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 | 0.080 | 12 | 132643933 | frameshift variant | TA/- | delins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 12 | 132643933 | frameshift variant | TA/- | delins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
12 | 132659414 | synonymous variant | C/T | snv | 0.50 | 0.54 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 12 | 132672754 | missense variant | T/C | snv | 1.2E-05 | 1.2E-04 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 12 | 132672754 | missense variant | T/C | snv | 1.2E-05 | 1.2E-04 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 12 | 132673217 | missense variant | C/T | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 12 | 132673217 | missense variant | C/T | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.160 | 12 | 132673664 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.752 | 0.160 | 12 | 132673664 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.752 | 0.160 | 12 | 132673664 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.752 | 0.160 | 12 | 132673664 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.752 | 0.160 | 12 | 132673664 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.752 | 0.160 | 12 | 132673664 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.752 | 0.160 | 12 | 132673664 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.752 | 0.160 | 12 | 132673664 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.200 | 12 | 132673703 | missense variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2017 | |||||||||
|
0.776 | 0.200 | 12 | 132673703 | missense variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2017 | |||||||||
|
0.776 | 0.200 | 12 | 132673703 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.776 | 0.200 | 12 | 132673703 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.776 | 0.200 | 12 | 132673703 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.776 | 0.200 | 12 | 132673703 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.776 | 0.200 | 12 | 132673703 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.080 | 12 | 132675752 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.080 | 12 | 132675752 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.080 | 12 | 132675752 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |