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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 8 | 43192413 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.360 | 17 | 42543840 | missense variant | A/G | snv | 5.4E-05 | 1.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 17 | 44212851 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 1 | 26773716 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.320 | 17 | 80214291 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.732 | 0.360 | 17 | 42543921 | stop gained | G/A;C;T | snv | 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.080 | 16 | 57654103 | frameshift variant | CAGGACC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | X | 48902391 | frameshift variant | AGAG/-;AG;AGAGAG | delins |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.480 | 22 | 23833670 | inframe deletion | AGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 2 | 165313738 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv |
|
0.040 | 1.000 | 4 | 2006 | 2018 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.040 | 1.000 | 4 | 2013 | 2019 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.040 | 1.000 | 4 | 2013 | 2019 | |||||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.040 | 1.000 | 4 | 2006 | 2014 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2002 | 2008 | |||||||
|
0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 |
|
0.020 | 1.000 | 2 | 2012 | 2013 | |||||||
|
0.851 | 0.080 | X | 24503479 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv |
|
0.020 | 1.000 | 2 | 2006 | 2012 | |||||||||
|
0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 |
|
0.020 | 1.000 | 2 | 2003 | 2005 | ||||||||
|
0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2010 | 2016 | |||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.240 | 12 | 109591301 | missense variant | C/G;T | snv | 1.4E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |