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 | 1 | 40092080 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40078632 | frameshift variant | -/T | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 40092109 | frameshift variant | -/AAGT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40097185 | frameshift variant | TCCATGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40092448 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40097113 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40092044 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40074147 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40074185 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40078565 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40091328 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40091401 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40092069 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40092125 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40097218 | frameshift variant | GCAG/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 1 | 40092486 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40073532 | 3 prime UTR variant | TGAT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40097114 | splice donor variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 40092522 | intron variant | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 40092509 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40092494 | splice acceptor variant | -/ACA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40092469 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40092175 | splice region variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40092120 | protein altering variant | CACACTGTTGTTACTTG/AA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40092097 | stop gained | T/A;C | snv | 1.2E-05 | 0.700 | 0 |