| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 19 | 40235953 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 7 | 2002 | 2010 | |||||||||
|
0.882 | 0.080 | 7 | 140753338 | inframe insertion | -/TAG | delins | 4.0E-06 |
|
0.700 | 1.000 | 6 | 2009 | 2012 | ||||||||
|
0.790 | 0.280 | 7 | 140753346 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2004 | 2012 | ||||||||
|
0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 3 | 2002 | 2010 | |||||||||
|
0.776 | 0.240 | 7 | 140781611 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2002 | 2014 | ||||||||
|
0.925 | 0.160 | 7 | 140781612 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2003 | 2004 | |||||||||
|
0.776 | 0.280 | 7 | 140753337 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2004 | 2005 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 1 | 2002 | 2019 | ||||||||
|
0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.720 | 1.000 | 1 | 2002 | 2019 | ||||||||
|
0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2002 | 2015 | |||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.080 | 7 | 140753334 | inframe deletion | TCA/- | del |
|
0.700 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.763 | 0.360 | 7 | 140753393 | missense variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 7 | 140781601 | inframe deletion | TCC/- | del |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 7 | 55174015 | missense variant | G/A;C | snv |
|
0.740 | 1.000 | 17 | 1990 | 2019 | |||||||||
|
0.807 | 0.120 | 7 | 55174014 | missense variant | G/A;C;T | snv |
|
0.750 | 1.000 | 16 | 2004 | 2019 | |||||||||
|
0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv |
|
0.750 | 1.000 | 6 | 2004 | 2020 | |||||||||
|
0.882 | 0.160 | 7 | 55174818 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 5 | 2006 | 2014 | |||||||||
|
0.925 | 0.080 | 7 | 55174785 | missense variant | G/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
1.000 | 0.080 | 7 | 55174794 | missense variant | C/T | snv | 8.0E-06 |
|
0.700 | 1.000 | 2 | 2007 | 2014 | ||||||||
|
1.000 | 0.080 | 7 | 55174737 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2010 | 2014 | |||||||||
|
1.000 | 0.080 | 7 | 55174740 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.925 | 0.120 | 7 | 55174735 | missense variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 |