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 | X | 32454685 | stop gained | G/A | snv |
|
0.700 | 1.000 | 7 | 2008 | 2018 | |||||||||
|
1.000 | 0.120 | X | 31323639 | stop gained | C/T | snv |
|
0.700 | 1.000 | 5 | 1999 | 2017 | |||||||||
|
1.000 | 0.120 | X | 31679588 | splice acceptor variant | T/C | snv |
|
0.700 | 1.000 | 5 | 2006 | 2015 | |||||||||
|
0.882 | 0.160 | X | 32573529 | splice donor variant | C/T | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 1.000 | 5 | 2007 | 2016 | |||||||
|
1.000 | 0.120 | X | 31180482 | splice acceptor variant | C/T | snv |
|
0.700 | 1.000 | 4 | 2006 | 2017 | |||||||||
|
1.000 | 0.120 | X | 31147289 | stop gained | G/A;T | snv | 5.5E-06 |
|
0.700 | 1.000 | 3 | 1998 | 2011 | ||||||||
|
1.000 | 0.120 | X | 32565701 | splice donor variant | C/A | snv |
|
0.700 | 1.000 | 3 | 2006 | 2014 | |||||||||
|
1.000 | 0.120 | X | 32644171 | stop gained | C/T | snv |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||||
|
1.000 | 0.120 | X | 32472310 | splice acceptor variant | C/- | del |
|
0.700 | 1.000 | 3 | 2006 | 2017 | |||||||||
|
0.882 | 0.160 | X | 33211304 | stop gained | C/T | snv |
|
0.700 | 1.000 | 3 | 2009 | 2017 | |||||||||
|
1.000 | 0.120 | X | 31180423 | stop gained | G/A | snv |
|
0.700 | 1.000 | 3 | 2000 | 2013 | |||||||||
|
0.925 | 0.160 | X | 31875300 | frameshift variant | T/-;TT | delins |
|
0.700 | 1.000 | 3 | 1990 | 2016 | |||||||||
|
1.000 | 0.120 | X | 32650983 | intron variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2004 | 2010 | |||||||||
|
0.882 | 0.160 | X | 32645020 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2009 | 2017 | |||||||||
|
1.000 | 0.120 | X | 32484946 | stop gained | G/A;T | snv | 2.2E-05 |
|
0.700 | 1.000 | 2 | 1997 | 2010 | ||||||||
|
1.000 | 0.120 | X | 31177964 | splice acceptor variant | ACGGGACTGCAAAACAAAAAATGAGGTGGTGAAGGAGACACACGCAAACTCAGCCGCAAAAAAATTTACTGAAAGGTCAAAATAAATAAAATCCAGCCAATTAAGTATGAACCATGGAAAGCAATAGCCAAACCAAGGTGTAAAGTGAATTAAAAGAAAAACACACAGTTGTGTGACTGCCA/- | delins |
|
0.700 | 1.000 | 2 | 2006 | 2014 | |||||||||
|
1.000 | 0.120 | X | 32362847 | stop gained | G/A | snv |
|
0.700 | 1.000 | 2 | 2005 | 2006 | |||||||||
|
1.000 | 0.120 | X | 32485084 | frameshift variant | G/- | del |
|
0.700 | 1.000 | 2 | 2007 | 2011 | |||||||||
|
1.000 | 0.120 | X | 32644202 | stop gained | G/A;C | snv | 5.5E-06 |
|
0.700 | 1.000 | 2 | 2006 | 2008 | ||||||||
|
0.925 | 0.160 | X | 33211281 | splice donor variant | C/A;G | snv |
|
0.700 | 1.000 | 2 | 2006 | 2014 | |||||||||
|
1.000 | 0.120 | X | 32411754 | stop gained | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.120 | 7 | 45127042 | regulatory region variant | T/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 10 | 127409786 | intron variant | G/A | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 6 | 67669441 | intergenic variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 8 | 130909710 | splice region variant | A/G | snv | 0.64 | 0.58 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |