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 | 13 | 32363410 | frameshift variant | -/AG | ins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 10 | 87961033 | stop gained | -/ATATCTAG | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.833 | 42 | 2003 | 2018 | |||||||||
|
0.882 | 0.080 | 13 | 32319111 | frameshift variant | -/C | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.160 | 5 | 113071088 | splice donor variant | -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT | delins |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 20 | 50578329 | intron variant | -/T;TC | ins | 0.62 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.280 | 5 | 80654344 | intron variant | -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT | ins | 0.51 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.160 | 15 | 74722772 | frameshift variant | -/TCTCGGT | ins | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
0.882 | 0.080 | 2 | 214767532 | frameshift variant | -/TG | delins |
|
0.020 | 1.000 | 2 | 2003 | 2006 | |||||||||
|
0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.200 | 3 | 33798239 | intron variant | -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA | delins |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 1 | 204196482 | 5 prime UTR variant | A/- | delins | 0.44 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 17 | 43093956 | frameshift variant | A/-;AA | delins |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 |
|
0.100 | 0.923 | 13 | 2000 | 2017 | |||||||
|
0.716 | 0.360 | 15 | 51210647 | 3 prime UTR variant | A/C | snv | 0.67 | 0.70 |
|
0.090 | 1.000 | 9 | 2008 | 2015 | |||||||
|
0.925 | 0.080 | 6 | 151618215 | 3 prime UTR variant | A/C | snv | 6.9E-02 |
|
0.730 | 1.000 | 3 | 2011 | 2016 | ||||||||
|
0.851 | 0.080 | 5 | 45285616 | intron variant | A/C | snv | 0.34 |
|
0.030 | 1.000 | 3 | 2012 | 2016 | ||||||||
|
0.790 | 0.160 | 2 | 38075270 | missense variant | A/C | snv | 4.3E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.925 | 0.080 | 15 | 60772552 | intron variant | A/C | snv | 0.80 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.925 | 0.080 | 22 | 40382227 | intron variant | A/C | snv | 0.12 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 |
|
0.020 | 0.500 | 2 | 2012 | 2016 | ||||||||
|
0.925 | 0.080 | 5 | 111065770 | upstream gene variant | A/C | snv | 5.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 19 | 10491504 | intron variant | A/C | snv | 0.92 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |