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 | 0.925 | 0.200 | 17 | 61861484 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.280 | 17 | 61793727 | stop gained | C/A;T | snv | 2.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.280 | 17 | 61744578 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 17 | 61859795 | splice donor variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61784403 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61857167 | stop gained | G/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 61781006 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61859794 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61847214 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61686136 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 17 | 61776412 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61847180 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61808753 | splice acceptor variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61799278 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 61784303 | frameshift variant | -/T | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 17 | 61683974 | frameshift variant | C/- | delins | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 61801454 | stop gained | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 61715978 | frameshift variant | -/A | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 61686152 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61693488 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 61715952 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 61716043 | frameshift variant | GTA/CAAAT | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 17 | 61743012 | splice donor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 61744471 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61744483 | frameshift variant | -/A | delins | 0.700 | 0 |