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 | 0.160 | 5 | 60904794 | missense variant | G/A | snv | 8.0E-06 | 7.1E-06 |
|
0.800 | 1.000 | 0 | 2004 | 2010 | |||||||
|
1.000 | 5 | 60887479 | missense variant | C/A | snv |
|
0.800 | 1.000 | 0 | 2009 | 2009 | ||||||||||
|
1.000 | 0.160 | 5 | 60944972 | stop gained | C/A | snv | 7.6E-05 | 4.9E-05 |
|
0.710 | 1.000 | 1 | 2004 | 2010 | |||||||
|
1.000 | 0.160 | 5 | 60899728 | splice acceptor variant | C/A;T | snv | 4.0E-06; 1.2E-05 |
|
0.700 | 1.000 | 2 | 2006 | 2016 | ||||||||
|
1.000 | 0.160 | 5 | 60918264 | splice donor variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2006 | 2015 | ||||||||
|
1.000 | 0.160 | 5 | 60918367 | frameshift variant | TCT/CA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.160 | 5 | 60918350 | frameshift variant | CA/- | delins |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.160 | 5 | 60918364 | stop gained | G/C | snv | 1.6E-05 | 3.5E-05 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.160 | 5 | 60902458 | frameshift variant | -/A | delins | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.160 | 5 | 60902509 | splice acceptor variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 5 | 60945264 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.160 | 5 | 60918266 | frameshift variant | ATGTA/- | delins | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 |