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 | 7 | 66995298 | frameshift variant | C/- | delins |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.040 | 7 | 66994211 | splice donor variant | C/G | snv | 4.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.040 | 7 | 66994211 | splice donor variant | C/G | snv | 4.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 |
|
0.700 | 0 | |||||||||||
|
1.000 | 7 | 66993376 | frameshift variant | CTTT/- | delins | 1.4E-05 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 7 | 66993299 | missense variant | C/G | snv | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 7 | 66991136 | splice donor variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 7 | 66988472 | stop gained | G/A | snv | 8.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 7 | 66994286 | stop gained | T/A | snv | 1.7E-04 | 1.0E-03 |
|
0.700 | 0 | |||||||||||
|
0.925 | 7 | 66994286 | stop gained | T/A | snv | 1.7E-04 | 1.0E-03 |
|
0.700 | 0 | |||||||||||
|
0.925 | 7 | 66994286 | stop gained | T/A | snv | 1.7E-04 | 1.0E-03 |
|
0.700 | 0 | |||||||||||
|
0.925 | 7 | 66994286 | stop gained | T/A | snv | 1.7E-04 | 1.0E-03 |
|
0.700 | 0 | |||||||||||
|
0.925 | 7 | 66994286 | stop gained | T/A | snv | 1.7E-04 | 1.0E-03 |
|
0.700 | 0 | |||||||||||
|
0.925 | 7 | 66994286 | stop gained | T/A | snv | 1.7E-04 | 1.0E-03 |
|
0.700 | 0 | |||||||||||
|
1.000 | 7 | 66993288 | missense variant | C/A;T | snv | 1.2E-05; 9.1E-05 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 7 | 66995320 | missense variant | T/C;G | snv | 6.0E-05 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 7 | 66995320 | missense variant | T/C;G | snv | 6.0E-05 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 7 | 66995320 | missense variant | T/C;G | snv | 6.0E-05 |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 |
|
0.700 | 1.000 | 4 | 2003 | 2013 |