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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 3 | 179234358 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 45331512 | frameshift variant | -/TC | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
3 | 41224630 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
0.851 | 0.080 | 10 | 121520119 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 0 | 2015 | 2015 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 2 | 201205929 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 1 | 45333171 | splice acceptor variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.700 | 1.000 | 23 | 2002 | 2014 | |||||||
|
0.752 | 0.440 | 10 | 121517390 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.440 | 10 | 121517371 | synonymous variant | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 5 | 112838793 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 1 | 45332445 | missense variant | C/T | snv | 8.4E-05 | 8.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.480 | 10 | 121515254 | missense variant | C/T | snv |
|
0.700 | 0 |