| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 127669950 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 27 | 1998 | 2016 | |||||||||||
|
2 | 166228902 | stop gained | C/T | snv |
|
0.700 | 1.000 | 21 | 1995 | 2016 | |||||||||||
|
12 | 76346181 | missense variant | C/A;G | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 17 | 1999 | 2013 | |||||||||
|
1 | 215845823 | coding sequence variant | C/- | delins |
|
0.700 | 1.000 | 15 | 2000 | 2015 | |||||||||||
|
11 | 77156991 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 1.000 | 13 | 1995 | 2011 | |||||||||
|
16 | 89934974 | missense variant | G/C | snv |
|
0.700 | 1.000 | 10 | 2010 | 2016 | |||||||||||
|
11 | 47336012 | splice acceptor variant | C/G | snv |
|
0.700 | 1.000 | 7 | 1995 | 2013 | |||||||||||
|
11 | 27658063 | stop gained | C/A | snv |
|
0.700 | 1.000 | 6 | 2001 | 2018 | |||||||||||
|
5 | 13792128 | stop gained | G/A | snv | 3.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 6 | 2002 | 2013 | |||||||||
|
20 | 10412669 | frameshift variant | -/T | delins |
|
0.700 | 1.000 | 5 | 1999 | 2016 | |||||||||||
|
4 | 41745807 | stop lost | T/C | snv |
|
0.700 | 1.000 | 4 | 2003 | 2017 | |||||||||||
|
1 | 153812108 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 4 | 2012 | 2016 | |||||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv |
|
0.700 | 1.000 | 12 | 1997 | 2015 | |||||||||
|
0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 14 | 2001 | 2015 | |||||||||
|
0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 |
|
0.700 | 1.000 | 15 | 2000 | 2015 | |||||||
|
0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 14 | 2006 | 2018 | |||||||||
|
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 | ||||||||
|
0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 |
|
0.700 | 1.000 | 4 | 2010 | 2017 | |||||||
|
0.752 | 0.280 | 12 | 76347713 | frameshift variant | -/A | delins | 6.0E-04 |
|
0.700 | 1.000 | 17 | 1999 | 2013 | ||||||||
|
0.763 | 0.040 | 5 | 161873196 | missense variant | G/A | snv |
|
0.700 | 1.000 | 11 | 1997 | 2016 | |||||||||
|
0.790 | 0.160 | 10 | 87933223 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 14 | 2001 | 2015 | |||||||||
|
0.790 | 0.360 | 3 | 179221146 | missense variant | G/A | snv |
|
0.700 | 1.000 | 14 | 2006 | 2018 |