| 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 | |||||||||
|
0.807 | 0.240 | 1 | 156138719 | missense variant | C/A;T | snv | 1.2E-03 |
|
0.700 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
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 | |||||||||
|
0.882 | 0.080 | 1 | 12001423 | missense variant | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 1 | 161307356 | frameshift variant | GGGAGCCC/- | delins | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 1 | 161305973 | splice acceptor variant | TCTGGGGGAGGGGCG/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
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 | |||||||||
|
0.851 | 0.200 | 1 | 156137203 | missense variant | C/T | snv | 1.4E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.120 | 1 | 156135268 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 |
|
0.730 | 1.000 | 0 | 2003 | 2008 | |||||||
|
0.790 | 0.280 | 1 | 156130658 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 2 | 219281772 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 2 | 219279847 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.080 | 5 | 149026872 | stop gained | G/A | snv | 7.5E-04; 4.0E-06 | 6.6E-04 |
|
0.710 | 1.000 | 5 | 2003 | 2014 | |||||||
|
1.000 | 0.080 | 5 | 149038339 | frameshift variant | G/- | del |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 5 | 149028348 | stop gained | C/A | snv | 1.2E-05 |
|
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 | ||||||||
|
1.000 | 0.080 | 7 | 76303817 | missense variant | G/A;T | snv | 4.0E-06 | 2.8E-05 |
|
0.700 | 1.000 | 5 | 2004 | 2014 | |||||||
|
1.000 | 0.080 | 8 | 1882687 | missense variant | G/A;C | snv | 1.8E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 8 | 74364305 | frameshift variant | -/T | delins | 4.0E-06 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 8 | 74361900 | frameshift variant | A/- | del | 4.0E-06 | 2.8E-05 |
|
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 |