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 | 0.120 | 9 | 35076442 | stop gained | G/A | snv | 4.0E-06 |
|
0.710 | 1.000 | 2 | 2003 | 2015 | ||||||||
|
0.925 | 0.120 | 9 | 35075278 | splice donor variant | C/A;G | snv | 2.0E-05 |
|
0.700 | 1.000 | 3 | 1998 | 2012 | ||||||||
|
0.925 | 0.120 | 9 | 35076030 | splice acceptor variant | T/C | snv | 1.6E-05 |
|
0.700 | 1.000 | 3 | 2000 | 2017 | ||||||||
|
0.925 | 0.120 | 9 | 35078338 | stop gained | C/A | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 1998 | 2000 | |||||||
|
0.925 | 0.120 | 9 | 35078338 | stop gained | C/A | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 1998 | 2000 | |||||||
|
1.000 | 0.120 | 9 | 35075740 | frameshift variant | G/-;GG | delins |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
1.000 | 0.120 | 9 | 35074489 | stop gained | G/A;C | snv | 2.0E-05 |
|
0.700 | 1.000 | 2 | 2000 | 2001 | ||||||||
|
1.000 | 0.120 | 9 | 35076970 | splice donor variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.925 | 0.120 | 9 | 35074173 | frameshift variant | ACGGATCCAG/- | delins | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
1.000 | 0.120 | 9 | 35077267 | frameshift variant | GGTAGGC/- | delins | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.120 | 9 | 35076871 | splice acceptor variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.120 | 9 | 35076030 | splice acceptor variant | T/C | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
1.000 | 0.120 | 9 | 35079169 | frameshift variant | -/C | delins | 1.3E-05 |
|
0.700 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
1.000 | 0.120 | 9 | 35077096 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 9 | 35076442 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 9 | 35075278 | splice donor variant | C/A;G | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 9 | 35078604 | splice donor variant | C/G;T | snv | 2.4E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 9 | 35078604 | splice donor variant | C/G;T | snv | 2.4E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 9 | 35075706 | frameshift variant | AAACACCTCA/- | delins | 6.0E-05 | 9.0E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 9 | 35074173 | frameshift variant | ACGGATCCAG/- | delins | 4.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 9 | 35076585 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 9 | 35076585 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 9 | 35074158 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 9 | 35074384 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 9 | 35079164 | frameshift variant | -/A | delins |
|
0.700 | 0 |