| 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 | 1.000 | 3 | 9443354 | frameshift variant | -/T | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 9441704 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 9435882 | splice donor variant | CCAAAGACGAAGAAAATCAAGGTATGCAGGGTAAAAATATCTTAAATAGAAATTGTCTGAAATAGCTTAAATTTTGGAGCA/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 9447685 | splice acceptor variant | G/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 9447796 | frameshift variant | -/A | ins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 9447834 | stop gained | C/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 9464455 | frameshift variant | -/T | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 9474583 | splice donor variant | G/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 9475610 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 9453780 | frameshift variant | AT/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 9474582 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 9445055 | stop gained | A/G;T | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 3 | 9448459 | frameshift variant | CA/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 9470735 | stop gained | C/G;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 9475532 | frameshift variant | -/G | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 9448586 | stop gained | C/T | snv | 0.700 | 0 |