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 | X | 53415163 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | X | 53409218 | frameshift variant | -/G | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53382296 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53381057 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53383124 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53415155 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53422506 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53380142 | inframe deletion | GAGGTCGAAGGT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53381064 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53382640 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.200 | X | 53405268 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53409491 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53409150 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53405650 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53405527 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53403659 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53383157 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53380681 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53413300 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53413261 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53413140 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | X | 53383255 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53411871 | inframe deletion | CTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53405255 | inframe deletion | TCT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53399704 | missense variant | C/T | snv | 0.700 | 0 |