| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 17 | 43091614 | frameshift variant | AA/- | del |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 13 | 32362574 | stop gained | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 13 | 32333284 | frameshift variant | A/-;AA | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 13 | 32340837 | frameshift variant | ACAA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 13 | 32332429 | frameshift variant | A/-;AA | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 22 | 28710005 | splice donor variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.900 | 0.895 | 2 | 2003 | 2017 | ||||||||
|
0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 |
|
0.710 | 1.000 | 0 | 2003 | 2003 | ||||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.770 | 1.000 | 0 | 2005 | 2019 | ||||||||
|
0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 |
|
0.900 | 0.953 | 11 | 2007 | 2019 | ||||||||
|
0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 |
|
0.800 | 1.000 | 6 | 2007 | 2016 | ||||||||
|
0.732 | 0.360 | 5 | 56736057 | regulatory region variant | C/A | snv | 0.69 |
|
0.800 | 0.958 | 5 | 2007 | 2017 | ||||||||
|
0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 4 | 2007 | 2018 | |||||||||
|
0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 |
|
0.800 | 0.864 | 4 | 2007 | 2017 | ||||||||
|
0.790 | 0.280 | 11 | 1887776 | intron variant | T/C | snv | 0.26 |
|
0.800 | 0.938 | 4 | 2007 | 2017 | ||||||||
|
0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 |
|
0.800 | 0.972 | 2 | 2007 | 2019 | ||||||||
|
0.882 | 0.160 | 12 | 73596057 | intergenic variant | C/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.160 | 18 | 55997051 | non coding transcript exon variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.807 | 0.240 | 17 | 50196930 | intron variant | T/A;G | snv |
|
0.710 | 0.500 | 1 | 2007 | 2011 | |||||||||
|
0.882 | 0.160 | 5 | 164462274 | intron variant | G/T | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.763 | 0.120 | 5 | 44706396 | intergenic variant | A/G | snv | 0.25 |
|
0.800 | 1.000 | 3 | 2008 | 2017 | ||||||||
|
0.851 | 0.120 | 7 | 92001306 | missense variant | G/T | snv | 0.38 | 0.42 |
|
0.720 | 1.000 | 2 | 2008 | 2017 | |||||||
|
0.882 | 0.160 | 6 | 127279485 | intron variant | G/A | snv | 0.73 |
|
0.740 | 0.800 | 1 | 2008 | 2012 | ||||||||
|
0.827 | 0.080 | 5 | 44662413 | upstream gene variant | C/T | snv | 0.49 |
|
0.790 | 1.000 | 1 | 2008 | 2018 | ||||||||
|
0.689 | 0.360 | 11 | 69227030 | intergenic variant | T/G | snv | 0.58 |
|
0.710 | 1.000 | 1 | 2008 | 2016 |