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 | 0.120 | 16 | 3793539 | stop gained | G/A | snv |
|
0.710 | 1.000 | 0 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 16 | 3778699 | splice donor variant | C/A;T | snv |
|
0.700 | 1.000 | 3 | 2006 | 2016 | |||||||||
|
0.925 | 0.120 | 16 | 3729405 | frameshift variant | CT/- | delins |
|
0.700 | 1.000 | 3 | 2005 | 2011 | |||||||||
|
0.925 | 0.120 | 16 | 3749626 | splice donor variant | C/G;T | snv |
|
0.700 | 1.000 | 3 | 2005 | 2008 | |||||||||
|
1.000 | 0.120 | 16 | 3729433 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.120 | 16 | 3851010 | splice acceptor variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 16 | 3792074 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3736812 | stop gained | A/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 16 | 3729344 | frameshift variant | GTGTGCTGGG/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3731350 | stop gained | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3736101 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 16 | 3736119 | frameshift variant | CA/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3738559 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3739627 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3745276 | splice donor variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3767910 | splice acceptor variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3782810 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3850587 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3850623 | frameshift variant | G/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3744899 | frameshift variant | G/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3778723 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3879832 | start lost | TGTGCTGTCATTCGCCGAGAAACCGGGCGAGCTGAGTTTGGCTCTTTTGGGGTTGGGCGGTCCGTCCAGCAAGTTCTCAGCCATTTTCACCTGCTCGCGAAAACAGCCCCGGGCACGGGCGGCCGGGCCGGCGAGGGCCCGGACGGGGGTCGGGGGCCCTGCCGGCTGCGAGGGAGAGGAGCGAGCGCGGGCCGCGAGCGGGCGGGCGGGCGCCGAGGGAGAGGGAGGGCGCAGGCCGGGTGGGGGAGGCGGCGGCCAAATCTCAGCCACAGCAACAGCGCCCCGCAGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 16 | 3749631 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 3744893 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.360 | 16 | 3738617 | missense variant | G/A;C | snv |
|
0.700 | 0 |