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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 11 | 119344393 | splice acceptor variant | T/A;C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 119346116 | stop gained | C/T | snv | 1.3E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 119345432 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 119342978 | frameshift variant | GGG/-;GG;GGGG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 119345563 | frameshift variant | G/-;GG | delins | 1.2E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 119344339 | stop gained | G/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 119341663 | frameshift variant | CAGA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 119341739 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 119346324 | frameshift variant | -/G | delins | 8.1E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 119345803 | stop gained | C/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 119345569 | frameshift variant | -/A;GA | ins | 0.700 | 1.000 | 2 | 2010 | 2014 | |||||
|
1 | 1.000 | 0.120 | 11 | 119344332 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 |