Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.240 | 3 | 4815154 | missense variant | T/G | snv | 0.800 | 1.000 | 2 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.240 | 3 | 4814521 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 0 | |||||||
|
4 | 0.925 | 0.240 | 3 | 4627877 | splice region variant | CGTA/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.240 | 3 | 4680564 | frameshift variant | -/TATA | ins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.240 | 3 | 4815177 | inframe deletion | AAG/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.882 | 0.240 | 3 | 4645678 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.240 | 3 | 4815144 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 3 | 4662080 | splice acceptor variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 3 | 4706208 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 3 | 4670904 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 3 | 4782744 | splice region variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 3 | 4788144 | splice region variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 3 | 4779584 | missense variant | A/G | snv | 0.700 | 0 |