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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.160 | 10 | 87864506 | frameshift variant | AA/-;AAA | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 10 | 87894049 | missense variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.200 | 10 | 87925511 | splice acceptor variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.160 | 10 | 87925512 | splice acceptor variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.160 | 10 | 87925550 | missense variant | T/A;C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 10 | 87925557 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.240 | 10 | 87925558 | splice region variant | AGTA/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.160 | 10 | 87925562 | splice region variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.160 | 10 | 87931042 | splice acceptor variant | AGTT/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.160 | 10 | 87931045 | splice acceptor variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.742 | 0.280 | 10 | 87931090 | splice donor variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.742 | 0.360 | 10 | 87931091 | splice donor variant | T/A;C | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 10 | 87931094 | splice region variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.160 | 10 | 87933057 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 10 | 87933061 | frameshift variant | -/AAACC | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 10 | 87933106 | frameshift variant | ACAAT/- | del |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.240 | 10 | 87933127 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 10 | 87933129 | missense variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 4 | 1997 | 2013 | ||||||||
|
0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 10 | 87933154 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.360 | 10 | 87933163 | missense variant | T/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 10 | 87933223 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 10 | 87933252 | splice donor variant | G/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 |