| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.280 | 13 | 39699477 | intron variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 14 | 21393500 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 4 | 2012 | 2016 | ||||||||||
|
0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
1.000 | 0.240 | 10 | 92606655 | stop gained | C/T | snv |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
0.882 | 0.280 | 16 | 2496206 | stop gained | C/G;T | snv | 6.0E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.851 | 0.160 | 3 | 196707860 | stop gained | -/T | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 7 | 44284206 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.882 | 0.120 | 17 | 67975933 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 6 | 110100644 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
6 | 110101594 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.925 | 0.080 | 2 | 218643341 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 21 | 37478285 | stop gained | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 21 | 37505442 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 0.120 | 19 | 7526579 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 2 | 165373339 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.320 | 10 | 87933175 | stop gained | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | 16 | 89281225 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 1 | 244856757 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 12 | 115982386 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 244053916 | stop gained | C/G;T | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.080 | X | 120544179 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv |
|
0.700 | 0 |