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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
X | 108595507 | coding sequence variant | AAGGTGACA/- | delins |
|
0.700 | 0 | ||||||||||||||
|
0.882 | 0.040 | 15 | 75411651 | frameshift variant | -/T | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 1 | 155910695 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 12 | 45850644 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 7 | 140778006 | missense variant | T/A;C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 12 | 112489047 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 6 | 33441318 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 2 | 39051202 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 6 | 78958551 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 15 | 48434600 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 15 | 48505029 | missense variant | A/C | snv |
|
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 | ||||||||||||
|
0.827 | 0.200 | X | 41343249 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.240 | 15 | 48495502 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.240 | 2 | 39022772 | missense variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | 22 | 41527949 | missense variant | C/G;T | snv | 4.0E-06; 3.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.240 | 12 | 112450408 | missense variant | G/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.240 | 15 | 89649836 | missense variant | T/G | snv | 1.3E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.240 | 22 | 41526319 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2006 | 2006 | |||||||||
|
0.807 | 0.280 | 12 | 112486482 | missense variant | C/A;T | snv | 8.0E-06; 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.280 | 6 | 33438873 | stop gained | C/T | snv |
|
0.700 | 0 |