| 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 | 2 | 110638153 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 1 | 45331514 | frameshift variant | -/CC | delins | 1.6E-04 | 2.7E-04 |
|
0.700 | 1.000 | 6 | 2004 | 2012 | |||||||
|
0.882 | 0.120 | 1 | 45331700 | frameshift variant | G/- | delins | 6.4E-05 | 4.2E-05 |
|
0.700 | 1.000 | 4 | 2006 | 2009 | |||||||
|
0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 9 | 95150014 | frameshift variant | G/-;GG | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 5 | 96794169 | intron variant | -/C | delins | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.776 | 0.080 | 13 | 33518027 | intron variant | -/TAA | delins | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 5 | 40281696 | intergenic variant | T/-;TT;TTT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.240 | 13 | 32339317 | frameshift variant | T/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.200 | 2 | 47463096 | stop gained | ATGA/-;ATGAATGA | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.200 | 5 | 112839515 | frameshift variant | AAAGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 17 | 65537563 | frameshift variant | -/CGCGGGAGGCAGC | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 17 | 65536467 | frameshift variant | C/-;CC | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 1 | 85270828 | frameshift variant | T/-;TT | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 19 | 48955714 | frameshift variant | GGGGGGG/-;GGGGGG;GGGGGGGG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 12392683 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 1 | 19978420 | frameshift variant | CA/- | delins | 6.0E-05 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 4 | 1801942 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 41224643 | inframe deletion | TCT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 3 | 37008858 | frameshift variant | AA/-;A;AAA | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | 13 | 32340817 | frameshift variant | TCTC/-;TC;TCTCTC | delins |
|
0.700 | 0 | ||||||||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.900 | 0.945 | 15 | 2007 | 2019 | ||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.800 | 1.000 | 14 | 2002 | 2015 | ||||||||
|
0.807 | 0.480 | 2 | 47800616 | missense variant | T/C;G | snv | 5.1E-03 |
|
0.710 | 1.000 | 12 | 1999 | 2012 |