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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 14 | 54902341 | missense variant | C/T | snv | 0.800 | 1.000 | 5 | 1995 | 2008 | |||||
|
3 | 0.882 | 0.120 | 14 | 54844099 | missense variant | T/C;G | snv | 3.9E-04 | 0.700 | 1.000 | 2 | 1995 | 1998 | ||||
|
2 | 0.925 | 0.120 | 14 | 54845787 | missense variant | C/T | snv | 0.700 | 1.000 | 8 | 1996 | 2013 | |||||
|
2 | 0.925 | 0.120 | 14 | 54845843 | missense variant | C/T | snv | 0.800 | 1.000 | 3 | 1995 | 2017 | |||||
|
2 | 0.925 | 0.120 | 14 | 54845780 | missense variant | A/C;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 1999 | 2011 | ||||
|
2 | 0.925 | 0.120 | 14 | 54845767 | splice donor variant | C/A;T | snv | 0.700 | 1.000 | 3 | 1998 | 2009 | |||||
|
2 | 0.925 | 0.120 | 14 | 54844108 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 1995 | 1998 | |||
|
2 | 0.925 | 0.120 | 14 | 54844137 | missense variant | C/T | snv | 0.800 | 1.000 | 2 | 1995 | 1998 | |||||
|
2 | 0.925 | 0.120 | 14 | 54865437 | splice acceptor variant | C/G;T | snv | 0.700 | 1.000 | 2 | 1996 | 2009 | |||||
|
2 | 0.925 | 0.120 | 14 | 54902383 | missense variant | G/T | snv | 0.700 | 1.000 | 2 | 1999 | 2005 | |||||
|
2 | 0.925 | 0.120 | 14 | 54902467 | frameshift variant | AGCTCGTTATCC/T | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 14 | 54902441 | frameshift variant | AGGC/- | del | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.120 | 14 | 54844138 | missense variant | A/G | snv | 0.700 | 0 |