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 | 47403202 | frameshift variant | AG/C | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.160 | 2 | 47403219 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2005 | 2010 | |||||
|
3 | 1.000 | 0.160 | 2 | 47403223 | frameshift variant | -/G | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 2 | 47403276 | stop gained | A/T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 47403278 | frameshift variant | GCCG/- | del | 0.700 | 0 | ||||||||||
|
1 | 2 | 47403305 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.160 | 2 | 47403307 | frameshift variant | G/- | delins | 0.700 | 1.000 | 4 | 2001 | 2015 | |||||
|
1 | 2 | 47403332 | frameshift variant | CGAGGACGCGCTGC/- | del | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.160 | 2 | 47403333 | stop gained | G/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 2 | 47403343 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.160 | 2 | 47403372 | stop gained | C/G;T | snv | 4.3E-06; 4.3E-06 | 0.700 | 1.000 | 2 | 2003 | 2011 | ||||
|
2 | 2 | 47403373 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||||
|
2 | 2 | 47403382 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47403384 | frameshift variant | -/TC | ins | 0.700 | 0 | ||||||||||
|
1 | 2 | 47403392 | splice donor variant | GGCAGGTGAGGGCCGGGACGGCGCGTGCTGGGGAGGGACCCGGGGCC/- | delins | 0.700 | 1.000 | 2 | 2005 | 2014 | |||||||
|
1 | 2 | 47403396 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.160 | 2 | 47403402 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.160 | 2 | 47403403 | splice donor variant | G/T | snv | 0.700 | 1.000 | 3 | 2005 | 2014 | |||||
|
1 | 2 | 47403404 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.160 | 2 | 47408400 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 2 | 2005 | 2014 | |||||
|
1 | 2 | 47408406 | stop gained | A/G;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.240 | 2 | 47408415 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2005 | 2010 | ||||
|
3 | 1.000 | 0.160 | 2 | 47408416 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 5 | 1997 | 2015 | |||||
|
4 | 0.925 | 0.160 | 2 | 47408478 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 2 | 47408481 | stop gained | TA/- | delins | 0.700 | 1.000 | 1 | 2011 | 2011 |