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 | 0.160 | 3 | 10142104 | missense variant | C/G;T | snv |
|
0.810 | 1.000 | 26 | 1994 | 2017 | |||||||||
|
0.776 | 0.320 | 3 | 10142139 | missense variant | T/C | snv | 1.3E-05 |
|
0.810 | 1.000 | 25 | 1994 | 2017 | ||||||||
|
0.925 | 0.160 | 3 | 10142109 | missense variant | T/A;C | snv |
|
0.800 | 1.000 | 22 | 1993 | 2017 | |||||||||
|
0.827 | 0.280 | 3 | 10149822 | missense variant | C/G;T | snv | 8.0E-06 |
|
0.800 | 1.000 | 21 | 1994 | 2017 | ||||||||
|
1.000 | 0.120 | 3 | 10142103 | missense variant | C/G;T | snv |
|
0.800 | 1.000 | 19 | 1993 | 2017 | |||||||||
|
0.882 | 0.280 | 3 | 10149804 | stop gained | C/G;T | snv |
|
0.800 | 1.000 | 18 | 1994 | 2014 | |||||||||
|
0.827 | 0.280 | 3 | 10149823 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.810 | 1.000 | 18 | 1994 | 2017 | ||||||||
|
0.925 | 0.160 | 3 | 10142178 | missense variant | A/G;T | snv |
|
0.700 | 1.000 | 17 | 1994 | 2017 | |||||||||
|
0.882 | 0.160 | 3 | 10146603 | stop gained | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 15 | 1998 | 2014 | ||||||||
|
0.925 | 0.160 | 3 | 10146608 | frameshift variant | GC/- | del |
|
0.700 | 1.000 | 15 | 1994 | 2014 | |||||||||
|
0.882 | 0.200 | 3 | 10149790 | missense variant | A/G | snv |
|
0.800 | 1.000 | 14 | 1993 | 2017 | |||||||||
|
0.925 | 0.160 | 3 | 10142080 | missense variant | A/C;G;T | snv |
|
0.810 | 1.000 | 14 | 1996 | 2017 | |||||||||
|
0.925 | 0.160 | 3 | 10146535 | missense variant | A/G | snv |
|
0.800 | 1.000 | 14 | 1994 | 2017 | |||||||||
|
0.776 | 0.320 | 3 | 10149885 | missense variant | C/G | snv | 2.0E-05 | 4.2E-05 |
|
0.810 | 1.000 | 13 | 1994 | 2013 | |||||||
|
0.882 | 0.200 | 3 | 10149808 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 12 | 1993 | 2017 | ||||||||
|
1.000 | 0.120 | 3 | 10142179 | missense variant | G/A;T | snv |
|
0.800 | 1.000 | 12 | 1993 | 2017 | |||||||||
|
0.925 | 0.160 | 3 | 10146625 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 12 | 1999 | 2018 | |||||||||
|
0.882 | 0.200 | 3 | 10149814 | missense variant | A/G | snv |
|
0.800 | 1.000 | 11 | 1993 | 2017 | |||||||||
|
0.776 | 0.280 | 3 | 10149921 | missense variant | C/T | snv | 2.1E-04 | 1.0E-04 |
|
0.820 | 1.000 | 11 | 1993 | 2017 | |||||||
|
0.925 | 0.160 | 3 | 10142092 | missense variant | G/C;T | snv |
|
0.800 | 1.000 | 11 | 2000 | 2017 | |||||||||
|
0.776 | 0.320 | 3 | 10142181 | missense variant | T/A;C | snv |
|
0.810 | 1.000 | 10 | 1993 | 2017 | |||||||||
|
0.925 | 0.160 | 3 | 10146638 | splice donor variant | T/C;G | snv |
|
0.700 | 1.000 | 10 | 1996 | 2014 | |||||||||
|
0.925 | 0.160 | 3 | 10146580 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.800 | 1.000 | 10 | 1994 | 2017 | ||||||||
|
0.925 | 0.160 | 3 | 10142111 | missense variant | G/C;T | snv |
|
0.700 | 1.000 | 10 | 1995 | 2016 | |||||||||
|
1.000 | 0.120 | 3 | 10142125 | missense variant | G/A;T | snv |
|
0.800 | 1.000 | 9 | 1993 | 2017 |