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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.200 | 7 | 140734763 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 7 | 140734763 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 7 | 140734769 | splice acceptor variant | TCTACA/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 7 | 140739813 | missense variant | T/C | snv |
|
0.700 | 1.000 | 4 | 2006 | 2009 | |||||||||
|
0.807 | 0.280 | 7 | 140749365 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 8 | 1968 | 2013 | |||||||||
|
0.807 | 0.280 | 7 | 140749365 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 8 | 1968 | 2013 | |||||||||
|
0.807 | 0.280 | 7 | 140749365 | missense variant | A/C;T | snv |
|
0.800 | 1.000 | 5 | 2006 | 2014 | |||||||||
|
0.807 | 0.280 | 7 | 140749365 | missense variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.280 | 7 | 140749365 | missense variant | A/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 7 | 140749365 | missense variant | A/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 7 | 140749365 | missense variant | A/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 7 | 140749365 | missense variant | A/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 7 | 140753319 | missense variant | C/G | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.080 | 7 | 140753319 | missense variant | C/G | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.080 | 7 | 140753319 | missense variant | C/G | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 7 | 140753321 | missense variant | CT/AA | mnv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 7 | 140753321 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 7 | 140753332 | inframe deletion | TTT/- | del |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |