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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 2 | 58606358 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.120 | 2 | 58728818 | intron variant | A/G | snv | 0.47 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
2 | 58708147 | intron variant | T/G | snv | 0.56 |
|
0.700 | 1.000 | 4 | 2017 | 2019 | ||||||||||
|
2 | 58770577 | intron variant | T/C | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
2 | 58770577 | intron variant | T/C | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
2 | 58461772 | splice region variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
2 | 58565242 | intron variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||||
|
2 | 58565242 | intron variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
0.925 | 0.040 | 2 | 58913731 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.040 | 2 | 58913731 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
2 | 58564285 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
2 | 58757735 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 58622593 | intron variant | C/G;T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 58756974 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 58630284 | intron variant | G/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.080 | 2 | 58694642 | intron variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
2 | 58738076 | intron variant | T/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 58442749 | intron variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 58749728 | intron variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 58912372 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 58655630 | intron variant | A/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 58723228 | intron variant | G/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 58706456 | intron variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 58665930 | intron variant | G/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 58461772 | splice region variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |