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 | 1.000 | 0.120 | 3 | 10142009 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 4 | 1995 | 2016 | |||||
|
1 | 3 | 10142026 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
4 | 0.882 | 0.200 | 3 | 10142038 | missense variant | G/A;C | snv | 0.700 | 1.000 | 7 | 1998 | 2014 | |||||
|
2 | 1.000 | 0.120 | 3 | 10142039 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 3 | 10142055 | stop gained | G/A;T | snv | 4.4E-06 | 0.700 | 1.000 | 12 | 1995 | 2016 | ||||
|
2 | 1.000 | 0.120 | 3 | 10142061 | missense variant | T/C | snv | 0.700 | 1.000 | 11 | 2002 | 2015 | |||||
|
1 | 3 | 10142066 | frameshift variant | GG/- | del | 0.700 | 0 | ||||||||||
|
4 | 0.882 | 0.240 | 3 | 10142079 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2013 | 2016 | |||||
|
3 | 0.925 | 0.160 | 3 | 10142080 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.120 | 3 | 10142085 | missense variant | A/C;G | snv | 0.700 | 1.000 | 6 | 1997 | 2014 | |||||
|
2 | 1.000 | 0.120 | 3 | 10142089 | missense variant | C/A;T | snv | 4.3E-06; 4.3E-06 | 0.700 | 1.000 | 3 | 2006 | 2012 | ||||
|
4 | 0.882 | 0.200 | 3 | 10142097 | missense variant | G/A;C;T | snv | 4.4E-06 | 0.700 | 1.000 | 7 | 1995 | 2016 | ||||
|
2 | 1.000 | 0.120 | 3 | 10142103 | missense variant | C/G;T | snv | 0.700 | 1.000 | 19 | 1994 | 2016 | |||||
|
3 | 0.925 | 0.160 | 3 | 10142104 | missense variant | C/G;T | snv | 0.700 | 1.000 | 6 | 1995 | 2016 | |||||
|
1 | 3 | 10142109 | protein altering variant | -/GGC | delins | 0.700 | 1.000 | 2 | 2002 | 2012 | |||||||
|
3 | 0.925 | 0.160 | 3 | 10142110 | stop gained | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.160 | 3 | 10142111 | missense variant | G/C;T | snv | 0.700 | 1.000 | 2 | 1999 | 2005 | |||||
|
5 | 0.851 | 0.320 | 3 | 10142113 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 3 | 10142124 | frameshift variant | G/- | delins | 0.700 | 1.000 | 3 | 1994 | 1998 | |||||
|
2 | 1.000 | 0.120 | 3 | 10142127 | stop gained | G/A;T | snv | 4.5E-06 | 0.700 | 0 | |||||||
|
1 | 3 | 10142133 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
10 | 0.776 | 0.320 | 3 | 10142139 | missense variant | T/C | snv | 1.3E-05 | 0.700 | 1.000 | 6 | 2003 | 2014 | ||||
|
2 | 1.000 | 0.120 | 3 | 10142167 | missense variant | G/A;C | snv | 0.700 | 1.000 | 5 | 1998 | 2012 | |||||
|
2 | 1.000 | 0.120 | 3 | 10142179 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 3 | 10142180 | missense variant | C/G;T | snv | 4.5E-06 | 0.700 | 1.000 | 8 | 1995 | 2015 |