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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.040 | 2 | 178802273 | missense variant | C/T | snv | 4.4E-05 | 1.4E-05 |
|
0.800 | 1.000 | 0 | 2002 | 2005 | |||||||
|
0.925 | 0.040 | 2 | 178782980 | missense variant | A/G;T | snv |
|
0.800 | 1.000 | 0 | 2002 | 2005 | |||||||||
|
1.000 | 0.040 | 2 | 178785990 | missense variant | G/A | snv |
|
0.800 | 1.000 | 0 | 2002 | 2005 | |||||||||
|
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 | |||||||||
|
0.882 | 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 | |||||||
|
0.925 | 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 | |||||||||
|
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 | ||||||||
|
0.925 | 0.160 | 2 | 178622768 | splice acceptor variant | C/T | snv | 4.5E-06 | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2007 | 2014 | |||||||
|
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 | ||||||||
|
0.925 | 0.160 | 2 | 178612355 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2013 | 2017 | ||||||||
|
0.925 | 0.160 | 2 | 178590230 | stop gained | G/A | snv |
|
0.700 | 1.000 | 4 | 2012 | 2017 | |||||||||
|
0.851 | 0.200 | 2 | 178546102 | missense variant | A/G | snv | 4.1E-06 |
|
0.700 | 1.000 | 4 | 2014 | 2015 | ||||||||
|
0.925 | 0.160 | 2 | 178528527 | splice donor variant | C/T | snv |
|
0.700 | 1.000 | 4 | 2008 | 2015 | |||||||||
|
0.925 | 0.160 | 2 | 178532670 | stop gained | G/A;C | snv | 4.0E-06; 2.0E-05 |
|
0.700 | 1.000 | 4 | 2008 | 2015 | ||||||||
|
0.925 | 0.160 | 2 | 178546612 | stop gained | G/A | snv |
|
0.700 | 1.000 | 3 | 2013 | 2017 | |||||||||
|
0.925 | 0.160 | 2 | 178535729 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 3 | 2008 | 2014 | ||||||||
|
0.925 | 0.160 | 2 | 178532100 | stop gained | G/A | snv |
|
0.700 | 1.000 | 3 | 2008 | 2014 |