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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.882 | 0.160 | 11 | 103155395 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.120 | 5 | 149960981 | splice donor variant | T/C | snv | 5.4E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 5 | 149977699 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 5 | 149977707 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 5 | 149977837 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 5 | 149977840 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 5 | 149977857 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 5 | 149977886 | frameshift variant | -/GCAGT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 149977906 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 149977983 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 5 | 149978041 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 1996 | 1996 | |||||
|
1 | 1.000 | 0.120 | 5 | 149978050 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.120 | 5 | 149978135 | frameshift variant | TG/- | delins | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 5 | 149978148 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.120 | 5 | 149978184 | stop gained | C/T | snv | 1.3E-04 | 1.2E-04 | 0.700 | 1.000 | 5 | 1996 | 2011 | |||
|
4 | 0.851 | 0.120 | 5 | 149978193 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 5 | 149978353 | splice donor variant | T/C | snv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 0.925 | 0.120 | 5 | 149980292 | splice acceptor variant | G/C | snv | 4.9E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 5 | 149980296 | frameshift variant | GATGGGC/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 5 | 149980326 | frameshift variant | GTCT/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 5 | 149980339 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.200 | 5 | 149980428 | missense variant | C/T | snv | 9.8E-04 | 1.0E-03 | 0.750 | 1.000 | 18 | 1996 | 2016 | |||
|
1 | 1.000 | 0.120 | 5 | 149980496 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 5 | 149980511 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 5 | 149980515 | frameshift variant | A/- | del | 0.700 | 0 |