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 | 11 | 119025251 | stop gained | C/A;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 119027013 | inframe deletion | CAC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 119024957 | stop gained | G/A;T | snv | 4.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 119029260 | stop gained | G/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 119029293 | frameshift variant | GTAA/- | delins | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 11 | 119029220 | splice donor variant | A/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 119025188 | splice donor variant | -/A | delins | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 119025326 | splice acceptor variant | AGAGCTG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 119026038 | frameshift variant | -/GC | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 119026625 | frameshift variant | GTAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 119026635 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 119026668 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 119027045 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 119028205 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 119028298 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 119028305 | frameshift variant | -/AGCCAACCAGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 119028426 | missense variant | C/G;T | snv | 5.4E-06; 5.4E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 11 | 119027811 | missense variant | G/A | snv | 8.3E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 119028412 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 11 | 119029289 | missense variant | A/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 119027796 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 119026049 | missense variant | T/G | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 119027808 | missense variant | C/T | snv | 2.9E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 119027706 | missense variant | A/G | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 119029222 | missense variant | C/G;T | snv | 0.700 | 0 |