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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 156134943 | inframe deletion | AAG/- | delins |
|
0.700 | 1.000 | 3 | 2000 | 2001 | |||||||||||
|
1 | 156137653 | splice acceptor variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2008 | 2016 | |||||||||||
|
1 | 156134964 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2003 | 2008 | |||||||||||
|
1 | 156135922 | frameshift variant | C/- | del |
|
0.700 | 1.000 | 2 | 2000 | 2012 | |||||||||||
|
1 | 156136049 | frameshift variant | T/- | delins |
|
0.700 | 1.000 | 2 | 2006 | 2011 | |||||||||||
|
1 | 156135973 | synonymous variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||||
|
1 | 156138701 | missense variant | G/A;T | snv | 1.4E-04; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 156137144 | frameshift variant | -/C | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1 | 156134821 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 156130735 | stop gained | G/A;C;T | snv | 4.2E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 156136335 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1 | 156114996 | synonymous variant | C/T | snv | 2.2E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1 | 156136245 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1 | 156139089 | missense variant | A/G | snv | 1.2E-04 | 1.0E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1 | 156130774 | splice donor variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1 | 156134949 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2000 | 2000 | |||||||||||
|
1 | 156118735 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 156135231 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
1 | 156091431 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 156115240 | missense variant | A/G | snv | 2.5E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1 | 156115240 | missense variant | A/G | snv | 2.5E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1 | 156134933 | synonymous variant | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 156130624 | inframe deletion | AAG/- | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1 | 156136352 | frameshift variant | GCACGCAC/-;GCACGCACGCAC | delins |
|
0.700 | 0 | ||||||||||||||
|
1 | 156136352 | frameshift variant | GCACGCAC/-;GCACGCACGCAC | delins |
|
0.700 | 0 |