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 | X | 123886049 | frameshift variant | ACAG/- | delins | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 1.000 | 0.120 | X | 123886326 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2011 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 123886228 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | X | 123886014 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 123886374 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 123885767 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 123885954 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 123886312 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 123886331 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 123891281 | frameshift variant | AA/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | X | 123900534 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 123891305 | splice donor variant | GAG/- | delins | 2.5E-04 | 1.3E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | X | 123886270 | missense variant | G/A | snv | 5.5E-06 | 0.700 | 0 |