Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 16 | 68737427 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 16 | 68823562 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 16 | 68829743 | frameshift variant | GGTATCTTCCCCGCCCTGCC/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 16 | 68812233 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 16 | 68822202 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
7 | 0.807 | 0.400 | 16 | 68813322 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 16 | 68801789 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.080 | 16 | 68815681 | frameshift variant | CGAGGAC/- | delins | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 1.000 | 0.080 | 16 | 68828302 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.080 | 16 | 68738372 | frameshift variant | CCC/T | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.807 | 0.400 | 16 | 68801726 | stop gained | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 16 | 68828274 | stop gained | T/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 16 | 68823404 | stop gained | G/C;T | snv | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
14 | 0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 16 | 68829653 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 68810201 | frameshift variant | TC/- | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 16 | 68829679 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 68801820 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 16 | 68815725 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 16 | 68810229 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 16 | 68810290 | stop gained | G/A;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 68823557 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 68822190 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 68823566 | stop gained | G/A;C;T | snv | 1.7E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 68801709 | frameshift variant | -/T | delins | 0.700 | 0 |