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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 14 | 50302132 | missense variant | T/A;C | snv | 0.800 | 1.000 | 3 | 2004 | 2005 | |||||
|
1 | 1.000 | 0.120 | 14 | 50269164 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.800 | 0 | ||||||
|
1 | 1.000 | 0.120 | 14 | 50302994 | missense variant | C/T | snv | 0.800 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 14 | 50302917 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 14 | 50302950 | stop gained | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2005 | 2005 | |||
|
5 | 1.000 | 0.120 | 14 | 50302901 | splice donor variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 14 | 50267802 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 50302989 | missense variant | C/T | snv | 1.6E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 14 | 50267814 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 14 | 50247149 | missense variant | T/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 14 | 50294125 | frameshift variant | G/- | delins | 3.6E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 14 | 50265439 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 50269162 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 50294190 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 14 | 50283990 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.240 | 14 | 73192647 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 |