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 | 9 | 69065013 | missense variant | A/G;T | snv | 4.0E-06 |
|
0.810 | 1.000 | 7 | 1997 | 2009 | ||||||||
|
0.925 | 0.120 | 9 | 69053193 | stop gained | T/C;G | snv | 1.2E-05 |
|
0.800 | 1.000 | 6 | 1997 | 2009 | ||||||||
|
0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 |
|
0.800 | 1.000 | 6 | 1997 | 2009 | ||||||||
|
1.000 | 0.120 | 9 | 69064991 | missense variant | C/G | snv |
|
0.720 | 1.000 | 2 | 2004 | 2014 | |||||||||
|
0.925 | 0.120 | 9 | 69072622 | missense variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.925 | 0.120 | 9 | 69065016 | missense variant | T/C | snv |
|
0.710 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.120 | 9 | 69072673 | missense variant | C/T | snv |
|
0.700 | 1.000 | 6 | 1997 | 2009 | |||||||||
|
1.000 | 0.120 | 9 | 69072722 | missense variant | T/G | snv |
|
0.700 | 1.000 | 6 | 1997 | 2009 | |||||||||
|
9 | 69084300 | intron variant | C/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 9 | 69071560 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.120 | 9 | 69035785 | start lost | G/A;T | snv | 9.1E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 9 | 69064936 | splice acceptor variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 9 | 69035936 | frameshift variant | C/-;CC | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 9 | 69053240 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 9 | 69072646 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 9 | 69053247 | protein altering variant | ATGTCT/TACACCTTGAGGACA | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 |
|
0.030 | 1.000 | 3 | 1999 | 2010 | ||||||||
|
0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 |
|
0.020 | 1.000 | 2 | 2002 | 2010 | ||||||||
|
0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 |
|
0.020 | 1.000 | 2 | 2002 | 2008 | ||||||||
|
0.925 | 0.120 | 9 | 69053193 | stop gained | T/C;G | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 9 | 69065013 | missense variant | A/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.120 | 9 | 69053191 | frameshift variant | TT/-;T | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 9 | 69072622 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 |