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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 16 | 3731235 | missense variant | C/T | snv |
|
0.700 | 1.000 | 18 | 1963 | 2017 | ||||||||||
|
0.925 | 0.120 | 16 | 3738605 | missense variant | A/G | snv |
|
0.700 | 1.000 | 18 | 1963 | 2017 | |||||||||
|
0.925 | 0.120 | 16 | 3738605 | missense variant | A/G | snv |
|
0.700 | 1.000 | 18 | 1963 | 2017 | |||||||||
|
0.925 | 0.120 | 16 | 3738605 | missense variant | A/G | snv |
|
0.700 | 1.000 | 18 | 1963 | 2017 | |||||||||
|
16 | 3744921 | stop gained | G/A | snv |
|
0.700 | 1.000 | 18 | 1963 | 2017 | |||||||||||
|
16 | 3757990 | frameshift variant | T/- | del |
|
0.700 | 1.000 | 18 | 1963 | 2017 | |||||||||||
|
0.827 | 0.160 | 16 | 3728723 | stop gained | G/A;T | snv | 5.2E-05 |
|
0.700 | 1.000 | 18 | 1963 | 2017 | ||||||||
|
0.925 | 0.120 | 16 | 3736801 | missense variant | T/C | snv |
|
0.700 | 1.000 | 18 | 1963 | 2017 | |||||||||
|
0.925 | 0.120 | 16 | 3736801 | missense variant | T/C | snv |
|
0.700 | 1.000 | 18 | 1963 | 2017 | |||||||||
|
0.925 | 0.120 | 16 | 3778699 | splice donor variant | C/A;T | snv |
|
0.700 | 1.000 | 3 | 2006 | 2016 | |||||||||
|
0.925 | 0.120 | 16 | 3729405 | frameshift variant | CT/- | delins |
|
0.700 | 1.000 | 3 | 2005 | 2011 | |||||||||
|
0.925 | 0.120 | 16 | 3749626 | splice donor variant | C/G;T | snv |
|
0.700 | 1.000 | 3 | 2005 | 2008 | |||||||||
|
0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.360 | 16 | 3738617 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.360 | 16 | 3738617 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |