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 | 0.160 | 2 | 47800549 | frameshift variant | GATT/- | delins | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.160 | 2 | 47798677 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.160 | 2 | 47799597 | inframe deletion | CTT/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 47799422 | missense variant | T/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 47799235 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 47799976 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 47806590 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 47805708 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47806234 | stop gained | -/AATAGCAAATGCAGTTGTTAAAGAACTTG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47806566 | stop gained | -/CTAATCTCCCAGAGGAAGTTAT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47806567 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47806571 | frameshift variant | -/CTCCCAGAGGAAGTTATTC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47806585 | frameshift variant | TATTCAAAAGGGACAT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47806614 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47800298 | frameshift variant | -/GC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47803432 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47806360 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47799914 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47800105 | stop gained | -/ATA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47795893 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47791125 | splice donor variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47795955 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47799460 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47798738 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47799597 | stop gained | TC/AG | mnv | 0.700 | 0 |