| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | 17 | 7675052 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.360 | 17 | 7673821 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv |
|
0.800 | 1.000 | 22 | 1994 | 2020 | |||||||||
|
0.827 | 0.200 | 17 | 7673608 | missense variant | G/A;C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 3 | 2004 | 2016 | ||||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 3 | 2004 | 2016 | ||||||||
|
0.724 | 0.400 | 17 | 7674238 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 2 | 2004 | 2016 | |||||||||
|
1.000 | 0.080 | 17 | 7674239 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.867 | 15 | 2005 | 2017 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.857 | 14 | 2005 | 2017 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.857 | 14 | 2005 | 2017 | |||||||||
|
0.732 | 0.320 | 17 | 7674237 | missense variant | G/A;C | snv |
|
0.710 | 0.500 | 2 | 2009 | 2016 | |||||||||
|
0.882 | 0.120 | 17 | 7673255 | synonymous variant | G/A | snv | 5.3E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.683 | 0.400 | 17 | 7675143 | missense variant | C/A;T | snv | 4.0E-05 |
|
0.720 | 1.000 | 2 | 2011 | 2011 | ||||||||
|
0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.710 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 |
|
0.710 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.360 | 17 | 7673797 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.360 | 17 | 7673763 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.732 | 0.240 | 17 | 7674233 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |