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 | 1 | 198735253 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.120 | 1 | 198718267 | stop gained | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 5 | 35867437 | missense variant | G/A | snv | 1.2E-05 | 4.2E-05 | 0.700 | 1.000 | 5 | 2005 | 2016 | |||
|
2 | 0.925 | 0.120 | 5 | 35871070 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 1998 | 2000 | ||||
|
1 | 1.000 | 0.120 | 5 | 35867417 | synonymous variant | T/A;C | snv | 0.700 | 1.000 | 2 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.120 | 5 | 35860851 | splice acceptor variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.120 | 5 | 35867438 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 5 | 35873593 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 35873479 | splice acceptor variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 5 | 35867372 | frameshift variant | GAAA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 35874494 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 35871112 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 35860992 | splice donor variant | T/G | snv | 4.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 5 | 35873646 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 |