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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | MT | 9237 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.280 | 1 | 160127638 | frameshift variant | C/- | del |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.851 | 0.280 | 1 | 160135284 | frameshift variant | GT/- | delins |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.807 | 0.440 | 12 | 7202274 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 2 | 165354232 | missense variant | G/T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.040 | 12 | 13571859 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 8 | 91071136 | splice acceptor variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 8 | 91078597 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 14 | 80955802 | missense variant | G/C | snv | 4.0E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.280 | 1 | 236895470 | missense variant | C/T | snv | 6.4E-05 | 8.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 8 | 67434148 | stop gained | G/A | snv | 3.2E-05 | 2.2E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 2 | 156329859 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 10 | 1080454 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 11 | 118374964 | frameshift variant | CA/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 1 | 109628692 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 15 | 40987186 | missense variant | C/T | snv | 3.1E-04 | 8.4E-04 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.080 | 8 | 91078383 | stop gained | C/T | snv | 1.6E-04 | 1.0E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 5 | 141122905 | frameshift variant | A/-;AA | delins | 1.7E-04 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.080 | 4 | 106194717 | splice donor variant | C/A;T | snv | 4.3E-06; 8.7E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.280 | 19 | 41967744 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.320 | 12 | 6944122 | start lost | A/G | snv | 3.2E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.040 | 20 | 48953604 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.080 | 1 | 46510953 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 20 | 45304356 | missense variant | C/G | snv |
|
0.700 | 0 |