| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2011 | 2012 | |||||||
|
1.000 | 0.120 | 1 | 34785300 | stop gained | C/T | snv | 8.8E-05 | 3.5E-05 |
|
0.020 | 1.000 | 2 | 2005 | 2017 | |||||||
|
0.790 | 0.200 | 1 | 216247118 | missense variant | C/A | snv | 9.7E-04 | 1.3E-03 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 1 | 34784863 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.200 | 1 | 34785309 | missense variant | G/A | snv | 6.4E-04 | 1.8E-04 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 1 | 215728232 | stop gained | C/T | snv | 9.2E-05 | 1.2E-04 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 34784770 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 1 | 40820180 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 1 | 216325540 | missense variant | C/T | snv | 3.6E-05 | 3.5E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 1 | 216207280 | stop gained | G/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 1 | 215837990 | splice donor variant | C/G | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 1 | 6460077 | frameshift variant | C/- | del | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 1 | 145916914 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 1 | 145912346 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 1 | 149925922 | frameshift variant | GGG/-;GG;GGGG | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 2 | 178456149 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
2 | 178461239 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.160 | 2 | 169154475 | stop gained | T/A;C | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.280 | 2 | 169196995 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.120 | 2 | 26479356 | stop gained | G/A;T | snv | 3.6E-05; 2.4E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.320 | 2 | 171443559 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 |