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 | 2 | 232481159 | splice region variant | G/A;C | snv | 0.700 | 0 | |||||||||
|
3 | 0.925 | 2 | 232486499 | frameshift variant | ACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGAAGCCCGG/- | delins | 3.3E-04 | 1.1E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 2 | 232486653 | start lost | T/A;C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 232481857 | splice region variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 232484199 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 232486145 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 232484863 | stop gained | G/A | snv | 2.8E-05 | 1.5E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 2 | 232486299 | inframe deletion | TCCAGGTTGGCG/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 232484469 | splice region variant | T/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 232486064 | missense variant | C/T | snv | 2.1E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 2 | 232482887 | stop gained | G/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 232482850 | splice donor variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 2 | 232481123 | missense variant | C/A;T | snv | 1.1E-05; 1.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 2 | 232480716 | splice donor variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 2 | 232483452 | stop gained | C/T | snv | 3.6E-05 | 1.1E-04 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
13 | 0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 2 | 232484472 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1.000 | 2 | 232484198 | missense variant | G/A | snv | 1.2E-05 | 0.800 | 1.000 | 4 | 2013 | 2014 | |||||
|
1 | 1.000 | 2 | 232484156 | missense variant | G/A;T | snv | 8.0E-06 | 0.800 | 1.000 | 4 | 2013 | 2014 | |||||
|
2 | 1.000 | 2 | 232480203 | missense variant | A/G | snv | 7.0E-06 | 0.800 | 1.000 | 4 | 2013 | 2014 |