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 | 3 | 41233777 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 3 | 41224631 | missense variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2011 | 2014 | |||||||||
|
0.925 | 0.040 | 3 | 41234286 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | 3 | 41238542 | intron variant | A/G | snv | 3.7E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 3 | 41238542 | intron variant | A/G | snv | 3.7E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 3 | 41238542 | intron variant | A/G | snv | 3.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 3 | 41224664 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv |
|
0.030 | 1.000 | 3 | 2007 | 2012 | |||||||||
|
0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv |
|
0.710 | 1.000 | 1 | 2009 | 2014 | |||||||||
|
0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.810 | 1.000 | 1 | 2000 | 2016 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 |