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 | 4 | 5793606 | splice acceptor variant | A/G | snv | 6.4E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.120 | 4 | 5810377 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 4 | 5804736 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 4 | 5793722 | splice region variant | G/A;T | snv | 6.5E-06; 6.5E-06 | 0.700 | 1.000 | 3 | 2000 | 2013 | ||||
|
1 | 1.000 | 0.120 | 4 | 5748268 | stop gained | G/A;T | snv | 2.8E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 4 | 5797013 | splice acceptor variant | CAAAGGTCCACGCGGTGTGTCCT/- | delins | 1.5E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 5798585 | splice acceptor variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 4 | 5783656 | stop gained | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 5783666 | stop gained | G/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 4 | 5753840 | frameshift variant | G/- | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 4 | 5756337 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 4 | 5783682 | frameshift variant | C/- | del | 1.2E-04 | 0.700 | 1.000 | 2 | 2007 | 2013 | ||||
|
1 | 1.000 | 0.120 | 4 | 5783672 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 5753797 | missense variant | G/A | snv | 1.8E-02 | 7.1E-02 | 0.700 | 1.000 | 3 | 2000 | 2010 | |||
|
2 | 0.925 | 0.160 | 4 | 5753048 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 5808328 | splice donor variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 5808305 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 5804842 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 5802095 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 5798794 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 5798652 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 5797233 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 5793644 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2007 | 2010 | |||||
|
1 | 1.000 | 0.120 | 4 | 5783550 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 5756352 | frameshift variant | -/A | delins | 0.700 | 0 |