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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.280 | 21 | 37480785 | stop gained | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | X | 20193547 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | 17 | 31340532 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 1 | 102915626 | splice region variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | 16 | 89281225 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 2 | 178577785 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | 11 | 31789935 | stop gained | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 7 | 140753339 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.280 | 7 | 140753337 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 12 | 112473023 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.280 | 12 | 112450416 | missense variant | A/G | 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 | |||||||||||
|
0.790 | 0.160 | 12 | 112489105 | missense variant | A/C;G | snv | 4.0E-06 |
|
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 | ||||||||||||
|
0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.360 | 17 | 46171276 | stop gained | G/A | snv | 5.2E-05 | 5.6E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.240 | 1 | 102912180 | inframe deletion | CCTCACCAGATGGGCCAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 6 | 78958551 | stop gained | G/A | snv |
|
0.700 | 0 |