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 | 11 | 533309 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.480 | 11 | 533466 | missense variant | G/A | snv |
|
0.800 | 1.000 | 3 | 2005 | 2014 | |||||||||
|
0.790 | 0.480 | 11 | 533466 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.480 | 11 | 533466 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.480 | 11 | 533466 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.480 | 11 | 533466 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.480 | 11 | 533466 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.480 | 11 | 533466 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.360 | 11 | 533467 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.360 | 11 | 533467 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.360 | 11 | 533467 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.360 | 11 | 533467 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.360 | 11 | 533467 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.360 | 11 | 533467 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.360 | 11 | 533467 | missense variant | C/G;T | snv |
|
0.800 | 1.000 | 0 | 2005 | 2010 | |||||||||
|
1.000 | 0.080 | 11 | 533553 | missense variant | T/C | snv |
|
0.810 | 1.000 | 4 | 2005 | 2018 | |||||||||
|
1.000 | 0.080 | 11 | 533848 | inframe insertion | -/GTCCCGCATGGCGCTGTACTC | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 11 | 533869 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.440 | 11 | 533873 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 1986 | 1991 | |||||||||
|
0.776 | 0.120 | 11 | 533873 | missense variant | CT/AC;TC | mnv |
|
0.710 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.724 | 0.440 | 11 | 533873 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.440 | 11 | 533873 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.440 | 11 | 533873 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.440 | 11 | 533873 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.440 | 11 | 533873 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |