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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 6 | 123503899 | stop gained | G/A | snv | 3.1E-05 | 5.6E-05 | 0.700 | 1.000 | 2 | 2012 | 2015 | |||
|
2 | 0.925 | 0.080 | 6 | 123571099 | frameshift variant | GTCT/- | delins | 2.8E-05 | 2.2E-04 | 0.700 | 1.000 | 2 | 2012 | 2015 | |||
|
1 | 1.000 | 0.080 | 6 | 123503894 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 6 | 123512344 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 123265318 | frameshift variant | T/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 123516162 | stop gained | T/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 123512339 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 123570921 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 123337664 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 123515647 | splice donor variant | GGCATGAAATGGGAGCCAGTAGGCTGGGAGCAAGGTGAGAGGAAGGTTTTCACAAAGTATCTTTATGTGTTGAGCAATTAGAACTTATTATCTATTCTACATAAATAAATAACAATTAGAAATTAAAGCAATCTAATAGATAATCAAAATATGCAAGTTATAATAATGAGATCTACTTTCTTACCTATCAAACTGACAAGTATTTCTGATATAATATCCTCACTGCTGGCTAAGGCAGTCTCAAAACTGCCAGAGGAAAAACTGACGCAACATTTCTGGAAAGTTACCACTTTCCAGTTCAACAGTTCTTAACAGTCTGAAGTATTTTATTTCTCTCAATCCAGAAATTCCTTTTTTCAGATTCTATTCTGAGAAAATAATCCTAATCTAATTTGTAAAACTGCGTGGTCATCTAAAATCTGAATGTAAAGAGTAGGAAGTCAATGGGAAAGGACTCAGTGTGTTAAACAGTAATAAAAGTAACTTCATACCTTTCTTTTCAGGTTTTTCTTTTTCTCTTACTTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 123366174 | stop gained | G/A;C | snv | 1.3E-04; 5.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 123438062 | splice donor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 123255098 | stop gained | A/C | snv | 2.9E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 6 | 123255870 | frameshift variant | TCTT/- | delins | 2.6E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 123255108 | frameshift variant | TT/- | delins | 2.2E-05 | 1.4E-05 | 0.700 | 0 |