| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 4 | 54727444 | missense variant | T/A;C;G | snv |
|
0.850 | 1.000 | 5 | 1998 | 2017 | |||||||||
|
0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv |
|
0.800 | 0.987 | 1 | 1998 | 2020 | |||||||||
|
1.000 | 0.120 | 4 | 54728121 | missense variant | G/A | snv |
|
0.800 | 1.000 | 0 | 1991 | 2000 | |||||||||
|
0.925 | 0.200 | 4 | 54727515 | missense variant | G/A | snv |
|
0.800 | 1.000 | 0 | 1991 | 2000 | |||||||||
|
1.000 | 0.120 | 4 | 54736552 | missense variant | A/C | snv |
|
0.800 | 1.000 | 0 | 1991 | 2000 | |||||||||
|
1.000 | 0.120 | 4 | 54727519 | missense variant | T/G | snv |
|
0.800 | 1.000 | 0 | 1991 | 2000 | |||||||||
|
1.000 | 0.120 | 4 | 54727520 | missense variant | T/G | snv |
|
0.800 | 0 | ||||||||||||
|
0.776 | 0.120 | 4 | 54727495 | missense variant | T/C | snv |
|
0.760 | 1.000 | 13 | 1995 | 2016 | |||||||||
|
0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv |
|
0.760 | 1.000 | 3 | 2001 | 2014 | |||||||||
|
1.000 | 0.080 | 4 | 54729353 | missense variant | C/T | snv | 4.0E-06 |
|
0.750 | 1.000 | 7 | 2004 | 2019 | ||||||||
|
0.763 | 0.240 | 4 | 54733174 | missense variant | T/A;G | snv |
|
0.750 | 1.000 | 1 | 2006 | 2013 | |||||||||
|
0.790 | 0.120 | 4 | 54727447 | missense variant | T/A;C;G | snv |
|
0.740 | 0.875 | 4 | 1999 | 2016 | |||||||||
|
1.000 | 0.040 | 4 | 54728092 | missense variant | T/A;C | snv |
|
0.730 | 0.900 | 9 | 2005 | 2019 | |||||||||
|
0.925 | 0.080 | 4 | 54727437 | missense variant | T/A;C;G | snv |
|
0.730 | 1.000 | 6 | 1999 | 2018 | |||||||||
|
0.776 | 0.120 | 4 | 54727495 | missense variant | T/C | snv |
|
0.730 | 1.000 | 1 | 2006 | 2017 | |||||||||
|
0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv |
|
0.710 | 1.000 | 9 | 1995 | 2013 | |||||||||
|
0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 4 | 2005 | 2014 | |||||||||
|
1.000 | 0.080 | 4 | 54727443 | missense variant | G/A | snv |
|
0.710 | 1.000 | 3 | 2007 | 2013 | |||||||||
|
0.851 | 0.120 | 4 | 54727444 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 18 | 1995 | 2014 | |||||||||
|
0.925 | 0.080 | 4 | 54727437 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 14 | 1995 | 2012 | |||||||||
|
0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 9 | 1995 | 2011 | |||||||||
|
0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 8 | 1995 | 2011 | |||||||||
|
4 | 54727501 | inframe deletion | GAT/- | delins |
|
0.700 | 1.000 | 5 | 1998 | 2015 | |||||||||||
|
0.882 | 0.080 | 4 | 54727443 | inframe deletion | TTGTTG/-;TTG | delins |
|
0.700 | 1.000 | 4 | 2004 | 2009 | |||||||||
|
0.882 | 0.080 | 4 | 54727425 | missense variant | T/A | snv |
|
0.700 | 1.000 | 3 | 2011 | 2013 |