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 | 0.925 | 0.080 | 1 | 209633070 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 2 | 1998 | 2007 | ||||
|
1 | 1.000 | 0.080 | 1 | 209633079 | missense variant | T/G | snv | 0.800 | 1.000 | 2 | 1998 | 2007 | |||||
|
1 | 1.000 | 0.080 | 1 | 209633102 | missense variant | C/G | snv | 0.700 | 1.000 | 2 | 1998 | 2007 | |||||
|
2 | 0.925 | 0.080 | 1 | 209627502 | frameshift variant | TG/- | del | 2.0E-05 | 3.5E-05 | 0.700 | 1.000 | 2 | 2000 | 2013 | |||
|
2 | 0.925 | 0.080 | 1 | 209618519 | frameshift variant | C/- | delins | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 2006 | 2015 | |||
|
3 | 0.882 | 0.080 | 1 | 209628034 | splice donor variant | C/A;T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 209650070 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 209633136 | splice region variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 209632777 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 1 | 209629852 | stop gained | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 209630654 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 209627425 | frameshift variant | ACACG/- | del | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 1 | 209650023 | stop gained | G/A | snv | 5.6E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
7 | 0.790 | 0.120 | 1 | 209625721 | stop gained | G/A | snv | 5.1E-04 | 4.8E-04 | 0.700 | 0 |