| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 10 | 87958013 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 4 | 1999 | 2010 | |||||||||
|
0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 4 | 1999 | 2010 | |||||||||
|
1.000 | 0.080 | 10 | 87933236 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 4 | 1999 | 2010 | |||||||||
|
0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
10 | 87931085 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||||
|
0.776 | 0.320 | 17 | 7676037 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.695 | 0.320 | 17 | 7675996 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.677 | 0.400 | 17 | 7675995 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.695 | 0.440 | 17 | 7675218 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.701 | 0.360 | 17 | 7675217 | splice acceptor variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.716 | 0.440 | 17 | 7675216 | splice acceptor variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.240 | 17 | 7675208 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.360 | 17 | 7675191 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
17 | 7675191 | frameshift variant | -/GGTCT | delins |
|
0.700 | 0 | ||||||||||||||
|
0.732 | 0.440 | 17 | 7675190 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.360 | 17 | 7675189 | missense variant | G/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
17 | 7675185 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||||
|
0.776 | 0.240 | 17 | 7675181 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.160 | 17 | 7675180 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.695 | 0.480 | 17 | 7675161 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2016 | |||||||||
|
0.701 | 0.280 | 17 | 7675125 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.360 | 17 | 7675124 | missense variant | T/C | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv |
|
0.710 | 1.000 | 1 | 2016 | 2017 |