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 | 2 | 43974244 | missense variant | G/A | snv | 5.6E-05 | 7.0E-06 | 0.810 | 1.000 | 4 | 2003 | 2011 | |||
|
1 | 1.000 | 0.120 | 2 | 43918043 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 2 | 43979825 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 43995946 | start lost | A/C;T | snv | 8.3E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 43925943 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 2 | 43918128 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 43976993 | splice donor variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 43918289 | frameshift variant | CTCT/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 43943741 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 43982330 | stop gained | C/T | snv | 4.0E-06; 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 2 | 43889733 | splice donor variant | C/T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 43889732 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 43899499 | frameshift variant | ACTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 43918311 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 43925962 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 43934189 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 43934825 | frameshift variant | TTATACTTTTCATA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 43934879 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 43945331 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 43946244 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 43947365 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 43948410 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 43957422 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 43963691 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 43973793 | splice donor variant | A/G | snv | 0.700 | 0 |