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 | 95116453 | frameshift variant | TTTTC/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 14 | 95117624 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 14 | 95103871 | protein altering variant | AATTGCTGTA/T | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95103943 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95116479 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 14 | 95124611 | frameshift variant | TTTATCTGCACACC/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 14 | 95099856 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
1 | 14 | 95096067 | stop gained | G/A;T | snv | 2.4E-05 | 0.700 | 0 | |||||||||
|
2 | 1.000 | 0.040 | 14 | 95113166 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 14 | 95099779 | splice donor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 14 | 95103345 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 14 | 95124428 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 14 | 95124385 | frameshift variant | TCA/G | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 14 | 95117723 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 14 | 95115787 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 14 | 95115746 | frameshift variant | -/CT | ins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 14 | 95115691 | frameshift variant | ATTG/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 14 | 95112226 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 14 | 95111414 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 14 | 95111329 | stop gained | GC/TT | mnv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 14 | 95111326 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 14 | 95108367 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 14 | 95107663 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 14 | 95106139 | frameshift variant | AG/- | del | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 14 | 95104116 | frameshift variant | TTAG/- | delins | 0.700 | 0 |