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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 |
|
0.800 | 1.000 | 47 | 1982 | 2019 | ||||||||
|
0.776 | 0.160 | 14 | 94380925 | missense variant | T/A | snv | 2.3E-02 | 2.9E-02 |
|
0.750 | 1.000 | 14 | 1989 | 2019 | |||||||
|
0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 |
|
0.730 | 1.000 | 1 | 1985 | 2017 | ||||||||
|
0.882 | 0.160 | 14 | 94382823 | missense variant | C/T | snv | 9.1E-05 | 3.5E-05 |
|
0.710 | 1.000 | 1 | 1990 | 1990 | |||||||
|
0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 |
|
0.710 | 1.000 | 1 | 1985 | 2015 | ||||||||
|
0.776 | 0.160 | 14 | 94380925 | missense variant | T/A | snv | 2.3E-02 | 2.9E-02 |
|
0.710 | 1.000 | 0 | 2015 | 2015 | |||||||
|
1.000 | 0.160 | 14 | 94378529 | missense variant | G/A;T | snv | 2.9E-04 |
|
0.700 | 1.000 | 12 | 1989 | 2016 | ||||||||
|
0.882 | 0.160 | 14 | 94383051 | missense variant | G/A | snv | 1.1E-03 | 1.5E-03 |
|
0.700 | 1.000 | 11 | 1987 | 2016 | |||||||
|
0.882 | 0.160 | 14 | 94383009 | inframe deletion | AGA/- | delins | 1.7E-04 |
|
0.700 | 1.000 | 9 | 1983 | 2014 | ||||||||
|
0.882 | 0.160 | 14 | 94380949 | missense variant | T/A | snv | 4.7E-04 | 3.3E-04 |
|
0.700 | 1.000 | 7 | 1989 | 2011 | |||||||
|
0.882 | 0.160 | 14 | 94378528 | missense variant | G/A;C;T | snv | 4.8E-05; 1.2E-05; 3.2E-05 |
|
0.700 | 1.000 | 7 | 1989 | 2016 | ||||||||
|
0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 |
|
0.700 | 1.000 | 6 | 1983 | 2015 | ||||||||
|
0.882 | 0.160 | 14 | 94383044 | missense variant | A/G | snv | 4.4E-05 | 3.5E-05 |
|
0.700 | 1.000 | 6 | 1988 | 2014 | |||||||
|
0.882 | 0.160 | 14 | 94383008 | missense variant | G/A | snv | 1.4E-04 |
|
0.700 | 1.000 | 6 | 1991 | 2011 | ||||||||
|
1.000 | 0.160 | 14 | 94382686 | stop gained | G/A;C;T | snv | 1.9E-04; 1.6E-05; 4.0E-06 |
|
0.700 | 1.000 | 4 | 1987 | 2008 | ||||||||
|
0.882 | 0.160 | 14 | 94381067 | stop gained | T/A | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 1.000 | 4 | 1988 | 2008 | |||||||
|
1.000 | 0.160 | 14 | 94378576 | frameshift variant | A/-;AA | delins |
|
0.700 | 1.000 | 4 | 1989 | 2016 | |||||||||
|
0.882 | 0.160 | 14 | 94378548 | frameshift variant | G/-;GG | delins | 4.2E-05 |
|
0.700 | 1.000 | 4 | 1994 | 2011 | ||||||||
|
1.000 | 0.160 | 14 | 94378591 | frameshift variant | GCAGCTTC/TGTTTTT | delins |
|
0.700 | 1.000 | 4 | 1989 | 2016 | |||||||||
|
0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||
|
0.776 | 0.160 | 14 | 94380925 | missense variant | T/A | snv | 2.3E-02 | 2.9E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
0.776 | 0.160 | 14 | 94380925 | missense variant | T/A | snv | 2.3E-02 | 2.9E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.882 | 0.160 | 14 | 94382966 | missense variant | C/T | snv |
|
0.700 | 1.000 | 2 | 1990 | 2004 | |||||||||
|
0.882 | 0.160 | 14 | 94382891 | missense variant | A/T | snv |
|
0.700 | 1.000 | 2 | 1990 | 2004 |