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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.160 | 1 | 153816571 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 1 | 153818075 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 153813428 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 153828267 | frameshift variant | -/CATCA | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 153818833 | frameshift variant | CTTT/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 153811842 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 153812123 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 153812126 | stop gained | C/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 153818853 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 153813258 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
33 | 0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 153813261 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 153812120 | stop gained | G/A;T | snv | 2.4E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 153816508 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 153818822 | frameshift variant | CT/- | delins | 0.700 | 0 |