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 | 0.240 | 10 | 92613045 | missense variant | C/G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 1.000 | 0.240 | 10 | 92606655 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.240 | 10 | 92649894 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.240 | 10 | 92645436 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 10 | 92606297 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 10 | 92613455 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 10 | 92628878 | inframe deletion | GAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 10 | 92637444 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 10 | 92637546 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 10 | 92639863 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.240 | 10 | 92648211 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 10 | 92649986 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 10 | 92650449 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 10 | 92621415 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 10 | 92616741 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 10 | 92632583 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 10 | 92645644 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 10 | 92645393 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 10 | 92613376 | splice acceptor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 10 | 92630278 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 10 | 92593375 | start lost | CAT/AA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 10 | 92609068 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 10 | 92613033 | splice acceptor variant | TTTCTAGTCGTTCC/- | del | 0.700 | 0 |