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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.200 | 17 | 74922931 | missense variant | A/G | snv |
|
0.800 | 1.000 | 4 | 2003 | 2011 | |||||||||
|
0.925 | 0.200 | 17 | 74919463 | missense variant | T/A | snv | 4.1E-06 | 1.4E-05 |
|
0.700 | 1.000 | 3 | 2003 | 2010 | |||||||
|
0.925 | 0.200 | 17 | 74919985 | frameshift variant | ACGCTGTCCTCGTCCGAGAG/- | delins |
|
0.700 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.925 | 0.200 | 17 | 74920441 | frameshift variant | -/C | delins | 2.0E-05 |
|
0.700 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
1.000 | 0.200 | 17 | 74923028 | missense variant | G/C | snv | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.200 | 17 | 74922961 | stop gained | C/T | snv | 6.1E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.200 | 17 | 74919776 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.200 | 17 | 74919776 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
17 | 74919981 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||||
|
17 | 74920024 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||||
|
17 | 74920522 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
0.882 | 0.200 | 17 | 74920325 | stop gained | C/A;T | snv | 4.1E-06; 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 74920325 | stop gained | C/A;T | snv | 4.1E-06; 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 74920325 | stop gained | C/A;T | snv | 4.1E-06; 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 74920325 | stop gained | C/A;T | snv | 4.1E-06; 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 17 | 74919985 | frameshift variant | ACGCTGTCCTCGTCCGAGAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 17 | 74920441 | frameshift variant | -/C | delins | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.200 | 17 | 74920649 | frameshift variant | GT/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.200 | 17 | 74919525 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 17 | 74923048 | missense variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||||
|
0.851 | 0.160 | 17 | 74923048 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.851 | 0.160 | 17 | 74923048 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.851 | 0.160 | 17 | 74923048 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.200 | 17 | 74919463 | missense variant | T/A | snv | 4.1E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 |