| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 16 | 68823566 | stop gained | G/A;C;T | snv | 1.7E-04; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 68833344 | missense variant | G/A;C | snv | 1.7E-04; 4.0E-06 |
|
0.700 | 1.000 | 2 | 1999 | 2002 | ||||||||
|
1.000 | 0.080 | 16 | 68812149 | stop gained | T/C;G | snv | 3.6E-05 |
|
0.700 | 1.000 | 5 | 2010 | 2018 | ||||||||
|
1.000 | 0.080 | 16 | 68811854 | stop gained | C/G;T | snv | 1.6E-05; 8.0E-06 |
|
0.710 | 1.000 | 3 | 2005 | 2013 | ||||||||
|
0.925 | 0.080 | 16 | 68810290 | stop gained | G/A;T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 68828204 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 4 | 2004 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 68810302 | stop gained | G/A;C;T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 68819283 | stop gained | T/A;C | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 68808692 | splice acceptor variant | G/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2004 | 2010 | ||||||||
|
1.000 | 0.080 | 16 | 68801843 | stop gained | A/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 68823404 | stop gained | G/C;T | snv | 4.0E-06 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 16 | 68823557 | stop gained | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 68801789 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 16 | 68829739 | frameshift variant | -/C | delins | 4.0E-06 |
|
0.700 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
1.000 | 0.080 | 16 | 68812264 | splice donor variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 11 | 1999 | 2018 | |||||||
|
1.000 | 0.080 | 16 | 68828296 | stop gained | G/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 9 | 2004 | 2014 | ||||||||
|
1.000 | 0.080 | 16 | 68822210 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 16 | 68819393 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.720 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
0.925 | 0.080 | 16 | 68810224 | missense variant | G/A | snv |
|
0.700 | 1.000 | 12 | 2006 | 2019 | |||||||||
|
1.000 | 0.080 | 16 | 68812263 | splice region variant | G/A;T | snv |
|
0.700 | 1.000 | 11 | 2006 | 2016 | |||||||||
|
1.000 | 0.080 | 16 | 68815760 | splice donor variant | G/A;C;T | snv |
|
0.700 | 1.000 | 10 | 2002 | 2016 | |||||||||
|
1.000 | 0.080 | 16 | 68815760 | splice donor variant | G/- | del |
|
0.700 | 1.000 | 8 | 2002 | 2016 | |||||||||
|
0.851 | 0.160 | 16 | 68822081 | stop gained | C/G;T | snv |
|
0.700 | 1.000 | 8 | 1998 | 2015 | |||||||||
|
1.000 | 0.080 | 16 | 68811682 | splice acceptor variant | A/G | snv |
|
0.700 | 1.000 | 7 | 2008 | 2012 | |||||||||
|
1.000 | 0.080 | 16 | 68737418 | start lost | G/A | snv |
|
0.700 | 1.000 | 7 | 1990 | 2017 |