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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.120 | 1 | 45333513 | stop gained | G/A;C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 1 | 45332636 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 1 | 45332049 | stop gained | G/A;T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.120 | 1 | 45334493 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 1 | 45334457 | frameshift variant | C/- | del | 2.0E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 1 | 45332916 | splice donor variant | A/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 1 | 45333561 | splice acceptor variant | C/- | delins | 1.6E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 1 | 45331503 | stop gained | G/A | snv | 6.0E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 1 | 45334463 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 1 | 45331316 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 1 | 45332300 | stop gained | G/A | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 1 | 45333315 | frameshift variant | C/- | del | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 45333172 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 1 | 45331519 | frameshift variant | TCACGGACGGG/- | delins | 2.1E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 1 | 45331184 | stop gained | T/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 1 | 45332959 | stop gained | T/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 45333427 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 1 | 45333453 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 1.000 | 0.120 | 1 | 45332678 | stop gained | C/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 1.000 | 0.120 | 1 | 45332240 | frameshift variant | C/- | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 0.120 | 1 | 45331302 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.925 | 0.120 | 1 | 45331223 | stop gained | C/A;T | snv | 4.0E-06; 3.6E-05 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 1 | 45332466 | missense variant | T/C;G | snv | 0.800 | 1.000 | 3 | 2008 | 2009 | |||||
|
3 | 0.925 | 0.120 | 1 | 45332440 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2005 | 2009 | ||||
|
2 | 1.000 | 0.120 | 1 | 45332574 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 |