| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 5 | 13793709 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.160 | 17 | 44902549 | missense variant | A/C | snv | 1.2E-03 | 1.3E-03 |
|
0.700 | 1.000 | 6 | 2012 | 2018 | |||||||
|
1.000 | 0.160 | 9 | 34459054 | splice donor variant | -/T | delins |
|
0.700 | 1.000 | 6 | 1999 | 2018 | |||||||||
|
0.925 | 0.160 | 21 | 42493049 | stop gained | C/A;T | snv | 2.6E-04; 2.0E-05 |
|
0.700 | 1.000 | 4 | 2013 | 2015 | ||||||||
|
1.000 | 0.160 | 5 | 13753290 | frameshift variant | A/- | del | 1.6E-04 | 2.1E-04 |
|
0.700 | 1.000 | 4 | 2006 | 2014 | |||||||
|
1.000 | 0.160 | 5 | 13839530 | splice acceptor variant | T/C | snv | 4.0E-05 | 2.8E-05 |
|
0.700 | 1.000 | 4 | 2002 | 2016 | |||||||
|
0.925 | 0.160 | 21 | 42486463 | splice acceptor variant | T/G | snv | 3.7E-04 | 4.7E-04 |
|
0.700 | 1.000 | 3 | 2013 | 2014 | |||||||
|
1.000 | 0.160 | 5 | 13701289 | stop gained | G/A | snv | 6.0E-05 | 6.3E-05 |
|
0.700 | 1.000 | 3 | 2006 | 2015 | |||||||
|
1.000 | 0.160 | 7 | 21749702 | stop gained | C/T | snv | 4.4E-05 | 7.7E-05 |
|
0.700 | 1.000 | 3 | 2012 | 2015 | |||||||
|
0.925 | 0.160 | 6 | 43670918 | inframe insertion | GAA/-;GAAGAA | delins | 4.2E-05 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
1.000 | 0.160 | 5 | 13758881 | stop gained | G/A | snv | 5.2E-05 | 4.2E-05 |
|
0.700 | 1.000 | 3 | 2012 | 2014 | |||||||
|
0.925 | 0.160 | 5 | 55233261 | frameshift variant | -/CGGGC;CGGGCCGGGC | delins |
|
0.700 | 1.000 | 3 | 2014 | 2016 | |||||||||
|
1.000 | 0.160 | 17 | 74309345 | stop gained | G/A;C | snv | 1.6E-04; 4.0E-06 |
|
0.700 | 1.000 | 3 | 2013 | 2015 | ||||||||
|
1.000 | 0.160 | 5 | 13830026 | missense variant | C/T | snv | 2.0E-05 | 5.6E-05 |
|
0.700 | 1.000 | 3 | 1990 | 2013 | |||||||
|
0.925 | 0.160 | 12 | 48918751 | frameshift variant | AT/- | delins |
|
0.700 | 1.000 | 3 | 2013 | 2015 | |||||||||
|
1.000 | 0.160 | 5 | 13776447 | frameshift variant | A/- | delins | 1.2E-05 |
|
0.700 | 1.000 | 2 | 2002 | 2006 | ||||||||
|
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 | |||||||
|
0.925 | 0.160 | 19 | 48303953 | missense variant | C/T | snv | 2.4E-04 | 2.2E-04 |
|
0.700 | 1.000 | 2 | 2013 | 2013 | |||||||
|
1.000 | 0.160 | 9 | 34514468 | stop gained | G/A | snv | 3.6E-05 | 5.6E-05 |
|
0.700 | 1.000 | 2 | 2006 | 2011 | |||||||
|
1.000 | 0.160 | 5 | 13788721 | missense variant | G/C | snv | 1.6E-05 | 2.1E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2015 | |||||||
|
1.000 | 0.160 | 5 | 13791995 | frameshift variant | TTTGGTTC/- | del | 2.0E-05 | 1.4E-05 |
|
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 | ||||||||
|
1.000 | 0.160 | 9 | 34513165 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 |
|
0.700 | 1.000 | 2 | 2001 | 2010 |