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 | 0.280 | 16 | 89283343 | frameshift variant | AT/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.280 | 16 | 89282336 | stop gained | G/A;C | snv | 2.0E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.280 | 16 | 89284141 | frameshift variant | CTTT/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.280 | 16 | 89279362 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.280 | 16 | 89284364 | frameshift variant | TTGT/- | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.280 | 16 | 89283420 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 16 | 89283458 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 16 | 89283315 | frameshift variant | CTTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 16 | 89283895 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 16 | 89279755 | frameshift variant | -/T | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 16 | 89279872 | stop gained | C/A;T | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.280 | 16 | 89280344 | stop gained | GA/TT | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 16 | 89281489 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 16 | 89282254 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 16 | 89282909 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 16 | 89284135 | frameshift variant | GAGT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 16 | 89284863 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 16 | 89285565 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 10 | 74985114 | frameshift variant | ACCTT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 16 | 89281477 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 16 | 89282769 | frameshift variant | CTTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 16 | 89282833 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 16 | 89284494 | frameshift variant | TT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 16 | 89284594 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 16 | 89285650 | splice acceptor variant | C/G | snv | 0.700 | 0 |