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 | 0.080 | 8 | 31157462 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 31154622 | splice region variant | AGAC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 31064304 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 31141490 | frameshift variant | AACA/- | delins | 5.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 31067052 | frameshift variant | G/- | delins | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 31090857 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 31064288 | splice acceptor variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 8 | 31141495 | frameshift variant | AG/- | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 31124556 | stop gained | C/T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 31147052 | splice acceptor variant | G/A;T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 31143616 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 31088891 | frameshift variant | C/- | del | 2.8E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 8 | 31065045 | frameshift variant | GA/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 31058455 | frameshift variant | A/-;AA | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 31120338 | frameshift variant | -/AT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 31142702 | splice donor variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 8 | 31111628 | frameshift variant | AC/- | delins | 4.0E-06 | 2.8E-05 | 0.700 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.080 | 8 | 31111720 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.080 | 8 | 31068326 | splice donor variant | GGTA/- | delins | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 8 | 31085164 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 8 | 31141776 | splice donor variant | G/C | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 8 | 31064962 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 8 | 31064934 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 8 | 31111747 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 8 | 31091900 | splice donor variant | T/G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 |