| 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 | 5 | 112819272 | missense variant | C/A;G;T | snv | 4.0E-06; 6.7E-04 |
|
0.700 | 1.000 | 20 | 1991 | 2017 | ||||||||
|
1.000 | 0.120 | 5 | 112839469 | missense variant | C/T | snv | 8.8E-05 | 1.0E-04 |
|
0.700 | 1.000 | 20 | 1991 | 2017 | |||||||
|
1.000 | 0.120 | 5 | 112839531 | missense variant | A/G | snv |
|
0.700 | 1.000 | 20 | 1991 | 2017 | |||||||||
|
0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 |
|
0.710 | 1.000 | 16 | 1992 | 2009 | ||||||||
|
0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv |
|
0.710 | 1.000 | 12 | 1992 | 2014 | |||||||||
|
1.000 | 0.120 | 5 | 112767263 | missense variant | C/A;T | snv | 4.0E-06; 3.9E-04 |
|
0.700 | 1.000 | 11 | 1991 | 2016 | ||||||||
|
0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv |
|
0.700 | 1.000 | 10 | 1992 | 2016 | |||||||||
|
0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 |
|
0.070 | 1.000 | 7 | 2001 | 2019 | ||||||||
|
0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv |
|
0.700 | 1.000 | 6 | 1992 | 2011 | |||||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.060 | 1.000 | 6 | 1998 | 2015 | |||||||
|
0.925 | 0.120 | 5 | 112834949 | splice acceptor variant | A/G;T | snv |
|
0.700 | 1.000 | 6 | 1997 | 2013 | |||||||||
|
0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 |
|
0.040 | 1.000 | 4 | 2007 | 2015 | |||||||
|
1.000 | 0.120 | 5 | 112827106 | splice acceptor variant | A/C;G;T | snv |
|
0.700 | 1.000 | 3 | 2004 | 2017 | |||||||||
|
0.827 | 0.200 | 5 | 112827951 | missense variant | G/A;C | snv | 3.2E-05 |
|
0.030 | 1.000 | 3 | 2003 | 2008 | ||||||||
|
0.925 | 0.120 | 5 | 112838880 | stop gained | C/T | snv |
|
0.700 | 1.000 | 3 | 1999 | 2009 | |||||||||
|
1.000 | 0.120 | 5 | 112792444 | splice acceptor variant | A/G;T | snv |
|
0.700 | 1.000 | 3 | 2010 | 2015 | |||||||||
|
0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv |
|
0.730 | 1.000 | 3 | 2000 | 2016 | |||||||||
|
0.925 | 0.120 | 5 | 112775693 | stop gained | C/T | snv |
|
0.700 | 1.000 | 3 | 1998 | 2006 | |||||||||
|
0.827 | 0.120 | 5 | 112827194 | stop gained | C/G;T | snv | 2.8E-05 |
|
0.720 | 1.000 | 2 | 2000 | 2012 | ||||||||
|
0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 |
|
0.700 | 1.000 | 2 | 2008 | 2015 | ||||||||
|
0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.720 | 1.000 | 2 | 2000 | 2012 | ||||||||
|
1.000 | 0.120 | 5 | 112843456 | missense variant | C/G | snv | 2.9E-03 | 3.5E-03 |
|
0.720 | 1.000 | 2 | 1997 | 2001 | |||||||
|
1.000 | 0.120 | 5 | 112840425 | stop gained | C/G;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 2 | 2003 | 2010 | ||||||||
|
0.925 | 0.120 | 5 | 112819026 | stop gained | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2000 | 2005 | |||||||||
|
0.925 | 0.200 | 5 | 112767213 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |