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 | 5 | 119496546 | stop gained | C/G | snv | 0.700 | 0 | ||||||||||
|
1 | 5 | 119514979 | splice acceptor variant | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 5 | 119479003 | frameshift variant | ACAG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 119531316 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 119506824 | stop gained | T/G | snv | 0.700 | 0 | ||||||||||
|
1 | 5 | 119489275 | frameshift variant | TTTG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 119514983 | frameshift variant | AG/- | del | 0.700 | 0 | ||||||||||
|
1 | 5 | 119527167 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 119475871 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||||
|
1 | 5 | 119506854 | frameshift variant | GATA/- | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 119499315 | splice acceptor variant | A/C | snv | 0.700 | 0 | ||||||||||
|
1 | 5 | 119531344 | frameshift variant | GTAAA/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.280 | 5 | 119525970 | frameshift variant | -/GTGT | delins | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 5 | 119478832 | splice acceptor variant | A/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||||
|
1 | 5 | 119473907 | splice acceptor variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 5 | 119474017 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | 5 | 119474447 | frameshift variant | T/- | delins | 7.0E-06 | 0.700 | 0 | |||||||||
|
1 | 5 | 119452630 | splice donor variant | CAGGTG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 119474400 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||||
|
1 | 5 | 119475704 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||||
|
1 | 5 | 119489191 | splice acceptor variant | G/A;T | snv | 0.700 | 0 | ||||||||||
|
1 | 5 | 119499315 | splice donor variant | CTGGAGCTATTGGCCAGAAACTCCCTCCATTTTCTTATGCTTATACGGAACTGGAAGCTATTATGTATGCCCTTGGAGTGGGAGCGTCAATCAAGGATCCAAAAGATTTGAAATTTATTTATGAAGGAAGTTCTGATTTCTCCTGTTTGCCCACCTTCGGAGTTATCATAGGTCAGAAATCTATGATGGGTGGAGGATTAGCAGAAATTCCTGGACTTTCAATCAACTTTGCAAAGG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 119502039 | splice donor variant | TCTTCATGGAGAGCAGTACTTAGAGTTATATAAACCACTTCCCAGAGCAGGT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 119502040 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 5 | 119509139 | splice acceptor variant | A/T | snv | 0.700 | 0 |