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 | 0.120 | 12 | 76346940 | frameshift variant | AA/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.120 | 12 | 76347023 | missense variant | T/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.120 | 12 | 76347424 | inframe deletion | GAT/- | delins | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 12 | 76347724 | frameshift variant | ATAAA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 12 | 76345955 | frameshift variant | C/- | delins | 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 12 | 76347338 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 12 | 76347298 | frameshift variant | A/- | del | 2.0E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 12 | 76347454 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 4 | 122743006 | frameshift variant | TT/- | delins |
|
0.700 | 1.000 | 4 | 2007 | 2019 | |||||||||
|
0.925 | 0.120 | 4 | 122743394 | missense variant | C/T | snv | 3.6E-05 | 2.0E-04 |
|
0.700 | 1.000 | 3 | 2010 | 2019 | |||||||
|
0.925 | 0.120 | 4 | 122743915 | stop gained | C/T | snv | 8.1E-06 | 7.0E-06 |
|
0.700 | 1.000 | 3 | 2010 | 2019 | |||||||
|
0.925 | 0.120 | 4 | 122743267 | stop gained | C/T | snv | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
0.925 | 0.120 | 4 | 122742900 | frameshift variant | GT/- | delins |
|
0.700 | 1.000 | 2 | 2007 | 2014 | |||||||||
|
0.776 | 0.240 | 4 | 122742955 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 4 | 122742561 | frameshift variant | -/A | delins | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 4 | 122741957 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 4 | 122742947 | missense variant | A/C;G | snv | 4.8E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 4 | 122741996 | stop gained | C/A | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 4 | 122742155 | frameshift variant | TT/- | delins | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 4 | 122743945 | frameshift variant | ACAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 4 | 122742574 | frameshift variant | -/T | ins | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 |
|
0.750 | 1.000 | 16 | 2002 | 2019 | |||||||
|
0.925 | 0.120 | 11 | 66531692 | stop gained | G/A;T | snv | 4.0E-06; 1.6E-05 |
|
0.700 | 1.000 | 7 | 2002 | 2012 | ||||||||
|
0.925 | 0.120 | 11 | 66526753 | stop gained | C/G;T | snv | 4.0E-06; 1.2E-05 |
|
0.700 | 1.000 | 5 | 2003 | 2011 | ||||||||
|
0.925 | 0.120 | 11 | 66523476 | frameshift variant | A/- | del |
|
0.700 | 1.000 | 3 | 2002 | 2015 |