| 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 | 0.120 | 1 | 45330557 | missense variant | C/A;T | snv | 4.2E-06; 4.2E-06 |
|
0.700 | 1.000 | 6 | 2006 | 2015 | ||||||||
|
0.807 | 0.160 | 1 | 17053947 | splice donor variant | C/A;T | snv | 1.2E-05; 4.1E-06 |
|
0.700 | 1.000 | 6 | 2006 | 2014 | ||||||||
|
0.925 | 0.120 | 1 | 45332440 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 6 | 2005 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 45331676 | stop gained | G/A | snv | 1.2E-05 |
|
0.700 | 1.000 | 6 | 2005 | 2011 | ||||||||
|
0.827 | 0.160 | 1 | 45332242 | missense variant | C/A;T | snv | 4.0E-06; 2.8E-05 |
|
0.700 | 1.000 | 6 | 2007 | 2015 | ||||||||
|
0.851 | 0.080 | 1 | 17044882 | stop gained | G/A;C | snv | 8.0E-06; 4.4E-05 |
|
0.700 | 1.000 | 6 | 2002 | 2015 | ||||||||
|
1.000 | 0.120 | 1 | 45332279 | missense variant | G/A | snv | 8.0E-06 |
|
0.700 | 1.000 | 6 | 2005 | 2016 | ||||||||
|
1.000 | 0.120 | 1 | 45332252 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 6 | 2006 | 2015 | |||||||
|
0.925 | 0.320 | 1 | 241513680 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 5 | 2002 | 2015 | ||||||||
|
0.925 | 0.320 | 1 | 241500572 | missense variant | A/G | snv | 7.3E-06 |
|
0.700 | 1.000 | 5 | 2006 | 2011 | ||||||||
|
0.882 | 0.120 | 1 | 45333171 | splice acceptor variant | C/G;T | snv |
|
0.700 | 1.000 | 5 | 2003 | 2013 | |||||||||
|
1.000 | 0.080 | 1 | 17033077 | missense variant | C/T | snv | 8.0E-06 | 3.5E-05 |
|
0.700 | 1.000 | 5 | 2005 | 2013 | |||||||
|
1.000 | 0.200 | 1 | 241504150 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 5 | 2008 | 2012 | ||||||||
|
0.882 | 0.080 | 1 | 17024025 | missense variant | G/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 5 | 2001 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 17044873 | frameshift variant | G/- | delins | 4.0E-06 |
|
0.700 | 1.000 | 5 | 2003 | 2015 | ||||||||
|
0.925 | 0.320 | 1 | 241504064 | frameshift variant | CATT/- | delins | 4.0E-06 |
|
0.700 | 1.000 | 5 | 2003 | 2015 | ||||||||
|
0.851 | 0.120 | 1 | 45333436 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 |
|
0.700 | 1.000 | 5 | 2009 | 2017 | |||||||
|
1 | 17022615 | missense variant | C/T | snv |
|
0.700 | 1.000 | 5 | 2005 | 2012 | |||||||||||
|
1 | 17022660 | frameshift variant | A/- | delins | 4.0E-06 |
|
0.700 | 1.000 | 5 | 2005 | 2015 | ||||||||||
|
0.827 | 0.280 | 1 | 17054017 | start lost | C/T | snv |
|
0.700 | 1.000 | 4 | 2009 | 2014 | |||||||||
|
0.882 | 0.160 | 1 | 45333449 | stop gained | G/A;T | snv | 1.4E-03; 1.2E-04 |
|
0.700 | 1.000 | 4 | 2002 | 2017 | ||||||||
|
0.882 | 0.120 | 1 | 45331558 | splice acceptor variant | T/C | snv | 2.4E-05 | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2004 | 2011 | |||||||
|
1.000 | 0.080 | 1 | 17033069 | missense variant | A/G | snv |
|
0.700 | 1.000 | 4 | 2007 | 2012 | |||||||||
|
0.925 | 0.320 | 1 | 241508652 | missense variant | T/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 1998 | 2012 | ||||||||
|
1.000 | 0.080 | 1 | 161314406 | start lost | A/G | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 4 | 2005 | 2013 |