| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 10 | 110279296 | splice donor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 10 | 110280017 | missense variant | A/C | snv |
|
0.800 | 1.000 | 0 | 2008 | 2015 | |||||||||
|
0.851 | 0.320 | 16 | 16154899 | missense variant | G/A;T | snv | 8.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.320 | 16 | 16163009 | stop gained | G/A | snv | 1.7E-04 | 1.2E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.320 | 16 | 16190246 | missense variant | C/T | snv | 8.4E-05 | 1.1E-04 |
|
0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 22 | 28694073 | missense variant | G/A;C;T | snv | 1.7E-05 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.280 | 22 | 28695219 | missense variant | G/A | snv | 4.9E-04 | 2.6E-04 |
|
0.700 | 0 | ||||||||||
|
0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 22 | 28725241 | splice donor variant | A/C;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 22 | 28725242 | splice donor variant | C/A;T | snv | 4.0E-06; 1.3E-04 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 22 | 28725270 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 22 | 28725278 | stop gained | G/A;C | snv | 2.4E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 22 | 28734401 | splice donor variant | A/G;T | snv | 4.0E-06; 6.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 22 | 28734506 | stop gained | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.320 | 13 | 32319101 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.320 | 13 | 32319109 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.440 | 13 | 32319154 | stop gained | G/C;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.280 | 13 | 32332877 | stop gained | A/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.240 | 13 | 32336684 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.320 | 13 | 32337464 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.280 | 13 | 32338598 | stop gained | G/A;T | snv | 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.724 | 0.440 | 13 | 32340037 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 |
|
0.700 | 0 |