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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 1 | 102912180 | inframe deletion | CCTCACCAGATGGGCCAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 1 | 102915626 | splice region variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.807 | 0.240 | 12 | 112450359 | missense variant | G/C;T | 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 | ||||||||||||
|
0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 12 | 112473023 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2001 | 2006 | |||||||
|
0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;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 | |||||||||||
|
0.851 | 0.160 | 12 | 112489047 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 12 | 112489048 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 12 | 112489086 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.240 | 12 | 112489104 | missense variant | C/A;G | snv |
|
0.700 | 1.000 | 2 | 2005 | 2006 | |||||||||
|
0.790 | 0.160 | 12 | 112489105 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.280 | 7 | 140753337 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 7 | 140753339 | missense variant | G/A;C | snv |
|
0.700 | 0 |