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 | 2 | 47416395 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 47416361 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||||
|
3 | 2 | 47412558 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||||
|
2 | 1.000 | 0.160 | 2 | 47408529 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 2 | 47476509 | frameshift variant | GTCA/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47463048 | frameshift variant | CCTTGTA/- | del | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.160 | 2 | 47410374 | splice donor variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2005 | 2014 | |||||
|
2 | 2 | 47445614 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.160 | 2 | 47445655 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 2 | 47470953 | splice acceptor variant | TTCGATTTGCAGCAAATTGACTTCTTTA/- | del | 0.700 | 0 | ||||||||||
|
2 | 2 | 47416375 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47414295 | frameshift variant | AAT/TG | delins | 0.700 | 0 | ||||||||||
|
2 | 2 | 47412516 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.080 | 2 | 47475228 | frameshift variant | GT/- | del | 0.700 | 0 | ||||||||
|
2 | 2 | 47414268 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 4 | 2005 | 2016 | |||||||
|
2 | 2 | 47478361 | stop gained | C/G | snv | 0.700 | 0 | ||||||||||
|
2 | 2 | 47478358 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 2 | 47478295 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47403332 | frameshift variant | CGAGGACGCGCTGC/- | del | 0.700 | 0 | ||||||||||
|
1 | 2 | 47414411 | frameshift variant | T/-;TT | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.160 | 2 | 47410218 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 1991 | 2013 | |||||
|
2 | 2 | 47414306 | stop gained | T/A;G | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 47408539 | stop gained | G/A;C;T | snv | 0.700 | 0 | ||||||||||
|
2 | 2 | 47445622 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2003 | 2012 | |||||||
|
1 | 2 | 47408406 | stop gained | A/G;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 |