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 | 1 | 26779062 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 26697317 | frameshift variant | CTACCAGGGCTACCCCGGGG/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 26775086 | frameshift variant | -/A | delins | 0.700 | 0 | |||||||||
|
15 | 0.742 | 0.120 | 1 | 26697152 | frameshift variant | -/GCCGCCTCCCTCCTCCAGCGCC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 26729861 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
11 | 0.807 | 0.200 | 1 | 26767868 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 26780032 | frameshift variant | AAGTG/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 26766246 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
19 | 0.807 | 0.280 | 1 | 26773716 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 26696422 | frameshift variant | AGCAGCCTGGGCAACCCGCCGCCGCC/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 26696794 | frameshift variant | G/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 26779036 | missense variant | T/C | snv | 0.700 | 0 |