| 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 | 17 | 31235623 | stop gained | C/T | snv |
|
0.700 | 1.000 | 34 | 1967 | 2017 | |||||||||
|
1.000 | 17 | 31330303 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 34 | 1967 | 2017 | ||||||||||
|
1.000 | 17 | 31334860 | stop gained | T/A | snv |
|
0.700 | 1.000 | 34 | 1967 | 2017 | ||||||||||
|
1.000 | 17 | 31338798 | frameshift variant | -/TA | delins |
|
0.700 | 1.000 | 34 | 1967 | 2017 | ||||||||||
|
0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 |
|
0.700 | 1.000 | 12 | 1967 | 2017 | ||||||||
|
0.925 | 0.080 | 13 | 36335466 | frameshift variant | AT/- | del | 6.8E-05 | 9.8E-05 |
|
0.700 | 1.000 | 10 | 1967 | 2015 | |||||||
|
0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 20 | 1968 | 2016 | |||||||
|
0.851 | 0.200 | 12 | 112472981 | missense variant | G/A;T | snv | 3.2E-05 | 3.5E-05 |
|
0.700 | 1.000 | 20 | 1968 | 2016 | |||||||
|
0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv |
|
0.700 | 1.000 | 20 | 1968 | 2016 | |||||||||
|
0.851 | 0.160 | 12 | 112473031 | missense variant | A/G | snv | 7.0E-06 |
|
0.700 | 1.000 | 20 | 1968 | 2016 | ||||||||
|
0.752 | 0.320 | 12 | 112473040 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 20 | 1968 | 2016 | |||||||||
|
0.827 | 0.160 | 12 | 112489068 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 20 | 1968 | 2016 | |||||||
|
0.752 | 0.280 | 12 | 112489086 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 1.000 | 20 | 1968 | 2016 | ||||||||
|
0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv |
|
0.700 | 1.000 | 10 | 1968 | 2013 | |||||||||
|
0.790 | 0.360 | 7 | 140754187 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 8 | 1968 | 2013 | |||||||||
|
0.851 | 0.240 | 7 | 140777006 | missense variant | C/G | snv |
|
0.700 | 1.000 | 8 | 1968 | 2013 | |||||||||
|
0.807 | 0.280 | 7 | 140749365 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 8 | 1968 | 2013 | |||||||||
|
0.790 | 0.280 | 7 | 140801550 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 8 | 1968 | 2013 | |||||||||
|
0.882 | 0.200 | 7 | 140801503 | missense variant | G/T | snv |
|
0.700 | 1.000 | 8 | 1968 | 2013 | |||||||||
|
0.925 | 0.160 | 7 | 140778048 | missense variant | A/C | snv |
|
0.700 | 1.000 | 8 | 1968 | 2013 | |||||||||
|
0.925 | 0.160 | 7 | 140777032 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 8 | 1968 | 2013 | |||||||||
|
1.000 | X | 47181541 | frameshift variant | GT/- | delins |
|
0.700 | 1.000 | 6 | 1970 | 2017 | ||||||||||
|
1.000 | 12 | 115966138 | stop gained | G/A | snv |
|
0.700 | 1.000 | 16 | 1971 | 2018 | ||||||||||
|
1.000 | 12 | 115966189 | missense variant | G/T | snv |
|
0.700 | 1.000 | 16 | 1971 | 2018 | ||||||||||
|
1.000 | 12 | 115982526 | missense variant | A/T | snv |
|
0.700 | 1.000 | 16 | 1971 | 2018 |