| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.240 | 17 | 43094464 | frameshift variant | T/- | del |
|
0.020 | 0.500 | 2 | 2002 | 2008 | |||||||||
|
0.851 | 0.200 | 17 | 43091614 | frameshift variant | AA/- | del |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 17 | 43094550 | frameshift variant | GT/- | delins |
|
0.020 | 1.000 | 2 | 2010 | 2015 | |||||||||
|
0.807 | 0.280 | 17 | 43092919 | frameshift variant | G/AA | delins |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.080 | 17 | 43092674 | frameshift variant | AA/- | delins |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.080 | 17 | 43071164 | frameshift variant | CT/- | delins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.200 | 17 | 43106497 | frameshift variant | C/-;CC | delins |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||||
|
0.790 | 0.200 | 17 | 43115759 | frameshift variant | G/- | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 17 | 43091982 | frameshift variant | TT/- | delins |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.200 | 17 | 43106457 | frameshift variant | T/-;TT | delins |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.807 | 0.160 | 17 | 43115755 | frameshift variant | ACAGG/- | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.080 | 17 | 43093956 | frameshift variant | A/-;AA | delins |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.882 | 0.080 | 17 | 43095890 | frameshift variant | G/- | delins |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||||
|
0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.770 | 1.000 | 7 | 2005 | 2019 | ||||||||
|
0.708 | 0.320 | 17 | 43092919 | missense variant | G/A;C;T | snv | 0.40; 1.6E-05 |
|
0.060 | 0.667 | 6 | 2009 | 2019 | ||||||||
|
0.807 | 0.160 | 17 | 43104122 | missense variant | C/A;G | snv | 1.2E-05 |
|
0.040 | 0.750 | 4 | 2003 | 2013 | ||||||||
|
0.752 | 0.240 | 17 | 43094464 | missense variant | T/C | snv | 4.7E-02 | 4.6E-02 |
|
0.030 | 0.667 | 3 | 2002 | 2018 | |||||||
|
0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 |
|
0.030 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
0.882 | 0.080 | 17 | 43091983 | missense variant | T/A;C | snv | 0.35 | 0.31 |
|
0.020 | 1.000 | 2 | 2011 | 2011 | |||||||
|
0.807 | 0.280 | 17 | 43071077 | missense variant | T/A;C | snv | 5.2E-05; 0.35 |
|
0.020 | 0.500 | 2 | 2014 | 2019 | ||||||||
|
0.882 | 0.080 | 17 | 43082496 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 0.500 | 2 | 2004 | 2010 | |||||||
|
0.925 | 0.080 | 17 | 43093169 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2003 | 2007 | |||||||
|
0.882 | 0.080 | 17 | 43063940 | missense variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2003 | 2006 |