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 | 0.160 | 2 | 47795903 | stop gained | C/G | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 14 | 1999 | 2015 | |||||||
|
0.925 | 0.160 | 2 | 47806588 | stop gained | -/TCAAAAGGGACATAGAAAA | delins | 7.0E-06 |
|
0.700 | 1.000 | 13 | 2005 | 2016 | ||||||||
|
0.851 | 0.240 | 2 | 47800714 | stop gained | C/A;T | snv | 1.4E-05 |
|
0.700 | 1.000 | 13 | 2003 | 2017 | ||||||||
|
0.827 | 0.240 | 2 | 47803449 | stop gained | C/A;G;T | snv |
|
0.700 | 1.000 | 12 | 2002 | 2018 | |||||||||
|
0.851 | 0.240 | 2 | 47800714 | stop gained | C/A;T | snv | 1.4E-05 |
|
0.700 | 1.000 | 12 | 2003 | 2017 | ||||||||
|
0.925 | 0.160 | 2 | 47806641 | stop gained | C/A;T | snv | 4.1E-06; 4.1E-06 |
|
0.700 | 1.000 | 11 | 2005 | 2016 | ||||||||
|
0.925 | 0.160 | 2 | 47806641 | stop gained | C/A;T | snv | 4.1E-06; 4.1E-06 |
|
0.700 | 1.000 | 10 | 2005 | 2016 | ||||||||
|
0.925 | 0.160 | 2 | 47806641 | stop gained | C/A;T | snv | 4.1E-06; 4.1E-06 |
|
0.700 | 1.000 | 9 | 2006 | 2016 | ||||||||
|
0.925 | 0.160 | 2 | 47799427 | stop gained | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 9 | 2004 | 2017 | ||||||||
|
0.882 | 0.160 | 2 | 47795903 | stop gained | C/G | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 8 | 1999 | 2014 | |||||||
|
0.851 | 0.200 | 2 | 47800966 | stop gained | G/A;C;T | snv |
|
0.700 | 1.000 | 8 | 2001 | 2015 | |||||||||
|
0.925 | 0.160 | 2 | 47806588 | stop gained | -/TCAAAAGGGACATAGAAAA | delins | 7.0E-06 |
|
0.700 | 1.000 | 7 | 2003 | 2016 | ||||||||
|
0.882 | 0.200 | 2 | 47800177 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 7 | 2004 | 2017 | ||||||||
|
0.882 | 0.160 | 2 | 47795903 | stop gained | C/G | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 6 | 1999 | 2018 | |||||||
|
0.851 | 0.240 | 2 | 47801086 | stop gained | C/T | snv | 1.2E-05 |
|
0.700 | 1.000 | 6 | 1999 | 2016 | ||||||||
|
0.827 | 0.240 | 2 | 47783243 | stop gained | C/G;T | snv | 2.5E-05 |
|
0.700 | 1.000 | 6 | 2010 | 2018 | ||||||||
|
1.000 | 0.160 | 2 | 47800747 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 5 | 2011 | 2016 | ||||||||
|
1.000 | 0.160 | 2 | 47804946 | stop gained | -/A | delins |
|
0.700 | 1.000 | 5 | 2011 | 2017 | |||||||||
|
0.827 | 0.240 | 2 | 47803449 | stop gained | C/A;G;T | snv |
|
0.700 | 1.000 | 5 | 2002 | 2014 | |||||||||
|
0.925 | 0.160 | 2 | 47799427 | stop gained | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 5 | 2004 | 2012 | ||||||||
|
0.851 | 0.240 | 2 | 47800714 | stop gained | C/A;T | snv | 1.4E-05 |
|
0.700 | 1.000 | 5 | 2003 | 2013 | ||||||||
|
0.882 | 0.200 | 2 | 47800177 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 5 | 2004 | 2016 | ||||||||
|
2 | 47783453 | stop gained | G/T | snv |
|
0.700 | 1.000 | 4 | 2006 | 2015 | |||||||||||
|
2 | 47783453 | stop gained | G/T | snv |
|
0.700 | 1.000 | 4 | 2006 | 2015 | |||||||||||
|
1.000 | 0.160 | 2 | 47801125 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2010 | 2015 |