Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.240 | 12 | 88141287 | missense variant | C/A | snv |
|
0.800 | 1.000 | 1 | 2006 | 2015 | |||||||||
|
0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 |
|
0.710 | 1.000 | 12 | 2006 | 2018 | |||||||
|
0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 |
|
0.700 | 1.000 | 12 | 2006 | 2016 | |||||||
|
0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 |
|
0.700 | 1.000 | 12 | 2006 | 2016 | |||||||
|
0.882 | 0.200 | 12 | 88083077 | stop gained | C/A | snv | 3.6E-05 | 6.3E-05 |
|
0.700 | 1.000 | 5 | 2006 | 2017 | |||||||
|
0.882 | 0.200 | 12 | 88083077 | stop gained | C/A | snv | 3.6E-05 | 6.3E-05 |
|
0.700 | 1.000 | 5 | 2006 | 2017 | |||||||
|
0.882 | 0.200 | 12 | 88083077 | stop gained | C/A | snv | 3.6E-05 | 6.3E-05 |
|
0.700 | 1.000 | 5 | 2006 | 2017 | |||||||
|
0.827 | 0.280 | 12 | 88093904 | frameshift variant | T/-;TT | delins | 1.7E-05 | 9.1E-05 |
|
0.700 | 1.000 | 5 | 2006 | 2016 | |||||||
|
0.827 | 0.280 | 12 | 88093904 | frameshift variant | T/-;TT | delins | 1.7E-05 | 9.1E-05 |
|
0.700 | 1.000 | 5 | 2006 | 2016 | |||||||
|
0.827 | 0.280 | 12 | 88093904 | frameshift variant | T/-;TT | delins | 1.7E-05 | 9.1E-05 |
|
0.700 | 1.000 | 5 | 2006 | 2016 | |||||||
|
0.882 | 0.200 | 12 | 88083080 | frameshift variant | TT/- | delins | 2.8E-05 | 2.8E-05 |
|
0.700 | 1.000 | 5 | 2007 | 2016 | |||||||
|
0.882 | 0.200 | 12 | 88083080 | frameshift variant | TT/- | delins | 2.8E-05 | 2.8E-05 |
|
0.700 | 1.000 | 5 | 2007 | 2016 | |||||||
|
0.882 | 0.200 | 12 | 88083080 | frameshift variant | TT/- | delins | 2.8E-05 | 2.8E-05 |
|
0.700 | 1.000 | 5 | 2007 | 2016 | |||||||
|
0.776 | 0.280 | 12 | 88125370 | splice acceptor variant | C/T | snv | 1.5E-05 |
|
0.700 | 1.000 | 5 | 2006 | 2011 | ||||||||
|
0.776 | 0.280 | 12 | 88125370 | splice acceptor variant | C/T | snv | 1.5E-05 |
|
0.700 | 1.000 | 5 | 2006 | 2011 | ||||||||
|
0.776 | 0.280 | 12 | 88125370 | splice acceptor variant | C/T | snv | 1.5E-05 |
|
0.700 | 1.000 | 5 | 2006 | 2011 | ||||||||
|
0.742 | 0.280 | 12 | 88101183 | intron variant | T/C | snv | 2.8E-04 |
|
0.700 | 1.000 | 4 | 2006 | 2012 | ||||||||
|
0.742 | 0.280 | 12 | 88101183 | intron variant | T/C | snv | 2.8E-04 |
|
0.700 | 1.000 | 4 | 2006 | 2012 | ||||||||
|
0.742 | 0.280 | 12 | 88101183 | intron variant | T/C | snv | 2.8E-04 |
|
0.700 | 1.000 | 4 | 2006 | 2012 | ||||||||
|
0.882 | 0.200 | 12 | 88114418 | splice donor variant | CA/- | delins | 2.0E-05 |
|
0.700 | 1.000 | 4 | 2006 | 2013 | ||||||||
|
0.882 | 0.200 | 12 | 88114418 | splice donor variant | CA/- | delins | 2.0E-05 |
|
0.700 | 1.000 | 4 | 2006 | 2013 | ||||||||
|
0.882 | 0.200 | 12 | 88114418 | splice donor variant | CA/- | delins | 2.0E-05 |
|
0.700 | 1.000 | 4 | 2006 | 2013 | ||||||||
|
0.851 | 0.240 | 12 | 88083076 | frameshift variant | CT/- | delins | 7.1E-06 |
|
0.700 | 1.000 | 4 | 2007 | 2016 | ||||||||
|
0.851 | 0.240 | 12 | 88083076 | frameshift variant | CT/- | delins | 7.1E-06 |
|
0.700 | 1.000 | 4 | 2007 | 2016 | ||||||||
|
0.851 | 0.240 | 12 | 88083076 | frameshift variant | CT/- | delins | 7.1E-06 |
|
0.700 | 1.000 | 4 | 2007 | 2016 |