| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.440 | 13 | 32340212 | stop gained | G/T | snv | 8.0E-06 |
|
0.710 | 1.000 | 0 | 2013 | 2013 | ||||||||
|
0.752 | 0.440 | 13 | 32379913 | splice region variant | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.280 | 13 | 32338598 | stop gained | G/A;T | snv | 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.320 | 13 | 32370955 | splice acceptor variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.320 | 13 | 32319101 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.724 | 0.440 | 13 | 32340037 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.320 | 13 | 32363369 | missense variant | G/A;C | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.240 | 13 | 32380043 | missense variant | C/T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.320 | 13 | 32319109 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.280 | 13 | 32332877 | stop gained | A/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.440 | 13 | 32319154 | stop gained | G/C;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.320 | 13 | 32337464 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.280 | 13 | 32340146 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.320 | 13 | 32341011 | stop gained | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.400 | 13 | 32346841 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.480 | 13 | 32356472 | stop gained | C/A;T | snv | 8.0E-06; 3.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.320 | 13 | 32362596 | missense variant | A/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.320 | 13 | 32363190 | missense variant | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.320 | 13 | 32394726 | stop gained | C/A;G | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.320 | 13 | 32394814 | stop gained | C/T | snv | 1.2E-05 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.240 | 13 | 32336684 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 13 | 32340176 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 13 | 32340757 | frameshift variant | CTTAA/- | delins | 4.2E-06 | 1.4E-05 |
|
0.700 | 0 |