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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.160 | 2 | 47805027 | splice donor variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47799597 | inframe deletion | CTT/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.160 | 2 | 47806490 | frameshift variant | -/GAGACTA | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47806652 | splice donor variant | G/C | snv | 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 | |||||||
|
3 | 1.000 | 0.160 | 2 | 47803466 | frameshift variant | AT/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47803626 | splice donor variant | GCCTATTGTGTGCTTGTTACTGGACCAAATATGGGGGGCAAGTCTACGCTTATGAGACAGGTAAC/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47805635 | frameshift variant | G/- | del | 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 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47806499 | frameshift variant | -/A;GGA | 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 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47806571 | frameshift variant | -/CTCCCAGAGGAAGTTATTCAAAA | 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 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 47806643 | splice donor variant | -/ATTT | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47798827 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47799022 | frameshift variant | -/C | ins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47799553 | stop gained | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47800298 | frameshift variant | -/GC | delins | 0.700 | 0 |