Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.120 | 16 | 23634893 | stop gained | A/G;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.200 | 16 | 23623003 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 16 | 23636151 | frameshift variant | A/- | del | 8.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.280 | 16 | 23635788 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.400 | 16 | 23635306 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 16 | 23629760 | frameshift variant | -/AG | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 23629269 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.240 | 16 | 23614089 | frameshift variant | T/- | delins | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
27 | 0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 16 | 23634869 | frameshift variant | TT/C;T | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 16 | 23624008 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 16 | 23638072 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 |