| 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 | 0.080 | 7 | 55181320 | protein altering variant | -/ACC | delins |
|
0.700 | 1.000 | 3 | 2005 | 2011 | |||||||||
|
0.925 | 0.080 | 17 | 39724728 | inframe insertion | -/ATACGTGATGGC | delins |
|
0.700 | 0 | ||||||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.070 | 1.000 | 7 | 2006 | 2018 | |||||||||
|
1.000 | 0.080 | 7 | 55181325 | inframe insertion | -/CACGTG | delins |
|
0.700 | 1.000 | 2 | 2005 | 2006 | |||||||||
|
1.000 | 0.080 | 7 | 55181323 | protein altering variant | -/CCCACG | delins |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
1.000 | 0.080 | 17 | 39724733 | inframe insertion | -/CTCCGTGATGGC | delins |
|
0.700 | 1.000 | 2 | 2004 | 2012 | |||||||||
|
1.000 | 0.080 | 7 | 55181324 | protein altering variant | -/GCCACG | delins |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
1.000 | 0.080 | 17 | 39724749 | inframe insertion | -/GGCTCCCCA | delins |
|
0.700 | 1.000 | 3 | 2004 | 2012 | |||||||||
|
1.000 | 0.080 | 17 | 39724748 | inframe insertion | -/GGGCTCCCC | delins |
|
0.700 | 1.000 | 5 | 2005 | 2012 | |||||||||
|
1.000 | 0.080 | 7 | 55181319 | inframe insertion | -/GGGTTG | ins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 6 | 117463495 | intron variant | -/GT | delins | 0.54 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 17 | 39724731 | inframe insertion | -/TACGTGATGGCT | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
0.882 | 0.080 | 7 | 140753338 | inframe insertion | -/TAG | delins | 4.0E-06 |
|
0.700 | 1.000 | 6 | 2009 | 2012 | ||||||||
|
1.000 | 0.080 | 7 | 55181287 | coding sequence variant | -/TCCAGGAAGCCT | delins |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 17 | 39724733 | inframe insertion | -/TCCGTGATGGCT | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 17 | 39724744 | protein altering variant | -/TCT;TGT;TTT | ins |
|
0.700 | 1.000 | 2 | 2005 | 2006 | |||||||||
|
0.925 | 0.160 | 2 | 54972426 | 3 prime UTR variant | -/TTA | ins | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.200 | 3 | 33798239 | intron variant | -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 17 | 39724738 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 4 | 40337027 | intron variant | A/-;AA;AAA | delins | 1.2E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 3 | 189625454 | intergenic variant | A/-;AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 |
|
0.050 | 0.800 | 5 | 2010 | 2019 | |||||||
|
0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv |
|
0.720 | 1.000 | 4 | 1995 | 2016 | |||||||||
|
1.000 | 0.080 | 6 | 33172302 | missense variant | A/C | snv |
|
0.030 | 1.000 | 3 | 2011 | 2018 |