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 | 0.200 | 17 | 61776557 | stop gained | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 0 | 2005 | 2010 | ||||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
0.710 | < 0.001 | 0 | 2016 | 2016 | |||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
0.700 | 1.000 | 18 | 2005 | 2018 | |||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
0.700 | 1.000 | 12 | 2005 | 2016 | |||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
0.700 | 1.000 | 10 | 2005 | 2015 | |||||||
|
0.925 | 0.120 | 17 | 61801348 | missense variant | C/A;G;T | snv | 1.6E-05 |
|
0.700 | 1.000 | 10 | 2005 | 2016 | ||||||||
|
17 | 61808634 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 |
|
0.700 | 1.000 | 7 | 2010 | 2016 | |||||||||
|
0.925 | 0.240 | 17 | 61684051 | frameshift variant | CTTT/- | delins | 1.6E-05 | 2.8E-05 |
|
0.700 | 1.000 | 7 | 2008 | 2018 | |||||||
|
1.000 | 0.120 | 17 | 61716043 | stop gained | G/A;C | snv | 3.3E-04; 2.4E-05; 4.0E-06 |
|
0.700 | 1.000 | 6 | 2005 | 2017 | ||||||||
|
0.851 | 0.320 | 17 | 61776459 | frameshift variant | AA/-;AAAA | delins |
|
0.700 | 1.000 | 6 | 2011 | 2016 | |||||||||
|
0.882 | 0.280 | 17 | 61780325 | stop gained | G/A;T | snv | 1.6E-05; 2.0E-05 |
|
0.700 | 1.000 | 6 | 2014 | 2016 | ||||||||
|
0.882 | 0.280 | 17 | 61744433 | frameshift variant | TT/- | delins | 1.2E-05 | 3.5E-05 |
|
0.700 | 1.000 | 6 | 2005 | 2016 | |||||||
|
0.925 | 0.200 | 17 | 61683645 | frameshift variant | G/- | delins | 1.2E-05 |
|
0.700 | 1.000 | 6 | 2005 | 2016 | ||||||||
|
0.925 | 0.200 | 17 | 61683645 | frameshift variant | G/- | delins | 1.2E-05 |
|
0.700 | 1.000 | 6 | 2005 | 2016 | ||||||||
|
0.925 | 0.120 | 17 | 61801348 | missense variant | C/A;G;T | snv | 1.6E-05 |
|
0.700 | 1.000 | 5 | 2005 | 2016 | ||||||||
|
1.000 | 0.120 | 17 | 61715948 | splice donor variant | -/A | delins | 1.6E-05 | 2.8E-05 |
|
0.700 | 1.000 | 5 | 2004 | 2016 | |||||||
|
0.925 | 0.200 | 17 | 61847100 | splice donor variant | C/T | snv |
|
0.700 | 1.000 | 5 | 2005 | 2016 | |||||||||
|
0.925 | 0.200 | 17 | 61847100 | splice donor variant | C/T | snv |
|
0.700 | 1.000 | 5 | 2005 | 2016 | |||||||||
|
0.882 | 0.280 | 17 | 61780325 | stop gained | G/A;T | snv | 1.6E-05; 2.0E-05 |
|
0.700 | 1.000 | 5 | 2014 | 2018 | ||||||||
|
0.882 | 0.280 | 17 | 61780325 | stop gained | G/A;T | snv | 1.6E-05; 2.0E-05 |
|
0.700 | 1.000 | 5 | 2014 | 2016 | ||||||||
|
0.925 | 0.200 | 17 | 61861446 | splice donor variant | C/A;T | snv |
|
0.700 | 1.000 | 5 | 2005 | 2016 | |||||||||
|
0.882 | 0.280 | 17 | 61744433 | frameshift variant | TT/- | delins | 1.2E-05 | 3.5E-05 |
|
0.700 | 1.000 | 5 | 2005 | 2016 | |||||||
|
0.925 | 0.200 | 17 | 61776487 | frameshift variant | -/A | delins | 8.0E-06 | 2.1E-05 |
|
0.700 | 1.000 | 5 | 2006 | 2018 | |||||||
|
0.925 | 0.200 | 17 | 61685952 | frameshift variant | AGAT/-;AGATAGAT | delins | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2008 | 2011 | ||||||||
|
0.925 | 0.200 | 17 | 61685952 | frameshift variant | AGAT/-;AGATAGAT | delins | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2008 | 2011 |