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 | 34648396 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34648438 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34646745 | frameshift variant | C/TT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34646705 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34647166 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34647139 | frameshift variant | GCTCA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34647212 | frameshift variant | CCCTCTCA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34647203 | missense variant | C/A;T | snv | 3.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 34647226 | frameshift variant | -/G | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34647224 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34647524 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 34647661 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34647706 | splice donor variant | G/A;T | snv | 8.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 34647846 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34647854 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34647936 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34647906 | missense variant | T/C | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34647916 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34647944 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 34647959 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34647963 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34648110 | splice region variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34648157 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34648159 | missense variant | C/A | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 34648135 | frameshift variant | -/G | ins | 0.700 | 0 |