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 | 0.080 | 15 | 44660515 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44660476 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44660446 | inframe deletion | AATGAGCTTTTGCAATGCCTC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44660431 | splice donor variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 15 | 44659213 | frameshift variant | AATAT/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 44659091 | frameshift variant | AA/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44657259 | frameshift variant | AT/- | del | 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 44651712 | stop gained | G/A;C | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 44651665 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44649013 | splice acceptor variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 44648996 | frameshift variant | AG/- | delins | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 15 | 44648976 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 44648918 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44633572 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44633561 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44633529 | frameshift variant | AGTGATCAAACTGAT/TGGGAGTA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44633499 | splice donor variant | ACTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44629286 | frameshift variant | -/T | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44629278 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44626411 | frameshift variant | -/A | delins | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 15 | 44626377 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44622727 | splice donor variant | C/T | snv | 2.8E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 15 | 44622305 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 44622220 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 44622219 | splice donor variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 |