| 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 | 100647014 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 12 | 101753470 | frameshift variant | GA/- | delins | 5.1E-04 | 3.5E-04 |
|
0.700 | 1.000 | 3 | 2006 | 2014 | |||||||
|
1.000 | 3 | 101757754 | missense variant | A/G | snv |
|
0.700 | 0 | |||||||||||||
|
X | 10206437 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
X | 10206464 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
X | 10206756 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
X | 10208595 | splice region variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
X | 10213705 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | X | 10213734 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
X | 10213768 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
X | 10213979 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
X | 10220837 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
14 | 102348559 | stop lost | A/C | snv |
|
0.700 | 0 | ||||||||||||||
|
0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 14 | 105226674 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 14 | 105228832 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 14 | 105241282 | missense variant | G/A | snv | 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 14 | 105241292 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 14 | 105368112 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.851 | 0.160 | 10 | 1080454 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 1 | 109258951 | missense variant | C/G;T | snv | 7.3E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 6 | 110100644 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
6 | 110101594 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 110101628 | frameshift variant | G/CCTGGC | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 |