Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.160 | 18 | 23533354 | splice donor variant | C/A;G;T | snv | 0.700 | 1.000 | 3 | 1999 | 2016 | |||||
|
2 | 0.925 | 0.160 | 18 | 23533364 | frameshift variant | GAGT/- | delins | 3.2E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 1999 | 2010 | |||
|
1 | 1.000 | 0.160 | 18 | 23533374 | frameshift variant | AG/- | del | 0.700 | 1.000 | 5 | 1999 | 2014 | |||||
|
1 | 1.000 | 0.160 | 18 | 23533391 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1997 | 2016 | ||||
|
1 | 1.000 | 0.160 | 18 | 23533402 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 1.000 | 20 | 1997 | 2016 | ||||
|
1 | 1.000 | 0.160 | 18 | 23533437 | frameshift variant | GAATATC/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 18 | 23533447 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 18 | 23533470 | missense variant | C/G;T | snv | 8.0E-06 | 0.700 | 1.000 | 20 | 1997 | 2016 | ||||
|
1 | 1.000 | 0.160 | 18 | 23533472 | missense variant | A/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 20 | 1997 | 2016 | |||
|
1 | 1.000 | 0.160 | 18 | 23533475 | missense variant | C/A | snv | 1.6E-05 | 0.700 | 1.000 | 3 | 2005 | 2014 | ||||
|
2 | 0.925 | 0.160 | 18 | 23533495 | missense variant | G/C;T | snv | 8.0E-06 | 0.700 | 1.000 | 8 | 2000 | 2014 | ||||
|
1 | 1.000 | 0.160 | 18 | 23533495 | frameshift variant | AAGT/-;AAGTAAGT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 18 | 23533496 | frameshift variant | TA/C | delins | 0.700 | 1.000 | 2 | 2003 | 2012 | |||||
|
1 | 1.000 | 0.160 | 18 | 23533518 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 18 | 23534444 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 18 | 23534445 | splice donor variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 3 | 2001 | 2013 | |||
|
1 | 1.000 | 0.160 | 18 | 23534471 | missense variant | T/C | snv | 2.0E-05 | 7.0E-06 | 0.800 | 1.000 | 24 | 1997 | 2016 | |||
|
1 | 1.000 | 0.160 | 18 | 23534475 | frameshift variant | C/- | delins | 4.0E-06 | 0.700 | 1.000 | 2 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.160 | 18 | 23534480 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 0.700 | 1.000 | 5 | 2010 | 2014 | |||
|
1 | 1.000 | 0.160 | 18 | 23534499 | frameshift variant | TCAT/AAA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 18 | 23534516 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 18 | 23534519 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 18 | 23534534 | missense variant | C/T | snv | 0.800 | 1.000 | 23 | 1997 | 2016 | |||||
|
1 | 1.000 | 0.160 | 18 | 23534544 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 6 | 2001 | 2015 | ||||
|
1 | 1.000 | 0.160 | 18 | 23535479 | missense variant | T/A;C | snv | 2.0E-05 | 1.4E-05 | 0.800 | 1.000 | 24 | 1997 | 2016 |