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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 139359896 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2003 | 2018 | |||||||||||
|
1.000 | 4 | 139341049 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 4 | 139336933 | frameshift variant | CTTGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 4 | 139336933 | frameshift variant | CTTGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 4 | 139336933 | frameshift variant | CTTGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 4 | 139336933 | frameshift variant | CTTGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 4 | 139336933 | frameshift variant | CTTGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 4 | 139336933 | frameshift variant | CTTGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 4 | 139336933 | frameshift variant | CTTGA/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 4 | 139336870 | frameshift variant | A/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 4 | 139351510 | stop gained | A/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 4 | 139351603 | frameshift variant | GAAA/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 4 | 139361879 | stop gained | T/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 4 | 139378785 | stop gained | A/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 4 | 139336947 | frameshift variant | AT/- | del | 4.3E-06 | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv |
|
0.700 | 0 |