| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | 17 | 7675052 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 22 | 28725242 | splice donor variant | C/A;T | snv | 4.0E-06; 1.3E-04 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.400 | X | 77520832 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 22 | 28734673 | missense variant | C/A | snv |
|
0.800 | 0 | ||||||||||||
|
0.763 | 0.280 | 22 | 28695219 | missense variant | G/A | snv | 4.9E-04 | 2.6E-04 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.200 | 13 | 48459708 | missense variant | C/T | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 22 | 28734468 | missense variant | G/A;C;T | snv | 9.1E-04; 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 22 | 28725270 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.667 | 0.480 | 17 | 7674241 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 |
|
0.700 | 0 | ||||||||||
|
0.716 | 0.360 | 17 | 7673821 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 22 | 28725241 | splice donor variant | A/C;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 13 | 48373493 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 22 | 28734506 | stop gained | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 22 | 28734401 | splice donor variant | A/G;T | snv | 4.0E-06; 6.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 22 | 28725278 | stop gained | G/A;C | snv | 2.4E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.040 | 17 | 7673790 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 17 | 7675130 | frameshift variant | -/CCATGGC | delins |
|
0.700 | 0 | ||||||||||||
|
0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 |
|
0.020 | < 0.001 | 2 | 2014 | 2016 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.160 | 21 | 45531871 | missense variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 6 | 33009477 | synonymous variant | C/A;T | snv | 4.3E-06 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 |