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 | 0.120 | 4 | 127943829 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.800 | 0 | |||||||||||
|
0.925 | 0.120 | 4 | 127930800 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.800 | 1.000 | 0 | 2007 | 2012 | ||||||||
|
1.000 | 4 | 127921956 | missense variant | C/G;T | snv | 2.4E-03; 4.0E-06 |
|
0.800 | 1.000 | 0 | 2015 | 2015 | |||||||||
|
1.000 | 0.120 | 4 | 127921639 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 |
|
0.800 | 1.000 | 0 | 2007 | 2012 | |||||||
|
1.000 | 0.120 | 4 | 127943775 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.800 | 1.000 | 0 | 2007 | 2012 | ||||||||
|
0.925 | 0.120 | 4 | 127938781 | splice donor variant | A/T | snv | 8.0E-06 | 2.8E-05 |
|
0.700 | 1.000 | 5 | 2007 | 2015 | |||||||
|
1.000 | 0.120 | 4 | 127921639 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 |
|
0.700 | 1.000 | 3 | 2009 | 2012 | |||||||
|
0.925 | 0.120 | 4 | 127920743 | stop gained | G/A | snv | 2.0E-05 | 2.8E-05 |
|
0.700 | 1.000 | 3 | 2009 | 2018 | |||||||
|
1.000 | 0.120 | 4 | 127942160 | splice acceptor variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
4 | 127938782 | splice donor variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.120 | 4 | 127930752 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 4 | 127921588 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 4 | 127930787 | stop gained | A/C;G | snv | 4.0E-06; 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 4 | 127930800 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 4 | 127921926 | frameshift variant | C/- | del | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 4 | 127921876 | frameshift variant | G/- | delins | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
4 | 127939999 | splice acceptor variant | T/A | snv |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.120 | 4 | 127957591 | splice acceptor variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 4 | 127932984 | splice donor variant | C/G;T | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 4 | 127942073 | stop gained | A/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 4 | 127938781 | splice donor variant | A/T | snv | 8.0E-06 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 4 | 127921733 | stop gained | C/A | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 4 | 127921733 | stop gained | C/A | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 4 | 127920743 | stop gained | G/A | snv | 2.0E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 4 | 127921860 | missense variant | C/G | snv |
|
0.700 | 0 |