| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.320 | 16 | 13949318 | 3 prime UTR variant | C/A;G | snv |
|
0.030 | 0.333 | 3 | 2014 | 2017 | |||||||||
|
0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv |
|
0.030 | 0.667 | 3 | 2014 | 2017 | |||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.030 | 1.000 | 3 | 2013 | 2017 | |||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.730 | 1.000 | 3 | 2015 | 2019 | ||||||||
|
0.827 | 0.160 | 3 | 37047639 | missense variant | AA/GC | mnv |
|
0.030 | 1.000 | 3 | 2011 | 2014 | |||||||||
|
0.724 | 0.320 | 13 | 49630894 | stop gained | G/A | snv | 4.2E-06 |
|
0.030 | 1.000 | 3 | 2006 | 2008 | ||||||||
|
0.732 | 0.240 | 2 | 182834857 | missense variant | G/A;C;T | snv | 8.0E-05; 8.0E-02; 5.6E-05 |
|
0.030 | 1.000 | 3 | 2007 | 2019 | ||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.030 | 1.000 | 3 | 2008 | 2018 | |||||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv |
|
0.030 | 0.667 | 3 | 2002 | 2011 | |||||||||
|
0.851 | 0.080 | 7 | 55160316 | missense variant | C/A | snv |
|
0.020 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
0.763 | 0.280 | 12 | 57768302 | intron variant | G/C;T | snv |
|
0.020 | 1.000 | 2 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 1 | 221724004 | intron variant | A/C;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.020 | 0.500 | 2 | 2002 | 2019 | ||||||||
|
0.851 | 0.160 | 9 | 99105256 | inframe insertion | GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG | delins |
|
0.020 | 1.000 | 2 | 2010 | 2014 | |||||||||
|
0.925 | 0.080 | 11 | 65493967 | upstream gene variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.820 | 1.000 | 2 | 2005 | 2016 | ||||||||
|
0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv |
|
0.020 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
0.851 | 0.120 | 3 | 9765892 | splice acceptor variant | T/C | snv | 4.0E-06 |
|
0.020 | 0.500 | 2 | 2005 | 2009 | ||||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.020 | 0.500 | 2 | 2011 | 2015 | ||||||||
|
0.925 | 0.080 | 15 | 74720557 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2008 | 2010 | ||||||||
|
0.827 | 0.160 | 3 | 37050495 | missense variant | C/G | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2004 | 2007 | ||||||||
|
0.790 | 0.200 | 8 | 127091692 | non coding transcript exon variant | T/A;C | snv |
|
0.020 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
0.925 | 0.160 | 5 | 87268486 | missense variant | G/A | snv |
|
0.020 | 0.500 | 2 | 1999 | 2019 | |||||||||
|
1.000 | 0.080 | 5 | 135141069 | intron variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2015 | 2016 |