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 | 0.200 | 19 | 43526628 | splice donor variant | T/C | snv | 0.800 | 1.000 | 3 | 2004 | 2012 | |||||
|
1 | 1.000 | 0.200 | 19 | 43526609 | frameshift variant | CT/- | delins | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 5 | 2004 | 2018 | |||
|
1 | 1.000 | 0.200 | 19 | 43526514 | splice donor variant | C/A | snv | 0.700 | 1.000 | 2 | 2004 | 2009 | |||||
|
1 | 1.000 | 0.200 | 19 | 43527175 | start lost | C/A;T | snv | 7.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 19 | 43527256 | intron variant | CGGGG/-;CGGGGCGGGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 19 | 43526346 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 19 | 43526518 | frameshift variant | -/T | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 19 | 43527112 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 19 | 43527144 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 19 | 43526577 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 19 | 43526554 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 19 | 43527099 | stop gained | G/A;T | snv | 1.3E-05; 6.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 19 | 43526196 | splice region variant | C/T | snv | 1.2E-05 | 0.700 | 0 |