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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.400 | 10 | 49461378 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.400 | 10 | 49470181 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49470332 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49470346 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49470890 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49472908 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.400 | 10 | 49461473 | stop gained | G/A | snv | 1.4E-04 | 9.1E-05 | 0.700 | 1.000 | 2 | 2010 | 2016 | |||
|
2 | 0.925 | 0.400 | 10 | 49505883 | splice donor variant | C/A | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
7 | 0.790 | 0.440 | 10 | 49472472 | splice acceptor variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2013 | |||
|
8 | 0.776 | 0.440 | 10 | 49483504 | stop gained | G/A | snv | 1.6E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.400 | 10 | 49532904 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49474056 | stop gained | G/A | snv | 2.4E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.400 | 10 | 49530797 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.400 | 10 | 49476312 | splice acceptor variant | T/C | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.400 | 10 | 49458898 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.400 | 10 | 49461382 | frameshift variant | CT/- | del | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.400 | 10 | 49459235 | splice acceptor variant | C/G | snv | 2.0E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.400 | 10 | 49483384 | stop gained | G/A;T | snv | 1.6E-05; 1.6E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.400 | 10 | 49500698 | splice acceptor variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.400 | 10 | 49530737 | stop gained | G/A;T | snv | 2.8E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.400 | 10 | 49482759 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49470547 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49470424 | frameshift variant | T/- | del | 1.4E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.400 | 10 | 49470352 | frameshift variant | -/AAGGTGGACCTTAAGCAGCCAGCCCT | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 1998 | 1998 | ||||
|
4 | 0.851 | 0.400 | 10 | 49528426 | stop gained | C/A | snv | 0.700 | 1.000 | 2 | 2015 | 2017 |