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 | 1.000 | 17 | 35119533 | frameshift variant | T/- | del | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 35101326 | frameshift variant | CTCCCGC/- | delins | 0.700 | 0 | |||||||||
|
1 | 17 | 35103254 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 17 | 35103479 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 17 | 35118548 | stop gained | G/A;T | snv | 1.1E-04 | 2.7E-04 | 0.700 | 0 | |||||||
|
2 | 1.000 | 17 | 35101366 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 17 | 35103457 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 17 | 35107005 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 17 | 35107123 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 17 | 35107368 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 17 | 35107449 | splice acceptor variant | T/G | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 17 | 35118535 | stop gained | TTCAGTTCCTCGTAGAGATC/-;TTCAGTTCCTCGTAGAGATCTTCAGTTCCTCGTAGAGATC | delins | 0.700 | 0 | |||||||||
|
1 | 17 | 35118586 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 17 | 35103321 | stop gained | A/T | snv | 0.700 | 0 | ||||||||||
|
1 | 17 | 35106454 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 35118510 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 17 | 35103466 | stop gained | GACCTCC/AACCTCA | mnv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 35106415 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 17 | 35107440 | frameshift variant | -/TA | ins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 17 | 35107384 | frameshift variant | -/G | delins | 8.0E-06 | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 17 | 35107026 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||||
|
1 | 17 | 35118564 | frameshift variant | TTCACGGGGAAAGCCG/- | del | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 17 | 35101206 | frameshift variant | G/- | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 17 | 35107380 | frameshift variant | -/A | delins | 0.700 | 0 | |||||||||
|
1 | 17 | 35119531 | splice donor variant | C/A;T | snv | 0.700 | 0 |