| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 10 | 121580797 | intron variant | C/A;T | snv |
|
0.790 | 0.909 | 11 | 2007 | 2018 | |||||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv |
|
0.100 | 0.818 | 11 | 2004 | 2015 | |||||||||
|
0.882 | 0.080 | 10 | 62518923 | intron variant | G/A | snv | 0.16 |
|
0.770 | 1.000 | 10 | 2010 | 2017 | ||||||||
|
0.827 | 0.080 | 5 | 44662413 | upstream gene variant | C/T | snv | 0.49 |
|
0.790 | 1.000 | 10 | 2008 | 2018 | ||||||||
|
0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv |
|
0.770 | 0.778 | 9 | 2009 | 2016 | |||||||||
|
0.851 | 0.160 | 10 | 121591810 | intron variant | T/C | snv | 0.56 |
|
0.770 | 1.000 | 9 | 2007 | 2017 | ||||||||
|
0.807 | 0.120 | 17 | 54979110 | intron variant | G/A | snv | 0.29 |
|
0.770 | 0.889 | 9 | 2009 | 2017 | ||||||||
|
0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv |
|
0.760 | 1.000 | 9 | 2000 | 2013 | |||||||||
|
0.776 | 0.200 | 14 | 68567965 | intron variant | C/T | snv | 0.16 |
|
0.770 | 0.889 | 9 | 2009 | 2016 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.750 | 1.000 | 8 | 2011 | 2019 | ||||||||
|
0.807 | 0.120 | 16 | 52514125 | intron variant | A/G | snv | 0.48 |
|
0.770 | 0.875 | 8 | 2007 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 23607911 | frameshift variant | AG/- | delins |
|
0.700 | 1.000 | 8 | 2006 | 2015 | |||||||||
|
0.807 | 0.160 | 16 | 52565276 | intron variant | C/T | snv | 0.20 |
|
0.770 | 1.000 | 8 | 2010 | 2020 | ||||||||
|
1.000 | 0.080 | 16 | 23635787 | frameshift variant | -/A | delins | 1.4E-05 |
|
0.700 | 1.000 | 8 | 2012 | 2017 | ||||||||
|
1.000 | 0.080 | 16 | 23603512 | frameshift variant | AG/- | delins |
|
0.700 | 1.000 | 8 | 2009 | 2016 | |||||||||
|
0.925 | 0.080 | 16 | 52500255 | intron variant | T/C | snv | 0.61 |
|
0.770 | 0.875 | 8 | 2007 | 2019 | ||||||||
|
0.827 | 0.080 | 12 | 28002147 | intergenic variant | A/G | snv | 8.9E-02 |
|
0.750 | 1.000 | 7 | 2012 | 2016 | ||||||||
|
1.000 | 0.080 | 17 | 61808488 | missense variant | C/T | snv |
|
0.700 | 1.000 | 7 | 2001 | 2014 | |||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.070 | 0.714 | 7 | 2009 | 2019 | |||||||||
|
1.000 | 0.080 | 16 | 23622982 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 7 | 2007 | 2016 | |||||||||
|
0.776 | 0.280 | 10 | 121577821 | intron variant | A/G | snv | 0.53 |
|
0.740 | 1.000 | 7 | 2009 | 2017 | ||||||||
|
1.000 | 0.080 | 16 | 23603563 | frameshift variant | -/T | delins |
|
0.700 | 1.000 | 7 | 2009 | 2016 | |||||||||
|
0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 |
|
0.070 | 0.857 | 7 | 2007 | 2020 | ||||||||
|
0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 |
|
0.740 | 1.000 | 6 | 2010 | 2015 | ||||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
0.060 | 0.833 | 6 | 2004 | 2016 |