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 | 0.925 | 0.240 | 19 | 13075673 | splice donor variant | T/C | snv | 0.700 | 1.000 | 2 | 2010 | 2015 | |||||
|
1 | 1.000 | 0.120 | 19 | 13075547 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.240 | 19 | 13025350 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.360 | 19 | 13025409 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 13075641 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 19 | 13025129 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 19 | 13073055 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 13078665 | frameshift variant | TC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 13078691 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 13078659 | frameshift variant | CTCTC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 13078703 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 13081843 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 13078650 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 13078613 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 13075672 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 13081680 | frameshift variant | GAGCCCCCGGGCCACAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 13078626 | frameshift variant | AA/- | delins | 0.700 | 0 |