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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.320 | 8 | 99717219 | missense variant | T/G | snv |
|
0.800 | 1.000 | 0 | 2003 | 2009 | |||||||||
|
1.000 | 0.320 | 8 | 99784394 | missense variant | G/A | snv |
|
0.800 | 1.000 | 0 | 2003 | 2009 | |||||||||
|
1.000 | 0.320 | 8 | 99818473 | missense variant | T/C | snv |
|
0.800 | 1.000 | 0 | 2003 | 2009 | |||||||||
|
1.000 | 0.320 | 8 | 99820031 | missense variant | A/G | snv | 3.2E-03 | 3.9E-03 |
|
0.800 | 1.000 | 0 | 2003 | 2009 | |||||||
|
1.000 | 0.320 | 8 | 99720944 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
0.800 | 1.000 | 0 | 2003 | 2009 | |||||||
|
0.925 | 0.320 | 8 | 99384294 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 12 | 1998 | 2015 | |||||||
|
0.925 | 0.320 | 8 | 99384294 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 12 | 1998 | 2015 | |||||||
|
1.000 | 8 | 99641974 | frameshift variant | -/GTCC | delins |
|
0.700 | 1.000 | 12 | 1998 | 2015 | ||||||||||
|
1.000 | 8 | 99641974 | frameshift variant | -/GTCC | delins |
|
0.700 | 1.000 | 12 | 1998 | 2015 | ||||||||||
|
1.000 | 8 | 99641974 | frameshift variant | -/GTCC | delins |
|
0.700 | 1.000 | 12 | 1998 | 2015 | ||||||||||
|
0.925 | 0.320 | 8 | 99835295 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 12 | 1998 | 2015 | |||||||||
|
0.925 | 0.320 | 8 | 99835295 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 12 | 1998 | 2015 | |||||||||
|
0.925 | 0.320 | 8 | 99835295 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 12 | 1998 | 2015 | |||||||||
|
1.000 | 0.320 | 8 | 99717374 | splice donor variant | G/A;T | snv | 4.0E-05 | 7.0E-05 |
|
0.700 | 1.000 | 6 | 2004 | 2015 | |||||||
|
1.000 | 0.320 | 8 | 99442617 | stop gained | C/T | snv | 4.0E-05 | 1.4E-05 |
|
0.700 | 1.000 | 4 | 2007 | 2010 | |||||||
|
1.000 | 0.320 | 8 | 99818529 | stop gained | C/T | snv | 1.6E-05 |
|
0.700 | 1.000 | 4 | 2009 | 2014 | ||||||||
|
1.000 | 0.320 | 8 | 99832368 | splice acceptor variant | G/A;C;T | snv |
|
0.700 | 1.000 | 4 | 2004 | 2014 | |||||||||
|
1.000 | 0.320 | 8 | 99720973 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 3 | 2003 | 2015 | |||||||
|
1.000 | 0.320 | 8 | 99275256 | splice donor variant | T/C;G | snv | 8.0E-06; 1.2E-05 |
|
0.700 | 1.000 | 3 | 2004 | 2010 | ||||||||
|
1.000 | 0.320 | 8 | 99818712 | splice acceptor variant | G/T | snv |
|
0.700 | 1.000 | 3 | 2004 | 2010 | |||||||||
|
1.000 | 0.320 | 8 | 99871446 | splice acceptor variant | A/G | snv |
|
0.700 | 1.000 | 3 | 2004 | 2010 | |||||||||
|
1.000 | 0.320 | 8 | 99766972 | splice donor variant | T/C | snv |
|
0.700 | 1.000 | 3 | 2004 | 2010 | |||||||||
|
1.000 | 0.320 | 8 | 99156609 | stop gained | C/A;T | snv | 1.2E-05; 8.0E-06 |
|
0.700 | 1.000 | 3 | 2003 | 2010 | ||||||||
|
1.000 | 0.320 | 8 | 99641938 | frameshift variant | -/AG | delins |
|
0.700 | 1.000 | 3 | 2003 | 2010 | |||||||||
|
0.925 | 0.360 | 8 | 99868312 | stop gained | C/T | snv | 2.1E-05 |
|
0.700 | 1.000 | 3 | 2004 | 2015 |