| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 94115838 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||||
|
10 | 87960962 | frameshift variant | A/- | del |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
16 | 50777915 | stop gained | C/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.882 | 0.080 | 13 | 32319111 | frameshift variant | -/C | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.160 | 17 | 43115755 | frameshift variant | ACAGG/- | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 1995 | 1995 | |||||||||
|
1.000 | 0.080 | 12 | 112489096 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
11 | 64809818 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||||
|
0.882 | 0.200 | 17 | 17222517 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 2 | 47475148 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv |
|
0.040 | 1.000 | 4 | 2008 | 2019 | |||||||||
|
0.925 | 0.200 | 17 | 7675074 | stop gained | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
17 | 68527856 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.966 | 29 | 2003 | 2018 | |||||||||
|
1.000 | 0.080 | 10 | 87952168 | frameshift variant | -/T | delins |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
2 | 47412558 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||||
|
0.882 | 0.200 | 16 | 89803299 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.120 | 5 | 112835073 | stop gained | CC/AT | mnv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 5 | 112815549 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
5 | 112838608 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
5 | 112840683 | missense variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
5 | 112835080 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1.000 | 17 | 43094296 | frameshift variant | ACAT/TG | delins |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||||
|
0.925 | 0.160 | 7 | 5987567 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
2 | 47403310 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 |