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 | 16 | 23636208 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23636261 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23607913 | frameshift variant | AGTCG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23607916 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23614075 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23624081 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23624084 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23629967 | frameshift variant | GG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23635333 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23635394 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23635407 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23635495 | frameshift variant | TT/AGA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23624082 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23630008 | frameshift variant | AT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23603528 | stop gained | C/A;T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 23626390 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 23623042 | frameshift variant | CTTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23626387 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23635685 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23624007 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23635785 | stop gained | G/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23636023 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23635968 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23622998 | frameshift variant | -/CTTGTTGA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 23630452 | stop gained | G/A;T | snv | 0.700 | 0 |