Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 8 | 63072990 | missense variant | A/C | snv | 4.0E-06 |
|
0.800 | 1.000 | 0 | 1995 | 2014 | ||||||||
|
0.925 | 0.120 | 8 | 63064294 | missense variant | C/T | snv | 5.6E-05 | 9.8E-05 |
|
0.800 | 1.000 | 0 | 1995 | 2004 | |||||||
|
1.000 | 0.120 | 8 | 63072935 | missense variant | C/T | snv | 3.2E-05 | 7.7E-05 |
|
0.800 | 1.000 | 0 | 1995 | 2014 | |||||||
|
1.000 | 0.120 | 8 | 63064208 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 |
|
0.800 | 1.000 | 0 | 2010 | 2014 | |||||||
|
1.000 | 0.120 | 8 | 63066035 | stop gained | C/A;T | snv | 4.0E-06; 2.4E-05 |
|
0.800 | 1.000 | 0 | 1995 | 2014 | ||||||||
|
1.000 | 0.120 | 8 | 63061353 | missense variant | C/G | snv |
|
0.800 | 1.000 | 0 | 1995 | 2014 | |||||||||
|
0.925 | 0.120 | 8 | 63065942 | frameshift variant | -/AA | ins | 9.8E-05 |
|
0.700 | 1.000 | 10 | 1995 | 2015 | ||||||||
|
0.925 | 0.120 | 8 | 63066056 | stop gained | G/A | snv | 2.4E-05 | 3.5E-05 |
|
0.700 | 1.000 | 7 | 1998 | 2015 | |||||||
|
0.925 | 0.120 | 8 | 63061345 | frameshift variant | T/- | delins |
|
0.700 | 1.000 | 6 | 1995 | 2015 | |||||||||
|
0.925 | 0.120 | 8 | 63065969 | frameshift variant | A/- | delins | 5.6E-05 |
|
0.700 | 1.000 | 4 | 1996 | 2004 | ||||||||
|
1.000 | 0.120 | 8 | 63086020 | start lost | A/G;T | snv |
|
0.700 | 1.000 | 2 | 1985 | 1999 | |||||||||
|
1.000 | 0.120 | 8 | 63073089 | splice acceptor variant | C/A;G;T | snv | 8.1E-06; 4.0E-06 |
|
0.700 | 1.000 | 2 | 1998 | 2014 | ||||||||
|
1.000 | 0.120 | 8 | 63073064 | stop gained | TCC/AAT | mnv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.120 | 8 | 63065902 | splice donor variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.120 | 8 | 63086009 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 8 | 63072980 | stop gained | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 8 | 63066015 | frameshift variant | T/- | del |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 8 | 63072990 | missense variant | A/C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 8 | 63064294 | missense variant | C/T | snv | 5.6E-05 | 9.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 8 | 63066056 | stop gained | G/A | snv | 2.4E-05 | 3.5E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 8 | 63086021 | start lost | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 8 | 63085904 | frameshift variant | CTTCCCGGGCCCGGCGCCGCAGCGCCGCCAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 8 | 63085917 | frameshift variant | GCCGCAGCGCCGCCAGGCCCGGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 8 | 63064312 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 8 | 63065925 | frameshift variant | CT/ACTTAC | delins |
|
0.700 | 0 |