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 | 0.080 | X | 53234811 | frameshift variant | G/- | delins | 0.700 | 1.000 | 5 | 2010 | 2017 | |||||
|
1 | 1.000 | 0.080 | X | 53243331 | splice donor variant | C/T | snv | 0.700 | 1.000 | 3 | 2010 | 2016 | |||||
|
1 | 1.000 | 0.080 | X | 53247131 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2010 | 2015 | |||||
|
1 | 1.000 | 0.080 | X | 53248778 | missense variant | T/G | snv | 0.800 | 1.000 | 2 | 2010 | 2015 | |||||
|
1 | 1.000 | 0.080 | X | 53254856 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2010 | 2015 | |||||
|
1 | 1.000 | 0.080 | X | 53250303 | missense variant | C/T | snv | 0.800 | 1.000 | 2 | 2010 | 2015 | |||||
|
1 | 1.000 | 0.080 | X | 53248814 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2010 | 2015 | |||||
|
1 | 1.000 | 0.080 | X | 53236386 | stop gained | G/A;T | snv | 5.2E-05 | 1.9E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | X | 53248133 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | X | 53255995 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | X | 53243445 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53248219 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53234646 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53234247 | frameshift variant | -/GGCCT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53236495 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53250900 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53250926 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53250946 | frameshift variant | GCCGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53251018 | frameshift variant | TAGAGGGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53255936 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53320973 | frameshift variant | GCTGGCCCTCCAGCTCCTCGATGCGCCGCCGCTGGGTTTCCAGCAGCTGCTGCTGGCTCTCGATGATGTTGTTCAGCTCCAGCAGGTACTCCACGGC/AT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53234267 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53234869 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53248112 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 53250997 | stop gained | G/A | snv | 0.700 | 0 |