| 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 | 0.200 | 13 | 20189359 | missense variant | G/A;C | snv |
|
0.720 | 1.000 | 2 | 2000 | 2001 | |||||||||
|
1.000 | 0.120 | 5 | 146340095 | missense variant | T/C | snv |
|
0.020 | 1.000 | 2 | 2008 | 2009 | |||||||||
|
0.776 | 0.200 | 13 | 20189358 | missense variant | C/T | snv | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2002 | 2014 | ||||||||
|
5 | 76625147 | intron variant | A/G | snv | 0.65 |
|
0.810 | 1.000 | 2 | 2010 | 2016 | ||||||||||
|
1.000 | 0.080 | X | 71223772 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
19 | 40856388 | intron variant | C/T | snv | 8.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.882 | 0.240 | X | 71223930 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
3 | 121993482 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
0.925 | 0.120 | 6 | 73482214 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
1.000 | 0.120 | 3 | 7114015 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.120 | 9 | 72816161 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
13 | 20189542 | missense variant | T/C | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||||
|
1.000 | 0.080 | 11 | 2445213 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.120 | 17 | 81511626 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
21 | 42736981 | intron variant | T/A;G | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.925 | 0.080 | 1 | 34784863 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.851 | 0.200 | 13 | 20223218 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.790 | 0.360 | 4 | 6301846 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.120 | 3 | 121993614 | stop gained | C/A | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.280 | 2 | 169196995 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.240 | X | 107640938 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.240 | X | 107650000 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
20 | 18726094 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.807 | 0.360 | 4 | 6302385 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
3 | 69879304 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 |