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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 |
|
0.030 | 1.000 | 3 | 2019 | 2020 | ||||||||
|
0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 |
|
0.030 | 1.000 | 3 | 2019 | 2020 | ||||||||
|
0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 |
|
0.030 | 1.000 | 3 | 2019 | 2019 | ||||||||
|
0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 |
|
0.020 | 1.000 | 2 | 2019 | 2020 | ||||||||
|
0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 |
|
0.020 | 0.500 | 2 | 2019 | 2020 | ||||||||
|
0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 |
|
0.020 | 1.000 | 2 | 2019 | 2020 | ||||||||
|
0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 |
|
0.020 | 1.000 | 2 | 2019 | 2020 | ||||||||
|
0.925 | 0.080 | 19 | 11120458 | frameshift variant | -/A | delins |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
17 | 7676271 | frameshift variant | -/A | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
17 | 7676271 | frameshift variant | -/A | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1.000 | 0.040 | 2 | 158102039 | frameshift variant | -/A | ins | 8.0E-05; 6.3E-02 | 0.10 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 2 | 61301164 | intron variant | -/A | delins | 0.34 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 8 | 104251126 | frameshift variant | -/A | delins |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.790 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 7 | 44108060 | stop gained | -/A | delins | 1.3E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 7 | 74069201 | 3 prime UTR variant | -/A | ins | 0.30 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.120 | 1 | 209706871 | intron variant | -/A | delins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 1 | 209706871 | intron variant | -/A | delins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 1 | 209706871 | intron variant | -/A | delins |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 12 | 48001261 | intron variant | -/A | delins | 3.7E-04 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |