| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 |
|
0.060 | 0.667 | 6 | 2011 | 2017 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.060 | 1.000 | 6 | 2007 | 2017 | ||||||||
|
0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 |
|
0.060 | 1.000 | 6 | 2009 | 2017 | ||||||||
|
0.882 | 0.160 | 6 | 151592978 | intron variant | G/A | snv | 6.1E-02 |
|
0.740 | 1.000 | 6 | 2013 | 2015 | ||||||||
|
0.742 | 0.320 | 6 | 152099995 | 3 prime UTR variant | T/C | snv | 0.45 |
|
0.060 | 1.000 | 6 | 2009 | 2018 | ||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.060 | 1.000 | 6 | 2012 | 2018 | |||||||||
|
0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv |
|
0.050 | 1.000 | 5 | 2008 | 2018 | |||||||||
|
0.851 | 0.080 | 12 | 115398717 | regulatory region variant | A/G | snv | 0.43 |
|
0.740 | 1.000 | 5 | 2012 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 23603497 | stop gained | G/A | snv |
|
0.700 | 1.000 | 5 | 2007 | 2016 | |||||||||
|
0.807 | 0.160 | 8 | 127375606 | intron variant | T/C | snv | 0.41 |
|
0.730 | 1.000 | 5 | 2010 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 23603476 | frameshift variant | -/AA | delins |
|
0.700 | 1.000 | 5 | 2007 | 2015 | |||||||||
|
1.000 | 0.080 | 16 | 23603477 | frameshift variant | AATA/- | delins |
|
0.700 | 1.000 | 5 | 2007 | 2015 | |||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.050 | 0.800 | 5 | 2002 | 2017 | |||||||||
|
0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv |
|
0.050 | 0.800 | 5 | 2010 | 2018 | |||||||||
|
0.882 | 0.160 | 6 | 127279485 | intron variant | G/A | snv | 0.73 |
|
0.740 | 0.800 | 5 | 2008 | 2012 | ||||||||
|
0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 |
|
0.050 | 1.000 | 5 | 2008 | 2019 | ||||||||
|
0.763 | 0.320 | 13 | 32363369 | missense variant | G/A;C | snv | 7.0E-06 |
|
0.800 | 1.000 | 5 | 2004 | 2014 | ||||||||
|
1.000 | 0.080 | 16 | 23621427 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 5 | 2012 | 2016 | |||||||||
|
0.925 | 0.200 | 17 | 61847100 | splice donor variant | C/T | snv |
|
0.700 | 1.000 | 5 | 2005 | 2016 | |||||||||
|
1.000 | 0.080 | 2 | 214730416 | stop gained | G/A | snv |
|
0.700 | 1.000 | 5 | 2007 | 2016 | |||||||||
|
0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 |
|
0.050 | 1.000 | 5 | 2009 | 2019 | ||||||||
|
0.851 | 0.080 | 9 | 108126198 | regulatory region variant | G/A;T | snv |
|
0.740 | 1.000 | 5 | 2011 | 2016 | |||||||||
|
0.752 | 0.240 | 11 | 101129483 | 5 prime UTR variant | C/T | snv | 3.6E-02 |
|
0.040 | 1.000 | 4 | 2008 | 2020 | ||||||||
|
1.000 | 0.080 | 22 | 28689176 | frameshift variant | C/- | del |
|
0.700 | 1.000 | 4 | 2003 | 2014 | |||||||||
|
0.925 | 0.200 | 17 | 61685952 | frameshift variant | AGAT/-;AGATAGAT | delins | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2008 | 2011 |