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 | 5 | 132640768 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 4 | 2000 | 2015 | ||||||
|
1 | 5 | 132642212 | stop gained | C/T | snv | 0.700 | 1.000 | 4 | 2007 | 2014 | |||||||
|
1 | 5 | 132642195 | stop gained | C/A | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2000 | 2015 | ||||||
|
1 | 5 | 132638080 | splice acceptor variant | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2009 | ||||||
|
1 | 5 | 132637202 | splice donor variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2009 | ||||||
|
1 | 5 | 132642204 | frameshift variant | G/- | del | 0.700 | 1.000 | 2 | 2010 | 2014 | |||||||
|
1 | 5 | 132638215 | splice donor variant | ACAAAAGGCAGG/- | delins | 0.700 | 1.000 | 2 | 2006 | 2009 | |||||||
|
1 | 5 | 132638158 | stop gained | C/T | snv | 2.4E-05 | 3.5E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 5 | 132638128 | frameshift variant | TTCTGATAAAAGGC/- | delins | 7.0E-06 | 0.700 | 0 | |||||||||
|
1 | 5 | 132637162 | frameshift variant | -/TA | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 132638081 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||||
|
1 | 5 | 132638087 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 132640691 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 132640757 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 132642177 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 5 | 132642203 | stop gained | -/GTAACTTCCAGCT | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 132638224 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 5 | 132638069 | splice acceptor variant | CCTGTGTCAGATATT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 5 | 132637179 | stop gained | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||||
|
1 | 5 | 132638203 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 5 | 132638197 | stop gained | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 5 | 132638094 | frameshift variant | AGAAATA/- | del | 0.700 | 0 |