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 | 0.120 | 11 | 17395230 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17404544 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17432203 | splice donor variant | C/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 17427884 | frameshift variant | TG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17416928 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17463602 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17461609 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17394337 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17442746 | frameshift variant | -/T | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17396962 | frameshift variant | TT/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17442884 | splice acceptor variant | T/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 17463606 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17410526 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17396915 | splice donor variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17443176 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17402659 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17395931 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17448672 | splice acceptor variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 17460677 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17404629 | missense variant | A/C;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 17404620 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17393086 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 17430839 | stop gained | G/A | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 17476966 | non coding transcript exon variant | G/A;C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 17463436 | splice donor variant | A/T | snv | 4.3E-06 | 0.700 | 0 |