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 | 0.160 | 22 | 23803395 | stop gained | C/T | snv | 0.700 | 1.000 | 6 | 1999 | 2015 | |||||
|
1 | 1.000 | 0.160 | 22 | 23793689 | splice donor variant | G/A | snv | 0.700 | 1.000 | 3 | 1999 | 2011 | |||||
|
33 | 0.732 | 0.480 | 22 | 23833670 | inframe deletion | AGA/- | delins | 0.700 | 1.000 | 3 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.160 | 22 | 23803294 | splice acceptor variant | G/C | snv | 0.700 | 1.000 | 2 | 1999 | 2011 | |||||
|
1 | 1.000 | 0.160 | 22 | 23793557 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 2 | 1999 | 2011 | |||||
|
1 | 1.000 | 0.160 | 22 | 23791780 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 22 | 23791814 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 22 | 23825398 | frameshift variant | GAAGACCT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 23791797 | stop gained | -/GATA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 23791846 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 22 | 23833655 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 23833704 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 23803383 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.240 | 22 | 23834262 | 3 prime UTR variant | C/T | snv | 0.700 | 0 |