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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 14 | 23429278 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 53 | 1961 | 2017 | |||||||||
|
0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 |
|
0.710 | 1.000 | 48 | 1993 | 2016 | ||||||||
|
0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 |
|
0.800 | 1.000 | 47 | 1982 | 2019 | ||||||||
|
0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv |
|
0.700 | 1.000 | 46 | 1988 | 2017 | |||||||||
|
0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv |
|
0.700 | 1.000 | 46 | 1988 | 2017 | |||||||||
|
19 | 13286952 | frameshift variant | -/A | delins | 4.2E-06 |
|
0.700 | 1.000 | 46 | 1988 | 2017 | ||||||||||
|
1.000 | 19 | 13298827 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 46 | 1988 | 2017 | ||||||||||
|
1.000 | 19 | 13298827 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 46 | 1988 | 2017 | ||||||||||
|
1.000 | 19 | 13298847 | frameshift variant | -/A | ins |
|
0.700 | 1.000 | 46 | 1988 | 2017 | ||||||||||
|
0.827 | 0.160 | 19 | 13303584 | missense variant | C/T | snv |
|
0.700 | 1.000 | 46 | 1988 | 2017 | |||||||||
|
0.827 | 0.160 | 19 | 13303584 | missense variant | C/T | snv |
|
0.700 | 1.000 | 46 | 1988 | 2017 | |||||||||
|
1.000 | 0.160 | X | 153725514 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 45 | 1981 | 2014 | |||||||||
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv |
|
0.900 | 1.000 | 42 | 1999 | 2017 | |||||||||
|
0.752 | 0.440 | 13 | 32379913 | splice region variant | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 41 | 1997 | 2017 | ||||||||
|
0.763 | 0.200 | 19 | 11105588 | stop gained | G/A;C;T | snv | 1.6E-05; 1.6E-05; 8.1E-06 |
|
0.700 | 1.000 | 40 | 1990 | 2017 | ||||||||
|
0.807 | 0.200 | X | 154031326 | stop gained | G/A;T | snv |
|
0.740 | 1.000 | 40 | 1999 | 2014 | |||||||||
|
0.851 | 0.160 | 3 | 37004444 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 39 | 1996 | 2013 | ||||||||
|
0.776 | 0.200 | 10 | 43113654 | missense variant | T/A;C;G | snv |
|
0.720 | 1.000 | 39 | 1993 | 2017 | |||||||||
|
9 | 128203597 | missense variant | G/A | snv |
|
0.700 | 1.000 | 38 | 1983 | 2017 | |||||||||||
|
1.000 | 9 | 128203604 | missense variant | G/A | snv |
|
0.700 | 1.000 | 38 | 1983 | 2017 | ||||||||||
|
1.000 | 9 | 128203604 | missense variant | G/A | snv |
|
0.700 | 1.000 | 38 | 1983 | 2017 | ||||||||||
|
1.000 | 9 | 128220205 | missense variant | G/T | snv |
|
0.700 | 1.000 | 38 | 1983 | 2017 | ||||||||||
|
1.000 | 9 | 128222543 | missense variant | G/A | snv |
|
0.700 | 1.000 | 38 | 1983 | 2017 | ||||||||||
|
0.790 | 0.120 | 11 | 47342578 | stop gained | C/A;G | snv | 1.3E-05 |
|
0.800 | 1.000 | 36 | 1990 | 2017 | ||||||||
|
0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 |
|
0.700 | 1.000 | 36 | 1989 | 2018 |