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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 5 | 177267719 | splice donor variant | G/C | snv | 0.700 | 1.000 | 4 | 2003 | 2005 | |||||
|
2 | 0.925 | 0.040 | 5 | 177292149 | stop gained | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2005 | 2016 | ||||
|
2 | 0.925 | 0.040 | 5 | 177269601 | splice acceptor variant | G/C | snv | 0.700 | 1.000 | 4 | 2003 | 2005 | |||||
|
1 | 1.000 | 0.040 | 5 | 177280835 | splice donor variant | G/A;T | snv | 0.700 | 1.000 | 4 | 2003 | 2005 | |||||
|
1 | 1.000 | 0.040 | 5 | 177292119 | missense variant | T/G | snv | 0.700 | 1.000 | 3 | 2005 | 2017 | |||||
|
2 | 0.925 | 0.040 | 5 | 177269729 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2003 | 2012 | |||||
|
2 | 0.925 | 0.040 | 5 | 177283790 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2003 | 2017 | |||||
|
2 | 0.925 | 0.040 | 5 | 177283791 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2003 | 2015 | |||||
|
1 | 1.000 | 0.040 | 5 | 177292010 | frameshift variant | A/- | delins | 0.700 | 1.000 | 2 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.040 | 11 | 2885456 | start lost | T/G | snv | 0.700 | 1.000 | 2 | 1999 | 2015 | |||||
|
1 | 1.000 | 0.040 | 11 | 2885332 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 1999 | 2015 | |||||
|
1 | 1.000 | 0.040 | 11 | 2885281 | missense variant | G/A;T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 1999 | 2015 | ||||
|
1 | 1.000 | 0.040 | 11 | 2885018 | missense variant | G/C | snv | 0.700 | 1.000 | 2 | 1999 | 2015 | |||||
|
2 | 0.925 | 0.040 | 5 | 177211466 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2005 | 2012 | |||||
|
2 | 0.925 | 0.040 | 5 | 177246716 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2003 | 2017 | |||||
|
2 | 0.925 | 0.040 | 5 | 177283826 | missense variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2003 | 2014 | |||||
|
2 | 0.925 | 0.040 | 5 | 177292051 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2005 | 2012 | |||||
|
1 | 1.000 | 0.040 | 11 | 2884750 | stop gained | G/A;T | snv | 0.700 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 1.000 | 0.040 | 5 | 177210732 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.040 | 5 | 177210761 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 177211015 | frameshift variant | TGAGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 177135982 | frameshift variant | GA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 177292121 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 177293855 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 177210051 | frameshift variant | T/- | delins | 0.700 | 0 |