| 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 | |||||||
|
0.807 | 0.280 | 13 | 32340301 | frameshift variant | T/- | del | 1.8E-04 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.320 | 11 | 108329202 | missense variant | T/G | snv | 4.0E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.763 | 0.320 | 13 | 32394814 | stop gained | C/T | snv | 1.2E-05 | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.240 | 16 | 23629986 | frameshift variant | AT/- | del | 6.4E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 13 | 32337161 | frameshift variant | ACAA/- | delins | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.200 | 13 | 32356550 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 13 | 32340757 | frameshift variant | CTTAA/- | delins | 4.2E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.724 | 0.360 | 17 | 7675124 | missense variant | T/C | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 17 | 43067649 | stop gained | GTTA/-;GTTAGTTA | delins | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.200 | 17 | 43047666 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 17 | 43045793 | splice acceptor variant | CCAATTGC/-;CCAATTGCCCAATTGC | delins |
|
0.700 | 1.000 | 13 | 1976 | 2016 | |||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.710 | 1.000 | 12 | 2004 | 2016 | ||||||||
|
0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 12 | 2004 | 2016 | |||||||||
|
0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 10 | 2004 | 2016 | |||||||||
|
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 | ||||||||
|
0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv |
|
0.700 | 1.000 | 9 | 2004 | 2016 | |||||||||
|
0.732 | 0.240 | 3 | 179218307 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 9 | 2004 | 2016 | |||||||||
|
3 | 179218315 | missense variant | G/A | snv |
|
0.700 | 1.000 | 8 | 2004 | 2012 | |||||||||||
|
0.776 | 0.200 | 17 | 39723967 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 5 | 2008 | 2016 | |||||||||
|
1.000 | 0.080 | 10 | 87933236 | missense variant | G/A;T | snv |
|
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 | 87958013 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 4 | 1999 | 2010 |