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 | 87933223 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.240 | 10 | 87961039 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||
|
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 | 87961067 | stop gained | TGACAAAGCAAATA/CGCTT | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 10 | 87925562 | splice region variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 10 | 87952135 | missense variant | T/A | snv |
|
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 | ||||||||||||
|
0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 4 | 1997 | 2013 | ||||||||
|
0.790 | 0.160 | 10 | 87894049 | missense variant | T/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 | 87957858 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 10 | 87957984 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 7 | 1997 | 2015 | |||||||||
|
0.776 | 0.160 | 10 | 87952258 | stop gained | C/A;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 5 | 1975 | 2014 | ||||||||
|
0.790 | 0.160 | 10 | 87933154 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 5 | 2007 | 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 | 87952264 | splice region variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |