| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
X | 107645286 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||||
|
X | 107645287 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||||
|
0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 |
|
0.700 | 0 | ||||||||||
|
0.695 | 0.440 | 13 | 20189313 | missense variant | A/G | snv | 6.4E-04 | 6.4E-04 |
|
0.700 | 0 | ||||||||||
|
0.708 | 0.320 | X | 53647390 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 |
|
0.700 | 0 | |||||||||||
|
0.732 | 0.280 | 13 | 20189547 | frameshift variant | C/-;CC | delins | 6.4E-03 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.280 | 13 | 20189548 | missense variant | C/A;G | snv | 5.1E-04 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.280 | 12 | 112473023 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 12 | 112489086 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.280 | 13 | 20189031 | missense variant | C/G;T | snv | 6.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.280 | 13 | 20189166 | missense variant | C/T | snv | 2.9E-04 | 4.6E-04 |
|
0.700 | 0 | ||||||||||
|
0.763 | 0.280 | 13 | 20192782 | splice donor variant | C/T | snv | 2.3E-04 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.280 | 13 | 20189155 | missense variant | G/A | snv | 1.2E-04 | 2.0E-04 |
|
0.700 | 0 | ||||||||||
|
0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.280 | 13 | 20189443 | stop gained | C/A;T | snv | 1.3E-04; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.280 | 13 | 20189415 | frameshift variant | A/- | del | 8.9E-04 | 5.8E-04 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.160 | 12 | 112489105 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.200 | X | 53403635 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 12 | 112450359 | missense variant | G/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.480 | 14 | 58498824 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 3 | 69956460 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 13 | 20189386 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 |