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 | 0.240 | 11 | 78112692 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | 16 | 89281225 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.320 | 6 | 157201464 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2006 | 2006 | |||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 7 | 140753339 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.280 | 7 | 140753337 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.763 | 0.280 | 8 | 60850546 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.280 | 1 | 102915626 | splice region variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 1 | 102912180 | inframe deletion | CCTCACCAGATGGGCCAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | X | 41343249 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 21 | 37480785 | stop gained | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 11 | 86277110 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 7 | 74054770 | splice donor variant | G/A | snv | 6.0E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv |
|
0.700 | 0 |