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 | 14 | 95091297 | inframe insertion | -/ATCCCCCAT | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95093887 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 14 | 95093953 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 14 | 95094017 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 14 | 95094148 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 14 | 95095936 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 14 | 95095958 | frameshift variant | -/CT | delins | 0.700 | 0 | ||||||||
|
1 | 14 | 95095994 | frameshift variant | ACAA/- | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95096067 | stop gained | G/A;T | snv | 2.4E-05 | 0.700 | 0 | |||||||||
|
1 | 14 | 95096108 | stop gained | G/T | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 95096262 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95096266 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 95096282 | stop gained | -/T | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 14 | 95096299 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 14 | 95096314 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
1 | 14 | 95096365 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 14 | 95096387 | stop gained | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
2 | 1.000 | 0.040 | 14 | 95096403 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 14 | 95096461 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 14 | 95096510 | frameshift variant | AAGA/- | delins | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | 14 | 95096512 | frameshift variant | AA/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 14 | 95096608 | frameshift variant | TCAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 14 | 95096635 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||||
|
1 | 14 | 95096655 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 14 | 95099779 | splice donor variant | C/A;G | snv | 0.700 | 0 |