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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.360 | 4 | 15563461 | frameshift variant | TA/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.360 | 4 | 15563395 | stop gained | C/T | snv | 1.0E-04 | 1.0E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 4 | 15527635 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 4 | 15533263 | missense variant | T/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 4 | 15553306 | splice donor variant | G/A;C | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 4 | 15557451 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 4 | 15563423 | frameshift variant | G/- | delins | 4.2E-05 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.360 | 4 | 15563485 | stop gained | C/A;G;T | snv | 2.0E-05; 2.0E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.320 | 4 | 15567676 | splice acceptor variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 4 | 15569290 | splice region variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 4 | 15570424 | frameshift variant | -/TG | ins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.320 | 4 | 15570446 | missense variant | T/C | snv | 3.3E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 4 | 15570484 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.320 | 4 | 15579967 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 4 | 15580089 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.320 | 4 | 15580171 | splice region variant | AGTA/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.790 | 0.360 | 4 | 15587929 | splice donor variant | G/- | delins | 1.9E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 4 | 15597467 | splice donor variant | T/A;C | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 4 | 15510217 | stop gained | C/T | snv | 8.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 4 | 15514822 | frameshift variant | G/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.360 | 4 | 15557361 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 4 | 15599582 | missense variant | C/G | snv | 8.1E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
5 | 0.827 | 0.360 | 4 | 15533284 | stop gained | C/T | snv | 1.8E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.320 | 4 | 15567729 | missense variant | C/T | snv | 3.8E-05 | 2.8E-05 | 0.800 | 1.000 | 4 | 2008 | 2014 |