| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 1.000 | 21 | 2003 | 2019 | |||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.020 | 1.000 | 2 | 2003 | 2005 | |||||||||
|
0.925 | 0.120 | 11 | 1759567 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.752 | 0.160 | 15 | 90088605 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.776 | 0.120 | 11 | 533873 | missense variant | CT/AC;TC | mnv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.742 | 0.280 | 9 | 21971120 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
7 | 116777427 | missense variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2002 | 2002 | |||||||||||
|
0.882 | 0.200 | 19 | 1207169 | stop gained | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.763 | 0.400 | 7 | 5978664 | missense variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 1 | 193125142 | stop gained | C/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.120 | 7 | 116783420 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.827 | 0.200 | 7 | 116783360 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
1.000 | 0.120 | 4 | 1806604 | missense variant | G/T | snv |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.851 | 0.240 | 4 | 1804365 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2002 | 2002 |