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 | 16 | 2110081 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 4 | 88007878 | stop gained | C/T | snv | 1.4E-05 | 0.700 | 0 | |||||||||
|
1 | 16 | 2105909 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||||
|
1 | 16 | 2092534 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 16 | 2094014 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 16 | 2090777 | stop gained | C/T | snv | 4.1E-06 | 0.700 | 0 | |||||||||
|
2 | 16 | 2111647 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
2 | 16 | 2091794 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 16 | 2117844 | stop gained | G/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 16 | 2090140 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 16 | 2092144 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 16 | 2097160 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 16 | 2102583 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 16 | 2105412 | frameshift variant | AT/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 16 | 2109358 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 16 | 2111276 | inframe insertion | -/GTG | ins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 6 | 51847966 | stop gained | G/T | snv | 2.0E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.120 | 6 | 52058355 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 20 | 10412556 | frameshift variant | AG/- | delins | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.120 | 16 | 2097376 | stop gained | C/A;T | snv | 4.1E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.120 | 16 | 2090962 | frameshift variant | AGTGAAGCGGCGCGGGCGGCCGCGCA/TCACTAGCTT | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 11 | 111840653 | splice donor variant | A/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 4 | 88008090 | frameshift variant | CCCGGGCA/TAGGACG | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.080 | 6 | 52024728 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 4 | 88036325 | frameshift variant | CT/- | delins | 0.700 | 0 |