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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.060 | 0.667 | 6 | 2007 | 2016 | |||||||||
|
0.827 | 0.160 | 9 | 104094409 | 5 prime UTR variant | -/GC | ins | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.060 | 0.667 | 6 | 2007 | 2016 | |||||||||
|
0.925 | 0.080 | 17 | 13000197 | frameshift variant | T/- | del | 4.0E-06 |
|
0.020 | 0.500 | 2 | 2005 | 2008 | ||||||||
|
0.851 | 0.160 | 8 | 11853378 | frameshift variant | AG/- | del | 1.6E-04 | 1.5E-04 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.752 | 0.240 | 17 | 43094464 | frameshift variant | T/- | del |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.080 | 4 | 38774477 | frameshift variant | GCAGTTGGAT/- | del |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.030 | 1.000 | 3 | 2000 | 2006 | |||||||||
|
0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 21 | 31664502 | intron variant | AGA/- | delins | 0.13 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.708 | 0.240 | 5 | 83142293 | intron variant | GATGAGGAAACTAACTCTCAGTGGTGTTTA/- | delins | 0.48 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.667 | 0.520 | 3 | 46373453 | frameshift variant | GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- | delins | 7.3E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.776 | 0.240 | 17 | 34255979 | non coding transcript exon variant | AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC | delins | 0.33 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 6 | 160160511 | downstream gene variant | -/G | delins | 0.31 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.160 | 2 | 211380365 | 3 prime UTR variant | -/AAAATAGGATTG | delins |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 |
|
0.800 | 0.938 | 31 | 2012 | 2019 | |||||||
|
0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 |
|
0.100 | 0.690 | 29 | 1999 | 2015 | ||||||||
|
0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv |
|
0.800 | 0.914 | 28 | 2007 | 2019 | |||||||||
|
0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 |
|
0.800 | 1.000 | 26 | 2008 | 2020 | ||||||||
|
0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 |
|
0.100 | 0.708 | 24 | 2002 | 2019 | |||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.800 | 0.871 | 24 | 2007 | 2019 | ||||||||
|
0.716 | 0.320 | 2 | 31580756 | missense variant | C/T | snv | 1.8E-02 | 2.1E-02 |
|
0.100 | 0.556 | 18 | 1999 | 2017 |