Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 17 | 17216395 | frameshift variant | G/-;GG | delins |
|
0.700 | 1.000 | 20 | 2002 | 2019 | |||||||||
|
1.000 | 0.080 | 17 | 17216506 | splice region variant | GGA/- | delins |
|
0.700 | 1.000 | 7 | 2000 | 2017 | |||||||||
|
0.925 | 0.080 | 17 | 17224069 | inframe deletion | AAG/- | delins | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 7 | 2008 | 2016 | |||||||
|
0.925 | 0.080 | 17 | 17216395 | frameshift variant | G/-;GG | delins |
|
0.700 | 1.000 | 7 | 2002 | 2015 | |||||||||
|
1.000 | 0.080 | 17 | 17215237 | frameshift variant | GA/- | delins |
|
0.700 | 1.000 | 6 | 2005 | 2017 | |||||||||
|
1.000 | 0.080 | 17 | 17214990 | stop gained | C/T | snv |
|
0.700 | 1.000 | 6 | 2005 | 2015 | |||||||||
|
1.000 | 0.080 | 17 | 17216506 | splice region variant | GGA/- | delins |
|
0.700 | 1.000 | 6 | 2010 | 2017 | |||||||||
|
1.000 | 0.080 | 17 | 17226224 | frameshift variant | -/T | delins | 4.0E-06 |
|
0.700 | 1.000 | 6 | 2008 | 2013 | ||||||||
|
0.925 | 0.080 | 17 | 17224069 | inframe deletion | AAG/- | delins | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 6 | 2008 | 2017 | |||||||
|
0.827 | 0.240 | 17 | 17215188 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 6 | 2005 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 17215237 | frameshift variant | GA/- | delins |
|
0.700 | 1.000 | 5 | 2005 | 2016 | |||||||||
|
1.000 | 0.080 | 17 | 17213798 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 5 | 2006 | 2012 | |||||||||
|
1.000 | 0.080 | 17 | 17219188 | frameshift variant | TTCT/- | delins | 8.0E-06 |
|
0.700 | 1.000 | 5 | 2008 | 2016 | ||||||||
|
0.925 | 0.120 | 17 | 17224041 | stop gained | G/A | snv |
|
0.700 | 1.000 | 5 | 2013 | 2016 | |||||||||
|
0.925 | 0.120 | 17 | 17224041 | stop gained | G/A | snv |
|
0.700 | 1.000 | 5 | 2013 | 2018 | |||||||||
|
0.827 | 0.240 | 17 | 17215188 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 5 | 2005 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 17215032 | frameshift variant | -/ACAG | delins |
|
0.700 | 1.000 | 5 | 2005 | 2015 | |||||||||
|
1.000 | 0.080 | 17 | 17213816 | stop gained | G/A | snv | 1.4E-05 |
|
0.700 | 1.000 | 5 | 2005 | 2015 | ||||||||
|
0.925 | 0.080 | 17 | 17215228 | stop gained | G/A;C;T | snv | 6.0E-05 |
|
0.700 | 1.000 | 4 | 2002 | 2013 | ||||||||
|
1.000 | 0.080 | 17 | 17219188 | frameshift variant | TTCT/- | delins | 8.0E-06 |
|
0.700 | 1.000 | 4 | 2008 | 2016 | ||||||||
|
0.827 | 0.240 | 17 | 17222500 | splice donor variant | C/A;G | snv | 1.6E-05 |
|
0.700 | 1.000 | 4 | 2005 | 2012 | ||||||||
|
1.000 | 0.080 | 17 | 17223956 | frameshift variant | C/- | delins | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2005 | 2012 | ||||||||
|
17 | 17219018 | splice donor variant | C/T | snv |
|
0.700 | 1.000 | 3 | 2005 | 2018 | |||||||||||
|
0.925 | 0.120 | 17 | 17228135 | frameshift variant | C/- | del |
|
0.700 | 1.000 | 3 | 2006 | 2016 | |||||||||
|
0.925 | 0.080 | 17 | 17215228 | stop gained | G/A;C;T | snv | 6.0E-05 |
|
0.700 | 1.000 | 3 | 2002 | 2008 |