| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.200 | 13 | 20189481 | missense variant | A/C;G | snv | 8.7E-03 |
|
0.740 | 0.833 | 2 | 2001 | 2012 | ||||||||
|
0.925 | 0.160 | 15 | 72347711 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.160 | 15 | 72345518 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 11 | 2445213 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.320 | 2 | 171443559 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.280 | 13 | 20189443 | stop gained | C/A;T | snv | 1.3E-04; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 13 | 20189359 | missense variant | G/A;C | snv |
|
0.720 | 1.000 | 0 | 2000 | 2001 | |||||||||
|
0.925 | 0.120 | 13 | 20189450 | stop gained | C/G;T | snv | 2.8E-05 |
|
0.710 | 1.000 | 0 | 2001 | 2001 | ||||||||
|
0.742 | 0.280 | 13 | 20189548 | missense variant | C/A;G | snv | 5.1E-04 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.120 | 13 | 20189332 | missense variant | C/A;G;T | snv | 1.6E-05; 3.6E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 10 | 53995732 | stop gained | G/A;C | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 107663412 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 107710192 | stop gained | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 13 | 20189523 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 3 | 69959325 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins |
|
0.700 | 0 | ||||||||||||
|
2 | 26476319 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||||
|
0.882 | 0.120 | 12 | 47984112 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | X | 110264571 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.080 | 9 | 87969919 | stop gained | C/G;T | snv | 4.9E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 10 | 71617295 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 13 | 20189487 | missense variant | C/A;T | snv | 3.2E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 107690203 | missense variant | C/G;T | snv | 4.0E-06; 1.8E-04 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 13 | 20189217 | missense variant | T/A;G | snv | 6.0E-05 |
|
0.700 | 0 |