| 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 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 7 | 1997 | 2004 | |||||||||
|
0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 7 | 1997 | 2004 | |||||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.860 | 1.000 | 7 | 2010 | 2015 | ||||||||
|
0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv |
|
0.720 | 1.000 | 6 | 1986 | 2019 | |||||||||
|
0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 |
|
0.060 | 1.000 | 6 | 2010 | 2017 | ||||||||
|
0.925 | 0.120 | 16 | 89689495 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 6 | 2009 | 2017 | |||||||||
|
0.851 | 0.200 | 9 | 21970982 | missense variant | A/T | snv |
|
0.050 | 1.000 | 5 | 1999 | 2015 | |||||||||
|
0.827 | 0.200 | 12 | 57751647 | missense variant | C/A;T | snv |
|
0.740 | 0.600 | 5 | 2003 | 2014 | |||||||||
|
0.925 | 0.040 | 15 | 66436816 | missense variant | G/C | snv |
|
0.720 | 1.000 | 5 | 2011 | 2014 | |||||||||
|
0.827 | 0.280 | 15 | 66436825 | missense variant | C/A;G;T | snv |
|
0.720 | 1.000 | 5 | 2009 | 2015 | |||||||||
|
0.790 | 0.160 | 9 | 21816529 | intron variant | A/G | snv | 0.50 |
|
0.810 | 1.000 | 5 | 2009 | 2017 | ||||||||
|
0.851 | 0.160 | 11 | 89277878 | intron variant | G/A | snv | 0.17 |
|
0.800 | 1.000 | 4 | 2009 | 2017 | ||||||||
|
1.000 | 0.040 | 21 | 41374154 | intron variant | C/T | snv | 0.48 |
|
0.820 | 1.000 | 4 | 2011 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 54728096 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 3 | 2011 | 2014 | |||||||||
|
0.925 | 0.160 | 7 | 140753355 | missense variant | CA/TC | mnv |
|
0.700 | 1.000 | 3 | 2002 | 2010 | |||||||||
|
0.827 | 0.160 | 15 | 66436824 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 3 | 2009 | 2012 | |||||||||
|
1.000 | 0.040 | 15 | 66481793 | missense variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2009 | 2013 | |||||||||
|
0.851 | 0.080 | 9 | 77794572 | missense variant | TG/AA | mnv |
|
0.030 | 1.000 | 3 | 2012 | 2018 | |||||||||
|
0.925 | 0.200 | 7 | 140753353 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 3 | 2002 | 2014 | |||||||||
|
1.000 | 0.040 | 20 | 34767243 | intron variant | G/A | snv | 0.93 |
|
0.720 | 1.000 | 3 | 2008 | 2014 | ||||||||
|
0.851 | 0.200 | 9 | 21974686 | missense variant | G/A;T | snv |
|
0.030 | 0.667 | 3 | 2006 | 2008 | |||||||||
|
0.882 | 0.160 | 20 | 34583968 | intron variant | G/A;C | snv |
|
0.810 | 0.667 | 3 | 2008 | 2017 | |||||||||
|
0.925 | 0.040 | 19 | 7909761 | missense variant | A/G | snv |
|
0.020 | 1.000 | 2 | 2005 | 2015 | |||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
1.000 | 0.040 | 4 | 54727418 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2014 | 2014 |