| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 50342917 | splice donor variant | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2013 | 2013 | ||||||||||
|
5 | 13753490 | missense variant | G/A | snv | 2.0E-05 | 3.5E-05 |
|
0.700 | 1.000 | 2 | 2009 | 2013 | |||||||||
|
0.925 | 0.160 | 3 | 50345533 | splice donor variant | A/C | snv | 2.7E-04 | 2.1E-04 |
|
0.700 | 1.000 | 2 | 2013 | 2013 | |||||||
|
16 | 84174723 | splice donor variant | G/A | snv | 4.2E-04 | 4.0E-04 |
|
0.700 | 1.000 | 2 | 2009 | 2009 | |||||||||
|
0.925 | 0.160 | 19 | 48303953 | missense variant | C/T | snv | 2.4E-04 | 2.2E-04 |
|
0.700 | 1.000 | 2 | 2013 | 2013 | |||||||
|
5 | 13718880 | splice donor variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2002 | 2006 | |||||||||||
|
5 | 13841895 | stop gained | G/A;C;T | snv | 2.2E-05; 8.0E-04; 4.3E-06 |
|
0.700 | 1.000 | 2 | 2006 | 2009 | ||||||||||
|
5 | 13714621 | splice acceptor variant | C/G | snv |
|
0.700 | 1.000 | 2 | 2002 | 2006 | |||||||||||
|
5 | 13770982 | splice acceptor variant | T/A | snv |
|
0.700 | 1.000 | 2 | 2002 | 2006 | |||||||||||
|
5 | 13894822 | splice acceptor variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2002 | 2006 | |||||||||||
|
1.000 | 0.160 | 9 | 34514468 | stop gained | G/A | snv | 3.6E-05 | 5.6E-05 |
|
0.700 | 1.000 | 2 | 2006 | 2011 | |||||||
|
7 | 21702773 | stop gained | C/A;T | snv | 3.6E-05 |
|
0.700 | 1.000 | 2 | 2012 | 2015 | ||||||||||
|
3 | 180642072 | stop gained | G/A;T | snv | 7.6E-05; 8.1E-06 |
|
0.700 | 1.000 | 2 | 2013 | 2014 | ||||||||||
|
5 | 13922330 | splice acceptor variant | T/C | snv | 2.4E-05 |
|
0.700 | 1.000 | 2 | 2002 | 2006 | ||||||||||
|
1.000 | 0.160 | 5 | 13788721 | missense variant | G/C | snv | 1.6E-05 | 2.1E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2015 | |||||||
|
17 | 80086207 | stop gained | C/G;T | snv | 8.8E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
3 | 180644119 | splice donor variant | C/T | snv | 6.8E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
5 | 13883096 | splice acceptor variant | T/G | snv |
|
0.700 | 1.000 | 2 | 2002 | 2006 | |||||||||||
|
7 | 756995 | splice donor variant | G/A;T | snv | 4.7E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||||
|
5 | 13928180 | splice acceptor variant | T/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2002 | 2006 | ||||||||||
|
0.882 | 0.160 | 5 | 13865675 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
9 | 34514527 | missense variant | G/C | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 1.000 | 2 | 2001 | 2008 | |||||||||
|
5 | 13830675 | stop gained | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
1.000 | 0.160 | 9 | 34513165 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 |
|
0.700 | 1.000 | 2 | 2001 | 2010 | |||||||
|
5 | 13708337 | splice acceptor variant | T/G | snv |
|
0.700 | 1.000 | 2 | 2002 | 2006 |