| 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 | 3 | 52407210 | stop gained | C/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52406844 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52403729 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52408607 | splice acceptor variant | C/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52403193 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52408548 | stop gained | T/A | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 3 | 52408473 | splice donor variant | C/A;T | snv | 0.700 | 0 | |||||||||
|
7 | 0.851 | 0.080 | 3 | 52403251 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 52403786 | frameshift variant | TT/- | delins | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 52407235 | stop gained | A/C;G | snv | 1.6E-04 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 52402675 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 3 | 52403449 | frameshift variant | -/A | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52403681 | frameshift variant | G/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52403766 | stop gained | G/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52404489 | stop gained | CGTCATCCTCAT/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52404517 | frameshift variant | -/T | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 3 | 52404550 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52405858 | frameshift variant | -/T | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52405864 | frameshift variant | -/T | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52406277 | frameshift variant | -/T | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52406901 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52407173 | splice donor variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52407236 | frameshift variant | -/A | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52409558 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52409585 | frameshift variant | C/- | delins | 0.700 | 0 |