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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.200 | 16 | 16219834 | stop gained | C/T | snv | 7.1E-06 | 0.700 | 0 | |||||||
|
5 | 1.000 | 0.160 | 16 | 16150577 | splice donor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 0.160 | 16 | 16157662 | splice region variant | TCTCTCCT/- | delins | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.160 | 16 | 16157755 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 1.000 | 0.160 | 16 | 16150727 | frameshift variant | C/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 1.000 | 0.160 | 16 | 16150774 | splice acceptor variant | T/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.200 | 16 | 16157675 | frameshift variant | -/GGAT | delins | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.160 | 16 | 16157716 | frameshift variant | -/GTCGGTATCTTAG | delins | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.160 | 16 | 16157768 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.160 | 16 | 16157769 | frameshift variant | -/G | ins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.200 | 16 | 16161437 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.160 | 16 | 16165805 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 16 | 16165810 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.200 | 16 | 16177554 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 16 | 16178830 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
5 | 1.000 | 0.160 | 16 | 16178955 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.200 | 16 | 16182486 | frameshift variant | TCTC/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 16 | 16182896 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.200 | 16 | 16188868 | frameshift variant | TGGGCCTTG/C | delins | 0.700 | 0 | ||||||||
|
6 | 1.000 | 0.160 | 16 | 16188897 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 16 | 16190234 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.160 | 16 | 16219833 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 16 | 16219887 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 16 | 16221822 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.280 | 16 | 16223398 | splice donor variant | C/A | snv | 0.700 | 0 |