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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.320 | 2 | 178589003 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.200 | 2 | 178563475 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 2 | 178579702 | stop gained | G/A;C | snv | 1.6E-05 | 3.5E-05 |
|
0.700 | 1.000 | 2 | 2012 | 2015 | |||||||
|
0.807 | 0.200 | 2 | 178553783 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 2 | 178570991 | frameshift variant | TCTT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 2 | 178738361 | splice acceptor variant | C/T | snv | 4.1E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.240 | 2 | 178535508 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 4 | 2008 | 2015 | ||||||||
|
0.851 | 0.200 | 2 | 178546102 | missense variant | A/G | snv | 4.1E-06 |
|
0.700 | 1.000 | 4 | 2014 | 2015 | ||||||||
|
0.882 | 0.160 | 2 | 178527198 | missense variant | CCATGTTACTT/TTTTTCTTTCA | mnv |
|
0.700 | 1.000 | 5 | 2002 | 2015 | |||||||||
|
0.882 | 0.200 | 2 | 178546041 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 5 | 2012 | 2015 | |||||||
|
0.882 | 0.160 | 2 | 178574530 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2013 | 2017 | ||||||||
|
0.882 | 0.160 | 2 | 178548460 | stop gained | G/A;T | snv | 4.0E-06; 8.1E-06 |
|
0.700 | 1.000 | 4 | 2012 | 2017 | ||||||||
|
0.882 | 0.160 | 2 | 178605642 | stop gained | C/A | snv |
|
0.700 | 1.000 | 3 | 2013 | 2015 | |||||||||
|
0.882 | 0.160 | 2 | 178533255 | frameshift variant | C/- | delins | 2.4E-05 | 1.4E-05 |
|
0.700 | 1.000 | 3 | 2008 | 2014 | |||||||
|
0.882 | 0.200 | 2 | 178592056 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.160 | 2 | 178610089 | splice donor variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.160 | 2 | 178534092 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 7 | 2008 | 2017 | ||||||||
|
0.925 | 0.160 | 2 | 178591977 | splice donor variant | C/T | snv | 4.1E-06 |
|
0.700 | 1.000 | 6 | 2007 | 2018 | ||||||||
|
0.925 | 0.160 | 2 | 178615486 | splice acceptor variant | T/G | snv |
|
0.700 | 1.000 | 5 | 2007 | 2015 | |||||||||
|
0.925 | 0.160 | 2 | 178608479 | splice acceptor variant | T/G | snv | 2.1E-05 |
|
0.700 | 1.000 | 5 | 2007 | 2015 | ||||||||
|
0.925 | 0.160 | 2 | 178579938 | splice donor variant | C/T | snv | 8.1E-06 |
|
0.700 | 1.000 | 5 | 2007 | 2015 | ||||||||
|
0.925 | 0.160 | 2 | 178535790 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2008 | 2015 | ||||||||
|
0.925 | 0.160 | 2 | 178528273 | splice donor variant | C/G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 4 | 2008 | 2015 | ||||||||
|
0.925 | 0.160 | 2 | 178618706 | frameshift variant | -/T | delins |
|
0.700 | 1.000 | 4 | 2012 | 2015 |