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 | 2 | 178702186 | frameshift variant | CTGCCGTGCT/- | delins | 0.700 | 1.000 | 5 | 2002 | 2012 | |||||||
|
1 | 2 | 178621517 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2012 | 2015 | ||||||
|
1 | 2 | 178559769 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 2 | 178618768 | stop gained | G/A;T | snv | 4.1E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 178581650 | stop gained | G/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 178552313 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1 | 2 | 178552121 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 2 | 178547178 | frameshift variant | TCTT/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 2 | 178557838 | frameshift variant | G/- | del | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 2 | 178564253 | frameshift variant | AA/- | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 2 | 178718815 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 2 | 178568710 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 2 | 178770484 | frameshift variant | CA/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 2 | 178538945 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 178740175 | frameshift variant | G/- | delins | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 2 | 178528524 | splice donor variant | ACTGGCAGGTTGTTTTTAAACCATTCGATT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178564611 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178570689 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178572745 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178609440 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||||
|
1 | 2 | 178633304 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178621183 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 178578078 | stop gained | C/A;T | snv | 3.3E-04 | 0.700 | 0 | |||||||||
|
1 | 2 | 178689897 | splice acceptor variant | C/T | snv | 3.4E-04 | 4.7E-04 | 0.700 | 0 | ||||||||
|
2 | 2 | 178620285 | stop gained | G/A;T | snv | 4.9E-06 | 0.700 | 0 |