| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 7 | 2002 | 2019 | |||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.800 | 0.983 | 1 | 2004 | 2020 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.800 | 0.983 | 1 | 2004 | 2020 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 1 | 2002 | 2019 | ||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.800 | 0.983 | 1 | 2004 | 2020 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.790 | 1.000 | 17 | 2002 | 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 | |||||||||
|
0.827 | 0.120 | 7 | 55174015 | missense variant | G/A;C | snv |
|
0.740 | 1.000 | 17 | 1990 | 2019 | |||||||||
|
0.763 | 0.160 | 7 | 55181312 | missense variant | G/T | snv |
|
0.740 | 1.000 | 8 | 2004 | 2018 | |||||||||
|
0.790 | 0.120 | 7 | 55181312 | missense variant | GC/TT | mnv |
|
0.740 | 1.000 | 6 | 2004 | 2018 | |||||||||
|
0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv |
|
0.720 | 1.000 | 3 | 1995 | 2016 | |||||||||
|
0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.720 | 1.000 | 3 | 2002 | 2018 | ||||||||
|
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 | 12 | 25245348 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 3 | 2002 | 2013 | |||||||||
|
0.807 | 0.320 | 15 | 66435145 | missense variant | G/A | snv |
|
0.710 | 1.000 | 2 | 2007 | 2016 | |||||||||
|
0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2002 | 2015 | |||||||||
|
0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 12 | 2004 | 2014 | |||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 11 | 2004 | 2012 | ||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 11 | 2004 | 2012 | ||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 9 | 1984 | 2014 | |||||||||
|
0.925 | 0.160 | 11 | 533881 | missense variant | C/T | snv |
|
0.700 | 1.000 | 9 | 1982 | 2011 | |||||||||
|
0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 7 | 1998 | 2010 | |||||||||
|
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 |