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 | 9 | 108900303 | missense variant | C/G;T | snv | 9.9E-05 | 0.800 | 1.000 | 3 | 2001 | 2002 | ||||
|
1 | 1.000 | 0.080 | 9 | 108899816 | splice region variant | A/G | snv | 6.5E-04 | 5.0E-04 | 0.700 | 1.000 | 8 | 1998 | 2016 | |||
|
1 | 1.000 | 0.080 | 9 | 108882123 | splice donor variant | A/G | snv | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.080 | 9 | 108897035 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.080 | 9 | 108899868 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 108899821 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 108911009 | splice donor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 108892985 | splice donor variant | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 9 | 108930995 | coding sequence variant | -/CTCTT | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 9 | 108874894 | splice donor variant | C/A;T | snv | 4.8E-05 | 1.2E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 9 | 108878150 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 108896951 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 108898750 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 108901424 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 108901626 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 108901633 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 108902838 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 108902944 | splice acceptor variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 108906476 | frameshift variant | AA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 108912263 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 108922840 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 108926605 | splice acceptor variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 108927371 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 108929922 | splice acceptor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 108930996 | splice donor variant | C/T | snv | 0.700 | 0 |