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 | 0.080 | 1 | 156137138 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156136240 | stop gained | C/A;T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 156135313 | splice donor variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156136027 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.120 | 1 | 156134976 | splice donor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 1 | 12011510 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 1 | 156136074 | frameshift variant | -/TGGA | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.240 | 1 | 156115102 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 156115052 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 156115184 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156115076 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156130641 | frameshift variant | GAT/TGGTCACCTGAGAG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156135262 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 11992690 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 12011547 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 11998999 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156135304 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156136216 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 11998873 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.080 | 1 | 161307361 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 1998 | 1998 | |||||
|
7 | 0.790 | 0.280 | 1 | 156130658 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2001 | 2005 | ||||
|
1 | 1.000 | 0.080 | 1 | 11998808 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.882 | 0.080 | 1 | 12001423 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2004 | 2006 | ||||
|
3 | 0.882 | 0.120 | 1 | 156135280 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.851 | 0.120 | 1 | 156135268 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 | 0.700 | 1.000 | 3 | 2004 | 2008 |