Source: ALL
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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.160 | 20 | 50892557 | stop gained | G/A;C;T | snv | 2.0E-05 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.160 | 20 | 50892220 | frameshift variant | AATT/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.160 | 20 | 50892215 | frameshift variant | TTTA/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
25 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 20 | 50892395 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 50894197 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 50892557 | stop gained | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 50892517 | frameshift variant | AACT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 50892997 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 50893491 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 50893981 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 50902039 | frameshift variant | -/CC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 50893503 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 20 | 50891906 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.240 | 20 | 50892526 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 50902027 | frameshift variant | -/T | delins | 0.700 | 0 |