| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.040 | 15 | 75411651 | frameshift variant | -/T | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
0.700 | 0 | ||||||||||||
|
X | 108595507 | coding sequence variant | AAGGTGACA/- | delins |
|
0.700 | 0 | ||||||||||||||
|
0.742 | 0.240 | 15 | 48495502 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.200 | 20 | 19992201 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 4 | 2002 | 2009 | |||||||||
|
0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2006 | 2006 | |||||||||
|
0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2007 | 2007 | ||||||||
|
0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.200 | 6 | 33441318 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 12 | 112486482 | missense variant | C/A;T | snv | 8.0E-06; 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 2 | 39051202 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.400 | 1 | 92833544 | splice acceptor variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.280 | 6 | 33438873 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 6 | 78958551 | stop gained | G/A | snv |
|
0.700 | 0 |