| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 17 | 39665762 | stop gained | C/T | snv | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
2 | 178559769 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.925 | 0.040 | 6 | 118558946 | missense variant | C/T | snv |
|
0.710 | 1.000 | 9 | 2003 | 2018 | |||||||||
|
0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 |
|
0.710 | 1.000 | 0 | 2003 | 2003 | ||||||||
|
1.000 | 19 | 45385569 | stop gained | G/C | snv |
|
0.700 | 0 | |||||||||||||
|
1 | 156137653 | splice acceptor variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2008 | 2016 | |||||||||||
|
0.925 | 0.160 | 2 | 178528273 | splice donor variant | C/G;T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
2 | 178538945 | splice donor variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||||
|
0.827 | 0.240 | 13 | 23805994 | stop gained | C/A;T | snv | 4.0E-06; 1.3E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.160 | 6 | 7579989 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 14 | 23427879 | missense variant | A/G | snv |
|
0.700 | 1.000 | 6 | 1989 | 2013 | |||||||||
|
0.925 | 0.160 | 14 | 23417173 | missense variant | C/A;G;T | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 1 | 77942756 | missense variant | A/G | snv | 7.2E-05 | 1.0E-04 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.040 | 14 | 104741231 | missense variant | G/A | snv | 3.4E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 2 | 178630250 | stop gained | G/A | snv | 8.1E-06 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | |||||||
|
2 | 178740175 | frameshift variant | G/- | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.080 | 12 | 110913097 | missense variant | T/G | snv | 2.0E-04 | 2.9E-04 |
|
0.700 | 0 | ||||||||||
|
6 | 7579697 | stop gained | C/A;T | snv | 1.4E-04 |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.160 | 2 | 219423817 | stop gained | C/T | snv | 1.2E-05 |
|
0.700 | 1.000 | 9 | 2000 | 2013 | ||||||||
|
0.925 | 0.040 | 1 | 156136080 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
2 | 178528524 | splice donor variant | ACTGGCAGGTTGTTTTTAAACCATTCGATT/- | delins |
|
0.700 | 0 | ||||||||||||||
|
2 | 178564611 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.040 | 2 | 178570586 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
2 | 178570689 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||||
|
2 | 178572745 | frameshift variant | C/- | delins |
|
0.700 | 0 |