| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 |
|
0.890 | 0.923 | 13 | 2005 | 2019 | ||||||||
|
0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 |
|
0.830 | 1.000 | 9 | 2007 | 2019 | ||||||||
|
0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins |
|
0.830 | 1.000 | 8 | 2007 | 2017 | |||||||||
|
0.925 | 0.120 | 16 | 50729868 | frameshift variant | C/-;CC | delins |
|
0.700 | 1.000 | 4 | 2007 | 2012 | |||||||||
|
0.925 | 0.040 | 16 | 50705671 | intron variant | C/G | snv | 0.20 |
|
0.810 | 1.000 | 3 | 2007 | 2017 | ||||||||
|
1.000 | 0.040 | 16 | 50722863 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 3 | 2007 | 2014 | |||||||||
|
1.000 | 0.040 | 16 | 50713793 | intron variant | C/T | snv | 0.20 |
|
0.710 | 1.000 | 2 | 2007 | 2014 | ||||||||
|
0.882 | 0.120 | 16 | 50710912 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
1.000 | 0.040 | 16 | 50711298 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.925 | 0.040 | 16 | 50716670 | frameshift variant | C/- | del |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.040 | 16 | 50707883 | missense variant | T/C | snv |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.040 | 16 | 50707551 | intron variant | A/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.160 | 16 | 50732216 | splice donor variant | A/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.160 | 16 | 50732975 | 3 prime UTR variant | G/A | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.120 | 16 | 50728860 | intron variant | T/C | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 16 | 50724938 | intron variant | G/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 16 | 50717264 | intron variant | T/G | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.240 | 16 | 50699557 | missense variant | G/C | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 16 | 50733736 | 3 prime UTR variant | A/G | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.080 | 16 | 50704069 | intron variant | A/G | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 16 | 50710953 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 16 | 50716902 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 16 | 50711559 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 16 | 50716931 | missense variant | A/G;T | snv | 1.3E-03; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 16 | 50722678 | missense variant | G/A;T | snv | 6.8E-05; 4.0E-06 |
|
0.700 | 0 |