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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.200 | 11 | 108365400 | frameshift variant | -/G | delins | 0.700 | 1.000 | 3 | 2003 | 2015 | |||||
|
2 | 1.000 | 0.200 | 11 | 108325395 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.200 | 11 | 108315895 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 11 | 108365111 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 1.000 | 0.200 | 11 | 108310266 | frameshift variant | AT/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 11 | 108343373 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 11 | 108343323 | frameshift variant | TACA/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 11 | 108365110 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 11 | 108325509 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108329192 | frameshift variant | AA/- | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108345755 | stop gained | A/T | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.200 | 11 | 108327701 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 11 | 108310176 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 0.925 | 0.200 | 11 | 108365476 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 5 | 1996 | 2016 | |||
|
2 | 1.000 | 0.200 | 11 | 108330233 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 1996 | 2016 | ||||
|
1 | 11 | 108347309 | frameshift variant | AT/- | del | 8.0E-06 | 0.700 | 0 | |||||||||
|
1 | 11 | 108326163 | stop gained | C/G;T | snv | 0.700 | 1.000 | 2 | 2003 | 2006 | |||||||
|
3 | 0.925 | 0.280 | 11 | 108332765 | stop gained | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 4 | 1996 | 2004 | ||||
|
3 | 0.925 | 0.280 | 11 | 108315911 | missense variant | G/A | snv | 2.8E-05 | 7.0E-06 | 0.700 | 1.000 | 7 | 1999 | 2016 | |||
|
1 | 11 | 108335844 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 11 | 108315830 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.200 | 11 | 108332851 | frameshift variant | TATTA/- | delins | 4.0E-06 | 0.700 | 1.000 | 4 | 1996 | 2013 | ||||
|
3 | 0.925 | 0.120 | 11 | 108310218 | missense variant | G/C | snv | 1.3E-04 | 1.8E-04 | 0.700 | 0 | ||||||
|
1 | 11 | 108310188 | frameshift variant | GCT/CCTC | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108310250 | frameshift variant | C/- | del | 0.700 | 0 |