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 | 17 | 61799205 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 17 | 43092155 | frameshift variant | GA/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.320 | 11 | 108307985 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 16 | 23614019 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 17 | 43093393 | stop gained | G/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.200 | 17 | 43124032 | stop gained | A/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 13 | 32341169 | frameshift variant | AAGAG/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 17 | 43093074 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 13 | 32339386 | frameshift variant | AA/-;A | delins | 0.700 | 0 | ||||||||
|
6 | 0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
6 | 0.851 | 0.280 | 7 | 5978675 | frameshift variant | AAGTT/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.763 | 0.280 | 17 | 43063931 | missense variant | G/A;T | snv | 2.4E-05; 8.0E-06 | 0.800 | 0 | |||||||
|
7 | 0.827 | 0.200 | 13 | 32356550 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
8 | 0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 | 0.700 | 0 | ||||||
|
9 | 0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.720 | 1.000 | 0 | 1997 | 1998 | |||
|
11 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
11 | 0.790 | 0.280 | 8 | 89971214 | frameshift variant | GTTTT/- | delins | 2.0E-04 | 0.700 | 0 | |||||||
|
12 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.710 | 1.000 | 0 | 2006 | 2006 |