| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.280 | 22 | 28695219 | missense variant | G/A | snv | 4.9E-04 | 2.6E-04 |
|
0.700 | 1.000 | 7 | 2005 | 2016 | |||||||
|
0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 43091891 | stop gained | C/A;T | snv | 9.9E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.240 | 16 | 23629986 | frameshift variant | AT/- | del | 6.4E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.763 | 0.320 | 11 | 108329202 | missense variant | T/G | snv | 4.0E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 22 | 28695786 | missense variant | C/A;G;T | snv | 2.8E-05; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.807 | 0.200 | 17 | 43063903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 13 | 32356550 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.240 | 13 | 32340000 | stop gained | C/A;G | snv | 1.6E-05 |
|
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 | ||||||||
|
0.677 | 0.480 | 17 | 7675089 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.280 | 17 | 7673782 | missense variant | T/C;G | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 17 | 43092274 | stop gained | A/C;G;T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.710 | 1.000 | 0 | 2013 | 2013 | ||||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 17 | 43045767 | stop gained | G/A | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.320 | 13 | 32394814 | stop gained | C/T | snv | 1.2E-05 | 4.2E-05 |
|
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 | ||||||||
|
1.000 | 0.080 | 17 | 39725363 | missense variant | C/G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 2 | 2006 | 2013 | ||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 3 | 1998 | 2016 | ||||||||
|
0.827 | 0.200 | 17 | 43057078 | stop gained | G/A;C;T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
15 | 28272372 | missense variant | G/A;C | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |