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 | 9 | 36227371 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36222794 | frameshift variant | AACAAAGT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36223372 | splice donor variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36223501 | splice acceptor variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36234046 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36236946 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 36246209 | frameshift variant | TAGA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36222993 | frameshift variant | A/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 36217511 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 9 | 36233993 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36246075 | stop gained | G/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 36218228 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 36246259 | frameshift variant | T/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 36219914 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36236920 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36236961 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36236970 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36249361 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36246202 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 9 | 36276927 | stop gained | A/G;T | snv | 8.1E-06; 2.0E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 36246472 | stop gained | G/A | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 9 | 36229018 | splice donor variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36219984 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 36219968 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 9 | 36249352 | stop gained | C/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 |