| 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 | 0.080 | 10 | 87933181 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
0.882 | 0.160 | 10 | 87965286 | splice acceptor variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.763 | 0.160 | 10 | 87965285 | splice acceptor variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
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 | 87931045 | splice acceptor variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.160 | 10 | 87952260 | splice donor variant | G/C | snv |
|
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 | 87931094 | splice region variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.160 | 10 | 87933252 | splice donor variant | G/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.160 | 10 | 87952263 | splice region variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.776 | 0.240 | 10 | 87925558 | splice region variant | AGTA/- | delins |
|
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 | |||||||||
|
0.790 | 0.160 | 10 | 87952116 | splice acceptor variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.160 | 10 | 87960892 | splice acceptor variant | A/G;T | snv | 5.1E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.160 | 10 | 87952261 | splice donor variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.776 | 0.160 | 10 | 87961119 | splice donor variant | G/A;C | 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 | |||||||||
|
0.776 | 0.200 | 10 | 87957852 | splice acceptor variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.752 | 0.240 | 10 | 87961039 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||
|
0.752 | 0.200 | 10 | 87933144 | stop gained | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 10 | 87864470 | start lost | A/G | snv |
|
0.700 | 1.000 | 3 | 2011 | 2014 | |||||||||
|
0.790 | 0.160 | 10 | 87952264 | splice region variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2008 | 2017 | ||||||||
|
1.000 | 0.080 | 10 | 87933082 | missense variant | T/C | snv |
|
0.700 | 1.000 | 5 | 2007 | 2017 | |||||||||
|
0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 5 | 2007 | 2017 |