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 | 0.120 | 5 | 112834985 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 5 | 112819250 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 5 | 112775703 | frameshift variant | CTA/TT | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 5 | 112838220 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 5 | 112841166 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 5 | 112815499 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112775676 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112754904 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112754964 | frameshift variant | AA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112754995 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112767354 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112767385 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112780798 | frameshift variant | AACA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 112792467 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112792483 | frameshift variant | ACTT/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 5 | 112792497 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112792509 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112818964 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112819090 | frameshift variant | -/AAGGATGATAT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112827146 | stop gained | TG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112827226 | splice donor variant | TGGAGATGTAGCCAACAAGGTATGTTTTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112827236 | frameshift variant | -/TA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112827943 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112827994 | frameshift variant | ACTTACAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112828861 | frameshift variant | -/G | delins | 0.700 | 0 |