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 | 0.120 | 5 | 149978050 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 5 | 149980750 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 5 | 149980834 | frameshift variant | AAAC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 149981044 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 5 | 149981576 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 149981713 | frameshift variant | TT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 149977906 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 149977983 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 149977699 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 5 | 149978148 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 149980296 | frameshift variant | GATGGGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 149980496 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 149981128 | missense variant | C/A | snv | 4.8E-05 | 7.0E-06 | 0.710 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.120 | 5 | 149980954 | missense variant | A/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 5 | 149980292 | splice acceptor variant | G/C | snv | 4.9E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 5 | 149977707 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 5 | 149980866 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 1997 | 1997 | |||||
|
3 | 0.882 | 0.120 | 5 | 149981626 | missense variant | G/T | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.120 | 5 | 149981737 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 | 0.700 | 1.000 | 5 | 1996 | 2012 | |||
|
4 | 0.851 | 0.120 | 5 | 149981243 | frameshift variant | G/- | del | 8.0E-06 | 2.8E-05 | 0.700 | 1.000 | 5 | 2001 | 2010 | |||
|
4 | 0.851 | 0.120 | 5 | 149978353 | splice donor variant | T/C | snv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
4 | 0.851 | 0.120 | 5 | 149981586 | frameshift variant | AC/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.120 | 5 | 149980984 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
4 | 0.851 | 0.120 | 5 | 149981565 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
4 | 0.851 | 0.200 | 19 | 18787632 | missense variant | G/A;T | snv | 8.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 |