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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.752 | 0.440 | 5 | 68296301 | missense variant | C/T | snv | 0.820 | 1.000 | 9 | 2013 | 2018 | |||||
|
1 | 1.000 | 0.160 | 5 | 68294575 | missense variant | G/A | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.160 | 5 | 68293835 | splice donor variant | G/A;C;T | snv | 0.700 | 1.000 | 4 | 2012 | 2016 | |||||
|
3 | 0.882 | 0.160 | 5 | 68295287 | frameshift variant | -/T | delins | 0.700 | 1.000 | 3 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.160 | 5 | 68294570 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.160 | 5 | 68293790 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 68296298 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 68296262 | frameshift variant | -/C | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 68296248 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 68296260 | frameshift variant | AA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 68296327 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 68293187 | missense variant | C/T | snv | 0.700 | 0 |