Source: ALL
| 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 | 0.280 | 18 | 7050692 | splice donor variant | A/C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.280 | 18 | 6956768 | splice region variant | GTAGAAACAAGAG/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.280 | 18 | 7016663 | frameshift variant | TA/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.280 | 18 | 7050727 | stop gained | A/C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.280 | 18 | 6973130 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.280 | 18 | 6977724 | splice region variant | C/G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
15 | 0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 18 | 6956661 | frameshift variant | -/CTTGCTG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 18 | 7023202 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 18 | 7032124 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
13 | 0.790 | 0.360 | 18 | 6985616 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 18 | 7016494 | frameshift variant | T/- | del | 1.2E-05 | 2.8E-05 | 0.700 | 0 |