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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.763 | 0.160 | 4 | 5748226 | stop gained | C/A;T | snv | 3.2E-05; 1.2E-05 | 0.700 | 1.000 | 3 | 2000 | 2018 | ||||
|
1 | 1.000 | 0.120 | 4 | 5753797 | missense variant | G/A | snv | 1.8E-02 | 7.1E-02 | 0.700 | 1.000 | 3 | 2000 | 2010 | |||
|
2 | 0.925 | 0.120 | 4 | 5793722 | splice region variant | G/A;T | snv | 6.5E-06; 6.5E-06 | 0.700 | 1.000 | 3 | 2000 | 2013 | ||||
|
1 | 1.000 | 0.120 | 4 | 5810453 | splice region variant | A/G | snv | 8.5E-06 | 0.700 | 1.000 | 2 | 2013 | 2017 | ||||
|
1 | 1.000 | 0.120 | 4 | 5793644 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2007 | 2010 | |||||
|
2 | 0.925 | 0.160 | 4 | 5783682 | frameshift variant | C/- | del | 1.2E-04 | 0.700 | 1.000 | 2 | 2007 | 2013 | ||||
|
1 | 1.000 | 0.120 | 4 | 5793607 | splice acceptor variant | G/A | snv | 6.4E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.160 | 4 | 5748262 | frameshift variant | -/AGCC | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 4 | 5753840 | frameshift variant | G/- | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 4 | 5783666 | stop gained | G/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 4 | 5748268 | stop gained | G/A;T | snv | 2.8E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 4 | 5793606 | splice acceptor variant | A/G | snv | 6.4E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.120 | 4 | 5809612 | splice donor variant | G/T | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 4 | 5809611 | splice donor variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 5808274 | stop gained | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 4 | 5756258 | splice acceptor variant | CAGGCTTTTCA/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 5793699 | missense variant | T/C | snv | 6.4E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 4 | 5798724 | stop gained | C/T | snv | 4.1E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 4 | 5798662 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 5756299 | missense variant | G/A | snv | 3.9E-04 | 1.6E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 4 | 5753871 | frameshift variant | -/GAACAGAGAAG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 5756271 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 5756352 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 5783550 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 5797233 | splice donor variant | G/T | snv | 0.700 | 0 |