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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 17 | 17216395 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 20 | 2002 | 2019 | |||||
|
2 | 1.000 | 0.080 | 17 | 17216506 | splice region variant | GGA/- | delins | 0.700 | 1.000 | 7 | 2000 | 2017 | |||||
|
6 | 0.827 | 0.240 | 17 | 17215188 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 6 | 2005 | 2017 | ||||
|
2 | 1.000 | 0.080 | 17 | 17215237 | frameshift variant | GA/- | delins | 0.700 | 1.000 | 5 | 2005 | 2016 | |||||
|
3 | 0.925 | 0.080 | 17 | 17215228 | stop gained | G/A;C;T | snv | 6.0E-05 | 0.700 | 1.000 | 4 | 2002 | 2013 | ||||
|
2 | 1.000 | 0.080 | 17 | 17215184 | splice donor variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2016 | ||||
|
1 | 17 | 17216465 | stop gained | G/C | snv | 0.700 | 1.000 | 2 | 2008 | 2017 | |||||||
|
2 | 1.000 | 0.080 | 17 | 17216428 | frameshift variant | G/- | delins | 0.700 | 1.000 | 2 | 2008 | 2014 | |||||
|
2 | 1.000 | 0.080 | 17 | 17215282 | frameshift variant | -/GCGGCTGCGTGGACCTC | delins | 0.700 | 1.000 | 2 | 2008 | 2011 | |||||
|
1 | 17 | 17215190 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||||
|
2 | 1.000 | 0.080 | 17 | 17217128 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 17 | 17215312 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 17 | 17213811 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 17215265 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 17215313 | splice acceptor variant | -/AC | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 17217142 | frameshift variant | -/GTGCC | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.080 | 17 | 17216466 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 17 | 17215254 | frameshift variant | CCCCACA/- | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 17216392 | frameshift variant | -/TG | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 17217068 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||||
|
1 | 17 | 17217092 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.080 | 17 | 17216501 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 17 | 17215092 | splice acceptor variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 17 | 17215064 | stop gained | C/A | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.080 | 17 | 17216379 | splice donor variant | C/T | snv | 0.700 | 0 |