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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv |
|
0.810 | 1.000 | 52 | 1990 | 2017 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.833 | 42 | 2003 | 2018 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.833 | 42 | 2003 | 2018 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.833 | 42 | 2003 | 2018 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.833 | 42 | 2003 | 2018 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.923 | 39 | 2002 | 2019 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.923 | 39 | 2002 | 2019 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.909 | 33 | 2005 | 2019 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.909 | 33 | 2005 | 2019 | |||||||||
|
0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 30 | 1990 | 2017 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.966 | 29 | 2003 | 2018 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.966 | 29 | 2003 | 2018 | |||||||||
|
0.807 | 0.200 | 17 | 7675071 | missense variant | G/A;T | snv |
|
0.800 | 1.000 | 27 | 1990 | 2017 | |||||||||
|
0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv |
|
0.800 | 1.000 | 25 | 1990 | 2017 | |||||||||
|
0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv |
|
0.800 | 1.000 | 22 | 1994 | 2020 | |||||||||
|
0.851 | 0.200 | 17 | 7670700 | missense variant | G/A;C | snv |
|
0.810 | 1.000 | 22 | 1990 | 2014 | |||||||||
|
0.925 | 0.120 | 17 | 7670678 | missense variant | A/G | snv |
|
0.800 | 1.000 | 21 | 1990 | 2017 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.750 | 20 | 2006 | 2018 | |||||||||
|
0.732 | 0.440 | 17 | 7675190 | missense variant | C/A;T | snv |
|
0.800 | 1.000 | 20 | 1990 | 2014 | |||||||||
|
0.683 | 0.440 | 17 | 7674953 | missense variant | T/A;C;G | snv |
|
0.800 | 1.000 | 20 | 1990 | 2017 | |||||||||
|
0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv |
|
0.800 | 1.000 | 20 | 1990 | 2018 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.750 | 20 | 2006 | 2018 | |||||||||
|
0.925 | 0.120 | 17 | 7673745 | missense variant | T/A;C | snv |
|
0.710 | 1.000 | 19 | 1990 | 2017 | |||||||||
|
0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 19 | 1992 | 2016 | |||||||||
|
0.695 | 0.480 | 17 | 7675161 | missense variant | G/A;C;T | snv |
|
0.800 | 1.000 | 19 | 1990 | 2014 |