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 | 2 | 47414268 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 4 | 2005 | 2016 | |||||||
|
1 | 2 | 47480820 | frameshift variant | -/G | delins | 0.700 | 1.000 | 3 | 1998 | 2008 | |||||||
|
1 | 2 | 47475060 | frameshift variant | T/- | delins | 0.700 | 1.000 | 2 | 2005 | 2014 | |||||||
|
1 | 2 | 47475021 | splice acceptor variant | AGGCTATGTAGAACCAATGCAGACAC/- | delins | 0.700 | 1.000 | 2 | 2005 | 2014 | |||||||
|
2 | 2 | 47480690 | splice acceptor variant | TTATA/- | del | 7.0E-06 | 0.700 | 1.000 | 2 | 2005 | 2014 | ||||||
|
2 | 2 | 47414416 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||||
|
1 | 2 | 47403392 | splice donor variant | GGCAGGTGAGGGCCGGGACGGCGCGTGCTGGGGAGGGACCCGGGGCC/- | delins | 0.700 | 1.000 | 2 | 2005 | 2014 | |||||||
|
1 | 2 | 47466810 | splice donor variant | T/C | snv | 0.700 | 1.000 | 2 | 2005 | 2014 | |||||||
|
2 | 2 | 47476421 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||||
|
2 | 2 | 47466710 | stop gained | T/A;C | snv | 3.1E-04 | 0.700 | 1.000 | 2 | 2005 | 2014 | ||||||
|
2 | 2 | 47445622 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2003 | 2012 | |||||||
|
1 | 2 | 47408481 | stop gained | TA/- | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 2 | 47445642 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 2 | 47463054 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 2 | 47480794 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 2 | 47414407 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 2 | 47478358 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 2 | 47412558 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1 | 2 | 47410115 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 47403404 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 47429776 | stop gained | G/A;C;T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 47403278 | frameshift variant | GCCG/- | del | 0.700 | 0 | ||||||||||
|
1 | 2 | 47403276 | stop gained | A/T | snv | 0.700 | 0 | ||||||||||
|
2 | 2 | 47463156 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 47463048 | frameshift variant | C/- | delins | 0.700 | 0 |