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 | 11 | 17527222 | splice donor variant | C/A;G;T | snv | 2.0E-05; 4.0E-06; 2.0E-05 | 0.700 | 1.000 | 7 | 2001 | 2015 | ||||
|
5 | 0.851 | 0.200 | 11 | 17531431 | synonymous variant | C/T | snv | 3.6E-05 | 2.1E-05 | 0.700 | 1.000 | 5 | 2000 | 2007 | |||
|
2 | 0.925 | 0.200 | 11 | 17527256 | stop gained | G/A | snv | 8.0E-06 | 7.1E-06 | 0.700 | 1.000 | 4 | 2007 | 2015 | |||
|
3 | 0.882 | 0.200 | 11 | 17533268 | stop gained | G/A;C | snv | 1.2E-05; 4.0E-05 | 0.700 | 1.000 | 3 | 2001 | 2015 | ||||
|
2 | 0.925 | 0.200 | 11 | 17526345 | splice donor variant | A/C | snv | 0.700 | 1.000 | 2 | 2002 | 2015 | |||||
|
5 | 0.827 | 0.200 | 11 | 17531408 | frameshift variant | -/G | delins | 1.8E-04 | 0.700 | 1.000 | 2 | 2000 | 2001 | ||||
|
2 | 0.925 | 0.200 | 11 | 17501536 | splice acceptor variant | C/A;G | snv | 4.1E-06; 4.1E-06 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
3 | 0.882 | 0.200 | 11 | 17517465 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.200 | 11 | 17526349 | stop gained | G/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.200 | 11 | 17533254 | splice donor variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.200 | 11 | 17524446 | splice donor variant | CCTCCAATCCCACCTCA/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.200 | 11 | 17504664 | stop gained | G/A | snv | 1.5E-04 | 6.6E-04 | 0.700 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.200 | 11 | 17520933 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.200 | 11 | 17523239 | frameshift variant | CTGCGGCT/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 17523479 | splice acceptor variant | C/A | snv | 3.5E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 11 | 17526752 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 17501982 | splice acceptor variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 11 | 17498273 | splice acceptor variant | T/C;G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 11 | 17521413 | splice acceptor variant | T/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 11 | 17531398 | splice donor variant | C/T | snv | 2.1E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 11 | 17496757 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 17498160 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 17498161 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 17501151 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 17501480 | splice donor variant | A/G | snv | 0.700 | 0 |