| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.750 | 1.000 | 7 | 2002 | 2015 | ||||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.730 | 1.000 | 0 | 2006 | 2010 | ||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 8 | 2005 | 2011 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.710 | 1.000 | 2 | 2005 | 2016 | ||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.710 | 1.000 | 2 | 2005 | 2016 | ||||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.710 | 1.000 | 0 | 2011 | 2011 | ||||||||
|
0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv |
|
0.710 | 1.000 | 0 | 1998 | 1998 | |||||||||
|
0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 |
|
0.710 | 1.000 | 0 | 2012 | 2012 | ||||||||
|
0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv |
|
0.710 | 1.000 | 0 | 2017 | 2017 | |||||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
0.700 | 1.000 | 12 | 2005 | 2016 | |||||||
|
0.882 | 0.280 | 17 | 61780325 | stop gained | G/A;T | snv | 1.6E-05; 2.0E-05 |
|
0.700 | 1.000 | 5 | 2014 | 2016 | ||||||||
|
0.882 | 0.280 | 17 | 61744433 | frameshift variant | TT/- | delins | 1.2E-05 | 3.5E-05 |
|
0.700 | 1.000 | 5 | 2005 | 2016 | |||||||
|
0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 4 | 2002 | 2012 | |||||||||
|
0.732 | 0.240 | 3 | 179218307 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 4 | 2006 | 2010 | |||||||||
|
0.851 | 0.320 | 17 | 61776459 | frameshift variant | AA/-;AAAA | delins |
|
0.700 | 1.000 | 4 | 2015 | 2016 | |||||||||
|
0.882 | 0.280 | 17 | 61799125 | stop gained | G/A;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 4 | 2016 | 2017 | ||||||||
|
0.882 | 0.280 | 17 | 61683850 | frameshift variant | A/- | del | 2.0E-05 | 5.6E-05 |
|
0.700 | 1.000 | 4 | 2010 | 2015 | |||||||
|
0.925 | 0.240 | 17 | 61683805 | frameshift variant | -/A | delins | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2010 | 2016 | ||||||||
|
0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 3 | 2001 | 2010 | ||||||||
|
0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 3 | 2001 | 2010 | |||||||||
|
0.882 | 0.280 | 17 | 61685976 | stop gained | A/C | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 3 | 2015 | 2016 | |||||||
|
0.882 | 0.280 | 17 | 61684053 | frameshift variant | TGTT/-;TGTTTGTT | delins | 2.1E-05 |
|
0.700 | 1.000 | 3 | 2008 | 2016 | ||||||||
|
0.925 | 0.240 | 17 | 61808495 | frameshift variant | T/- | delins |
|
0.700 | 1.000 | 3 | 2015 | 2016 | |||||||||
|
0.925 | 0.240 | 17 | 61684051 | frameshift variant | CTTT/- | delins | 1.6E-05 | 2.8E-05 |
|
0.700 | 1.000 | 3 | 2008 | 2018 | |||||||
|
0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins |
|
0.700 | 1.000 | 2 | 2011 | 2016 |