
1.000 |
0.040 |
19 |
33302095 |
frameshift variant
|
-/CA
|
delins |
|
|
0.700 |
|
0 |
|
|
rs762890562
|
|
2
|
0.925 |
0.040 |
5 |
177515944 |
stop gained
|
-/CATC
|
delins |
8.7E-05
|
7.0E-05
|
0.700 |
|
0 |
|
|
rs1057519744
|
|
1
|
1.000 |
0.040 |
5 |
171410542 |
frameshift variant
|
-/CATG;CCTG;TCAG;TCTG
|
ins |
|
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs1554138188
|
|
1
|
1.000 |
0.040 |
5 |
171410541 |
frameshift variant
|
-/CATG;CGTG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs606231202
|
|
1
|
1.000 |
0.040 |
12 |
25245355 |
inframe insertion
|
-/CCA
|
delins |
|
|
0.700 |
|
0 |
|
|
rs587776849
|
|
1
|
1.000 |
0.040 |
19 |
33302200 |
frameshift variant
|
-/CCGG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1554138189
|
|
1
|
1.000 |
0.040 |
5 |
171410540 |
frameshift variant
|
-/CCTG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1178981336
|
|
2
|
1.000 |
0.040 |
9 |
113424228 |
frameshift variant
|
-/G
|
delins |
|
7.0E-06
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs137852733
|
|
1
|
1.000 |
0.040 |
19 |
33302197 |
frameshift variant
|
-/G
|
ins |
|
|
0.700 |
|
0 |
|
|
rs1555742295
|
|
1
|
1.000 |
0.040 |
19 |
33302295 |
frameshift variant
|
-/G
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555741967
|
|
1
|
1.000 |
0.040 |
19 |
33301463 |
inframe insertion
|
-/GCTCCAGCACCTTCTGCTGCGTCTCCA
|
delins |
|
|
0.700 |
|
0 |
|
|
rs587776710
|
|
1
|
1.000 |
0.040 |
12 |
11890994 |
protein altering variant
|
-/GGG
|
ins |
|
|
0.700 |
|
0 |
|
|
rs137852731
|
|
1
|
1.000 |
0.040 |
19 |
33302213 |
frameshift variant
|
-/TAGG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs398122514
|
|
1
|
1.000 |
0.040 |
13 |
28018487 |
inframe insertion
|
-/TCCGGA
|
delins |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs587776806
|
|
1
|
1.000 |
0.040 |
5 |
171410539 |
frameshift variant
|
-/TCTG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555741948
|
|
1
|
1.000 |
0.040 |
19 |
33301423 |
inframe insertion
|
-/TTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1562206791
|
|
2
|
0.925 |
0.080 |
5 |
177210250 |
frameshift variant
|
A/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs2072671
|
|
16
|
0.752 |
0.280 |
1 |
20589208 |
missense variant
|
A/C
|
snv |
0.28
|
0.25
|
0.030 |
1.000 |
3 |
2009 |
2015 |
rs10062083
|
|
1
|
1.000 |
0.040 |
5 |
9130861 |
intron variant
|
A/C
|
snv |
|
0.11
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs10063061
|
|
1
|
1.000 |
0.040 |
5 |
126608051 |
intron variant
|
A/C
|
snv |
|
0.26
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs10092799
|
|
1
|
1.000 |
0.040 |
8 |
13757626 |
intergenic variant
|
A/C
|
snv |
|
8.3E-02
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs10094221
|
|
1
|
1.000 |
0.040 |
8 |
93155425 |
intron variant
|
A/C
|
snv |
|
0.36
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs10166710
|
|
1
|
1.000 |
0.040 |
2 |
187684313 |
regulatory region variant
|
A/C
|
snv |
|
4.7E-02
|
0.700 |
1.000 |
1 |
2017 |
2017 |