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 | 0.080 | 8 | 60850476 | intron variant | G/A | snv |
|
0.700 | 1.000 | 4 | 2006 | 2016 | |||||||||
|
0.925 | 0.080 | 8 | 60850486 | splice region variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2004 | 2012 | ||||||||
|
1.000 | 0.080 | 8 | 60862322 | stop gained | C/T | snv |
|
0.700 | 1.000 | 3 | 2006 | 2016 | |||||||||
|
1.000 | 0.080 | 8 | 60852186 | stop gained | C/A;G;T | snv | 1.2E-05; 4.0E-06 |
|
0.700 | 1.000 | 3 | 2006 | 2010 | ||||||||
|
1.000 | 0.080 | 8 | 60852682 | stop gained | C/T | snv |
|
0.700 | 1.000 | 3 | 2006 | 2016 | |||||||||
|
1.000 | 0.080 | 8 | 60862337 | splice donor variant | G/T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2014 | |||||||||
|
0.925 | 0.080 | 8 | 60850476 | intron variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2006 | 2016 | |||||||||
|
1.000 | 0.080 | 8 | 60828661 | splice acceptor variant | A/C | snv |
|
0.700 | 1.000 | 2 | 2012 | 2014 | |||||||||
|
0.925 | 0.080 | 8 | 60838115 | stop gained | C/T | snv |
|
0.700 | 1.000 | 2 | 2006 | 2012 | |||||||||
|
1.000 | 0.080 | 8 | 60856592 | stop gained | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 8 | 60742744 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 8 | 60781253 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 8 | 60741714 | frameshift variant | T/- | del |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 8 | 60742147 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 8 | 60865485 | frameshift variant | ATGAAGA/- | delins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.080 | 8 | 60852882 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.080 | 8 | 60852924 | stop gained | C/G;T | snv | 2.0E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
8 | 60845364 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
0.925 | 0.120 | 8 | 60822504 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 8 | 60850497 | stop gained | T/C;G | snv | 3.5E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv |
|
0.700 | 0 |