| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 32316454 | start lost | TAAAAATGCCTATTGG/- | delins |
|
0.700 | 0 | ||||||||||||||
|
16 | 23614062 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||||
|
16 | 23635903 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||||
|
17 | 7675191 | frameshift variant | -/GGTCT | delins |
|
0.700 | 0 | ||||||||||||||
|
17 | 7675185 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.740 | 1.000 | 10 | 2004 | 2016 | ||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.700 | 1.000 | 3 | 1998 | 2016 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.710 | 1.000 | 12 | 2004 | 2016 | ||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 2 | 2014 | 2017 | |||||||||
|
0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 3 | 1998 | 2016 | ||||||||
|
0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 12 | 2004 | 2016 | |||||||||
|
0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2006 | 2016 | ||||||||
|
0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv |
|
0.700 | 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 | ||||||||
|
0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.710 | 1.000 | 0 | 2013 | 2013 | ||||||||
|
0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 10 | 2004 | 2016 |