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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 1 | 161356832 | stop gained | C/T | snv | 3.6E-05 | 7.0E-06 |
|
0.700 | 1.000 | 7 | 2007 | 2016 | |||||||
|
0.882 | 0.080 | 1 | 17028737 | splice acceptor variant | C/G | snv |
|
0.700 | 1.000 | 6 | 2007 | 2016 | |||||||||
|
0.851 | 0.120 | 1 | 17028599 | splice donor variant | C/G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 6 | 2006 | 2014 | ||||||||
|
0.827 | 0.160 | 1 | 161356841 | splice donor variant | G/A;C;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 6 | 2003 | 2014 | ||||||||
|
0.882 | 0.080 | 1 | 17022648 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 6 | 2002 | 2015 | |||||||
|
0.925 | 0.080 | 1 | 17044791 | frameshift variant | GAGGT/- | delins |
|
0.700 | 1.000 | 6 | 2004 | 2014 | |||||||||
|
4 | 54727501 | inframe deletion | GAT/- | delins |
|
0.700 | 1.000 | 5 | 1998 | 2015 | |||||||||||
|
0.882 | 0.080 | 1 | 17024024 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 5 | 2005 | 2013 | |||||||||
|
0.882 | 0.080 | 1 | 161323636 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 1.000 | 5 | 2008 | 2014 | |||||||
|
0.882 | 0.080 | 1 | 17028680 | stop gained | G/A;C | snv | 8.0E-06 |
|
0.700 | 1.000 | 5 | 2006 | 2017 | ||||||||
|
0.882 | 0.080 | 1 | 17033059 | splice donor variant | C/T | snv |
|
0.700 | 1.000 | 5 | 2006 | 2016 | |||||||||
|
0.882 | 0.080 | 1 | 17024076 | splice acceptor variant | T/C | snv |
|
0.700 | 1.000 | 5 | 2007 | 2014 | |||||||||
|
0.851 | 0.160 | 1 | 17044818 | missense variant | T/A | snv | 4.4E-05 | 1.4E-05 |
|
0.700 | 1.000 | 4 | 2012 | 2017 | |||||||
|
0.925 | 0.080 | 1 | 161328466 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2009 | 2016 | ||||||||
|
0.882 | 0.080 | 1 | 17033058 | splice donor variant | A/T | snv |
|
0.700 | 1.000 | 4 | 2006 | 2012 | |||||||||
|
0.925 | 0.120 | 4 | 54736498 | missense variant | G/C | snv |
|
0.700 | 1.000 | 3 | 2007 | 2013 | |||||||||
|
4 | 54733175 | missense variant | T/G | snv |
|
0.700 | 1.000 | 3 | 2007 | 2013 | |||||||||||
|
4 | 54285925 | missense variant | GA/AT | mnv |
|
0.700 | 1.000 | 3 | 2006 | 2014 | |||||||||||
|
0.763 | 0.240 | 4 | 54733174 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 3 | 2005 | 2014 | |||||||||
|
4 | 54727909 | missense variant | G/A | snv |
|
0.700 | 1.000 | 3 | 1995 | 2007 | |||||||||||
|
0.925 | 0.080 | 1 | 17024040 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 3 | 2002 | 2012 | |||||||||
|
0.882 | 0.080 | 1 | 17033060 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 3 | 1990 | 2013 | |||||||
|
0.882 | 0.080 | 1 | 17022689 | frameshift variant | CT/- | delins | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2004 | 2014 | ||||||||
|
0.851 | 0.080 | 4 | 54733173 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 3 | 2007 | 2013 | |||||||||
|
1.000 | 0.040 | 4 | 54728096 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 2 | 2007 | 2011 |