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 | 0.320 | 4 | 15580087 | frameshift variant | GT/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.320 | 4 | 15560607 | missense variant | A/T | snv | 2.4E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.320 | 4 | 15599632 | missense variant | T/G | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.827 | 0.360 | 4 | 15533284 | stop gained | C/T | snv | 1.8E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.320 | 4 | 15589654 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.320 | 4 | 15567482 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.320 | 4 | 15569346 | missense variant | T/C | snv | 9.8E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.320 | 4 | 15574297 | frameshift variant | -/GGTT | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.320 | 4 | 15579967 | splice acceptor variant | G/T | snv | 5.2E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.320 | 4 | 15563474 | missense variant | T/C | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.320 | 4 | 15601303 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.320 | 4 | 15601404 | frameshift variant | CTCT/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.320 | 4 | 15589591 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.320 | 4 | 15533228 | inframe deletion | AGA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.320 | 4 | 15557349 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.320 | 4 | 15597460 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.320 | 4 | 15570501 | splice region variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.320 | 4 | 15511290 | frameshift variant | -/TA | delins | 4.3E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.320 | 4 | 15599591 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.360 | 4 | 15563461 | frameshift variant | TA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 4 | 15502836 | missense variant | T/C;G | snv | 4.1E-06; 1.3E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.320 | 4 | 15540994 | missense variant | C/A;T | snv | 6.4E-06; 2.4E-03 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.360 | 4 | 15563485 | stop gained | C/A;G;T | snv | 2.0E-05; 2.0E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.360 | 4 | 15557361 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.320 | 4 | 15597432 | frameshift variant | GACA/- | delins | 0.700 | 0 |