| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.080 | 1 | 11992689 | missense variant | C/T | snv |
|
0.710 | 1.000 | 4 | 2008 | 2014 | |||||||||
|
0.925 | 0.160 | 18 | 79710825 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.080 | 1 | 161306719 | frameshift variant | TACA/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 1 | 161306900 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 5 | 149038339 | frameshift variant | G/- | del |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.120 | MT | 9185 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.080 | 14 | 101980506 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 1 | 161305973 | splice acceptor variant | TCTGGGGGAGGGGCG/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 17 | 15259134 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 5 | 149010294 | frameshift variant | C/- | delins | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 8 | 74360184 | missense variant | C/T | snv | 7.0E-06 |
|
0.720 | 1.000 | 0 | 2010 | 2015 | ||||||||
|
0.827 | 0.080 | 12 | 119187080 | missense variant | G/C;T | snv |
|
0.720 | 1.000 | 0 | 2006 | 2017 | |||||||||
|
0.827 | 0.080 | 12 | 119187078 | missense variant | A/C;G | snv |
|
0.710 | 1.000 | 0 | 2006 | 2006 | |||||||||
|
0.882 | 0.080 | 1 | 10258602 | missense variant | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.160 | 1 | 161306785 | missense variant | G/A;T | snv |
|
0.760 | 1.000 | 0 | 1999 | 2004 | |||||||||
|
0.827 | 0.160 | 1 | 161307268 | missense variant | T/A | snv |
|
0.710 | 1.000 | 0 | 2000 | 2000 | |||||||||
|
0.776 | 0.160 | 10 | 119672373 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | X | 71223757 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 16 | 70268356 | missense variant | C/T | snv |
|
0.710 | 1.000 | 0 | 2012 | 2012 | |||||||||
|
0.851 | 0.080 | 12 | 109798823 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.716 | 0.360 | 12 | 109800665 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 12 | 109798820 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.080 | 12 | 109800666 | missense variant | G/A;T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 22 | 50465006 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 11 | 68911496 | missense variant | T/G | snv |
|
0.700 | 0 |