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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 17 | 42536274 | start lost | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 42543068 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 42541127 | missense variant | C/G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 42543360 | missense variant | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 42544068 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 42543431 | frameshift variant | G/- | del | 4.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 42541111 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 42543396 | stop gained | C/T | snv | 1.3E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 17 | 42543466 | frameshift variant | -/C | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 42536352 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 42543906 | missense variant | G/A | snv | 1.3E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 17 | 42543206 | frameshift variant | G/- | del | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 42536276 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 42536284 | frameshift variant | GCGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 42540979 | frameshift variant | CAGTTGGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 42540994 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 42543099 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 42543116 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 42543427 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 42543444 | frameshift variant | GCCCGGCGGT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 42543711 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 42543714 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 42543869 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 42543898 | frameshift variant | TGAGGCCGAGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 42543938 | stop gained | C/G | snv | 0.700 | 0 |