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 | 0.120 | 9 | 132903649 | splice donor variant | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 16 | 2088293 | inframe insertion | CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 2085238 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 9 | 132905874 | frameshift variant | TCCCGCA/GC | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 2055520 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 16 | 2087897 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 2054441 | splice donor variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 16 | 2062982 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 16 | 2086834 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 16 | 2081646 | stop gained | C/A;T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
1.000 | 0.120 | 16 | 2058765 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 2 | 2001 | 2001 | |||||||||
|
1.000 | 0.120 | 16 | 2079357 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 2 | 2001 | 2001 | |||||||||
|
0.925 | 0.120 | 16 | 2058779 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
1.000 | 0.120 | 16 | 2055518 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.807 | 0.320 | 2 | 61048535 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 1999 | 2005 | ||||||||
|
0.925 | 0.120 | 16 | 2076142 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.120 | 16 | 2070531 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.120 | 16 | 2088569 | missense variant | C/T | snv | 1.5E-03 | 1.5E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.120 | 9 | 132905820 | synonymous variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 16 | 2064342 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 16 | 2064302 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.120 | 16 | 2062533 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.120 | 16 | 2084552 | missense variant | C/G;T | snv | 4.2E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 16 | 2083754 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 16 | 2080365 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |