| 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 | 0.080 | 3 | 129528999 | missense variant | G/A;C | snv |
|
0.710 | 1.000 | 0 | 2011 | 2011 | |||||||||
|
0.882 | 0.080 | 3 | 129532636 | missense variant | C/T | snv |
|
0.710 | 1.000 | 0 | 1997 | 1997 | |||||||||
|
0.882 | 0.080 | 3 | 129528777 | missense variant | A/G | snv |
|
0.710 | 1.000 | 0 | 1998 | 1998 | |||||||||
|
0.882 | 0.160 | 8 | 43199504 | missense variant | G/A | snv | 4.1E-03 | 3.6E-03 |
|
0.710 | 1.000 | 0 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 3 | 129528786 | missense variant | G/A;C | snv | 8.0E-05; 8.0E-06 |
|
0.710 | 1.000 | 0 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 2 | 29073706 | stop gained | G/A;C;T | snv | 8.0E-06; 4.8E-05 |
|
0.710 | 1.000 | 0 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 6 | 63721226 | stop gained | G/T | snv | 3.2E-05 | 2.1E-05 |
|
0.710 | 1.000 | 0 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 6 | 63762520 | stop gained | A/T | snv | 1.3E-05 |
|
0.710 | 1.000 | 0 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 5 | 149884549 | stop gained | G/A | snv | 2.8E-05 | 7.0E-06 |
|
0.710 | 1.000 | 0 | 2018 | 2018 | |||||||
|
0.882 | 0.200 | 1 | 215671085 | missense variant | T/C;G | snv |
|
0.710 | 1.000 | 0 | 2007 | 2007 | |||||||||
|
0.882 | 0.200 | 1 | 216048648 | splice acceptor variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 3 | 129531025 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 7 | 128398560 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 6 | 63984462 | stop gained | G/A | snv | 2.5E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 94008300 | splice region variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 6 | 65405253 | missense variant | C/T | snv | 1.8E-03 | 3.7E-03 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 6 | 63726584 | frameshift variant | T/- | del | 1.3E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 215675463 | missense variant | T/C | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 1 | 216196630 | stop gained | C/A;G | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 61840222 | frameshift variant | T/- | del | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 7 | 23125163 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 11 | 17517465 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 1 | 150344216 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 16 | 56514487 | missense variant | T/G | snv | 4.4E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 6 | 35503816 | missense variant | A/G | snv | 8.0E-06 |
|
0.700 | 0 |