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 | 0.120 | 16 | 89746848 | missense variant | T/C;G | snv | 8.7E-05 |
|
0.800 | 1.000 | 17 | 1997 | 2015 | ||||||||
|
0.925 | 0.120 | 16 | 89749806 | missense variant | G/A;T | snv | 2.0E-05; 1.2E-05 |
|
0.800 | 1.000 | 17 | 1997 | 2017 | ||||||||
|
0.925 | 0.120 | 16 | 89791459 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 |
|
0.800 | 1.000 | 16 | 1997 | 2016 | |||||||
|
0.925 | 0.120 | 16 | 89746890 | missense variant | T/C | snv | 2.5E-05 | 5.6E-05 |
|
0.800 | 1.000 | 14 | 1997 | 2012 | |||||||
|
0.925 | 0.120 | 16 | 89765062 | missense variant | T/G | snv | 1.2E-05 | 7.0E-06 |
|
0.800 | 1.000 | 13 | 1997 | 2018 | |||||||
|
16 | 89793345 | intron variant | T/C | snv | 7.8E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.040 | 16 | 89752324 | intron variant | C/G | snv | 4.7E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 16 | 89751681 | intron variant | A/G | snv | 0.54 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 16 | 89748744 | missense variant | G/A | snv | 5.1E-02 | 5.2E-02 |
|
0.710 | 1.000 | 2 | 2008 | 2013 | |||||||
|
0.925 | 0.120 | 16 | 89811060 | stop gained | G/A | snv |
|
0.710 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
1.000 | 0.120 | 16 | 89740024 | missense variant | A/G | snv |
|
0.700 | 1.000 | 11 | 1997 | 2009 | |||||||||
|
1.000 | 0.120 | 16 | 89749805 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 9 | 1997 | 2008 | ||||||||
|
1.000 | 0.120 | 16 | 89739220 | missense variant | C/T | snv |
|
0.700 | 1.000 | 9 | 1997 | 2008 | |||||||||
|
1.000 | 0.120 | 16 | 89739225 | missense variant | C/A | snv |
|
0.700 | 1.000 | 9 | 1997 | 2008 | |||||||||
|
1.000 | 0.120 | 16 | 89740848 | missense variant | A/G | snv |
|
0.700 | 1.000 | 9 | 1997 | 2008 | |||||||||
|
1.000 | 0.120 | 16 | 89767215 | missense variant | A/C;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 9 | 1997 | 2008 | ||||||||
|
1.000 | 0.120 | 16 | 89816592 | missense variant | G/A;C | snv | 5.0E-03 |
|
0.700 | 1.000 | 9 | 1997 | 2008 | ||||||||
|
1.000 | 0.120 | 16 | 89745063 | inframe deletion | CAC/- | delins |
|
0.700 | 1.000 | 7 | 1997 | 2015 | |||||||||
|
0.925 | 0.120 | 16 | 89746848 | missense variant | T/C;G | snv | 8.7E-05 |
|
0.700 | 1.000 | 7 | 1991 | 2012 | ||||||||
|
0.925 | 0.120 | 16 | 89738944 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 7 | 2005 | 2018 | |||||||
|
0.925 | 0.120 | 16 | 89761950 | missense variant | G/A;T | snv | 2.4E-05; 4.0E-06 |
|
0.700 | 1.000 | 7 | 2005 | 2016 | ||||||||
|
0.925 | 0.120 | 16 | 89805275 | splice region variant | C/A;T | snv | 1.6E-05 |
|
0.700 | 1.000 | 7 | 1999 | 2018 | ||||||||
|
0.925 | 0.120 | 16 | 89792034 | frameshift variant | CAAC/- | delins | 7.2E-05 | 5.6E-05 |
|
0.700 | 1.000 | 6 | 1996 | 2014 | |||||||
|
0.925 | 0.120 | 16 | 89761949 | missense variant | C/A;T | snv | 5.2E-05 |
|
0.700 | 1.000 | 6 | 2002 | 2016 | ||||||||
|
0.925 | 0.120 | 16 | 89761949 | missense variant | C/A;T | snv | 5.2E-05 |
|
0.700 | 1.000 | 6 | 2000 | 2015 |