| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 75841535 | intron variant | A/-;AA | delins | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 109524990 | intron variant | G/C | snv | 0.57 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
12 | 109527707 | intron variant | C/G | snv | 0.57 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
12 | 109512339 | intron variant | A/G | snv | 0.57 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
22 | 21577779 | intron variant | C/T | snv | 0.31 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | ||||||||||
|
22 | 21622758 | 3 prime UTR variant | C/G;T | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
22 | 21574627 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.925 | 0.120 | 22 | 21619030 | intron variant | C/A;T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.160 | 22 | 21576488 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 22 | 21609497 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 22 | 21622645 | 3 prime UTR variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
11 | 122664700 | intron variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 122659883 | intron variant | C/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 122655893 | 5 prime UTR variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
15 | 43382233 | intron variant | TAAAAGAAAAA/-;TAAAAGAAAAATAAAAGAAAAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
9 | 15305380 | intron variant | G/C | snv | 0.72 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
9 | 15294598 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2018 | |||||||||||
|
9 | 15296036 | intron variant | C/A | snv | 0.89 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||||
|
9 | 15304784 | intron variant | C/A | snv | 0.88 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
9 | 15303585 | intron variant | G/A | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 9 | 15289580 | intron variant | C/T | snv | 0.87 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
9 | 15293118 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
9 | 15298668 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
15 | 42807352 | intron variant | C/T | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 11304030 | intron variant | C/T | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |