| 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 | 22 | 28734439 | stop gained | G/A;C | snv | 8.0E-06 | 2.8E-05 |
|
0.700 | 1.000 | 6 | 2008 | 2016 | |||||||
|
0.925 | 0.200 | 22 | 28687974 | stop gained | G/A;C | snv | 4.3E-06 |
|
0.700 | 1.000 | 5 | 2003 | 2016 | ||||||||
|
0.882 | 0.120 | 22 | 28734664 | stop gained | G/A | snv | 1.4E-04 | 2.8E-05 |
|
0.720 | 1.000 | 3 | 2014 | 2016 | |||||||
|
0.882 | 0.120 | 22 | 28711986 | stop gained | C/A;G;T | snv | 8.0E-06; 4.0E-06; 7.6E-05 |
|
0.700 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
1.000 | 0.080 | 22 | 28734443 | stop gained | C/T | snv | 2.4E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 22 | 28725040 | stop gained | T/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 22 | 28725348 | stop gained | G/A;C | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 22 | 28711922 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 22 | 28734622 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 22 | 28694058 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 22 | 28695205 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 22 | 28695723 | stop gained | TAACTCCTA/CTCCT | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 22 | 28725101 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 22 | 28725323 | stop gained | CA/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 22 | 28734475 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 22 | 28734490 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 22 | 28725270 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 22 | 28695737 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 28734571 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 22 | 28734506 | stop gained | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 22 | 28725278 | stop gained | G/A;C | snv | 2.4E-05 | 7.0E-06 |
|
0.710 | 1.000 | 0 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 22 | 28695146 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 22 | 28734637 | stop gained | G/A | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 28734517 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 28699858 | stop gained | G/A;C | snv |
|
0.700 | 0 |