| 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 |
|
0.900 | 0.975 | 160 | 2004 | 2020 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 0.973 | 149 | 2004 | 2020 | |||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.100 | 0.853 | 34 | 1997 | 2017 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.806 | 31 | 2002 | 2019 | |||||||||
|
0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv |
|
0.900 | 0.964 | 28 | 2007 | 2019 | |||||||||
|
0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv |
|
0.100 | 0.913 | 23 | 2008 | 2019 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.727 | 22 | 2006 | 2019 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.750 | 20 | 2006 | 2018 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.750 | 20 | 2006 | 2018 | |||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.100 | 0.800 | 15 | 2005 | 2019 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.100 | 0.929 | 14 | 2003 | 2019 | ||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.800 | 1.000 | 14 | 2002 | 2015 | ||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 0.923 | 13 | 1999 | 2020 | ||||||||
|
0.807 | 0.480 | 2 | 47800616 | missense variant | T/C;G | snv | 5.1E-03 |
|
0.710 | 1.000 | 13 | 1999 | 2012 | ||||||||
|
0.925 | 0.160 | 2 | 47806838 | missense variant | T/A;C | snv |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||||
|
1.000 | 0.080 | 2 | 47804943 | missense variant | T/C | snv |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||||
|
1.000 | 0.080 | 2 | 47801045 | missense variant | C/A;G | snv | 8.4E-06 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 47800037 | missense variant | G/C | snv |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||||
|
0.925 | 0.160 | 2 | 47800532 | missense variant | A/G | snv | 8.0E-06 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 47803546 | missense variant | C/G;T | snv | 7.6E-05; 4.0E-05 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
0.851 | 0.160 | 2 | 47803473 | missense variant | C/G;T | snv | 4.0E-06; 9.5E-05 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 47800343 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||||
|
0.882 | 0.200 | 2 | 47783292 | missense variant | C/A;T | snv | 4.1E-06; 9.4E-05 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
0.827 | 0.200 | 2 | 47799329 | missense variant | T/C | snv | 1.2E-05 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
1.000 | 0.080 | 8 | 17589479 | missense variant | C/T | snv |
|
0.800 | 1.000 | 11 | 1995 | 2015 |