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 | 1 | 75761221 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75732860 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75761135 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 75761125 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75724788 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75732694 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75761247 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75728489 | splice donor variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 75761231 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 75732688 | frameshift variant | T/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 75728417 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75745889 | missense variant | C/A;T | snv | 2.9E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 75724790 | start lost | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75732924 | splice donor variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75739978 | splice acceptor variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75745916 | splice donor variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75749417 | splice acceptor variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75749536 | frameshift variant | GCT/CC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75762691 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75734857 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75749504 | stop gained | GTGACGGAGC/TTTAA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75761126 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75732869 | missense variant | T/C | snv | 2.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 75761160 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75734838 | frameshift variant | T/- | delins | 4.0E-06 | 0.700 | 0 |