| 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 | 0.320 | 8 | 99835295 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 12 | 1998 | 2015 | |||||||||
|
1.000 | 8 | 99641974 | frameshift variant | -/GTCC | delins |
|
0.700 | 1.000 | 12 | 1998 | 2015 | ||||||||||
|
8 | 95045546 | frameshift variant | A/-;AA | delins | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2008 | 2016 | ||||||||||
|
0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 |
|
0.700 | 1.000 | 6 | 1983 | 2015 | ||||||||
|
0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 |
|
0.700 | 1.000 | 10 | 1999 | 2016 | ||||||||
|
0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 |
|
0.700 | 1.000 | 13 | 2012 | 2017 | |||||||
|
0.827 | 0.120 | 16 | 89546657 | coding sequence variant | GGCGGGAGA/- | delins | 2.6E-04 | 4.2E-04 |
|
0.700 | 1.000 | 13 | 2012 | 2017 | |||||||
|
16 | 89513008 | stop gained | C/A;G;T | snv | 4.0E-06; 5.7E-05; 4.9E-05 |
|
0.700 | 1.000 | 13 | 2012 | 2017 | ||||||||||
|
1.000 | 5 | 88804743 | missense variant | A/G;T | snv |
|
0.700 | 1.000 | 10 | 2007 | 2016 | ||||||||||
|
5 | 88804732 | stop gained | CA/- | delins |
|
0.700 | 1.000 | 10 | 2007 | 2016 | |||||||||||
|
1.000 | 0.080 | 16 | 8847794 | missense variant | C/G;T | snv | 1.3E-04; 4.4E-05 |
|
0.700 | 1.000 | 12 | 1997 | 2017 | ||||||||
|
0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 |
|
0.700 | 1.000 | 12 | 1997 | 2017 | |||||||
|
16 | 8797935 | missense variant | C/G | snv | 1.7E-05 | 1.4E-05 |
|
0.700 | 1.000 | 12 | 1997 | 2017 | |||||||||
|
1.000 | 10 | 87894025 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 14 | 2001 | 2015 | ||||||||||
|
11 | 86306378 | missense variant | A/G | snv | 8.0E-06 |
|
0.700 | 1.000 | 3 | 2015 | 2017 | ||||||||||
|
1.000 | 0.080 | 16 | 81356957 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 4 | 1990 | 2009 | |||||||
|
16 | 81354554 | stop gained | C/G | snv |
|
0.700 | 1.000 | 4 | 1990 | 2009 | |||||||||||
|
0.882 | 0.120 | 17 | 80213815 | missense variant | C/A;T | snv | 4.4E-06; 3.3E-04 |
|
0.700 | 1.000 | 8 | 2003 | 2018 | ||||||||
|
0.925 | 0.120 | 17 | 80210622 | missense variant | C/T | snv | 6.8E-05 | 2.8E-05 |
|
0.700 | 1.000 | 8 | 2003 | 2018 | |||||||
|
0.925 | 12 | 79448968 | missense variant | C/G;T | snv | 1.3E-04 | 6.2E-04 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.320 | 12 | 79448958 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 12 | 79448953 | missense variant | C/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 12 | 79353602 | missense variant | A/G | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 12 | 79353599 | missense variant | T/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | X | 77593803 | stop gained | C/T | snv |
|
0.700 | 1.000 | 21 | 1992 | 2017 |