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 | 19 | 11102783 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 2 | 21003241 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 21004451 | splice acceptor variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 21005156 | frameshift variant | G/- | del | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 2 | 21006235 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 21007668 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 21009304 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 2 | 21010615 | stop gained | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 2 | 21011301 | frameshift variant | CA/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 21011405 | frameshift variant | C/- | del | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 21011602 | frameshift variant | TTGT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 21011630 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 21012439 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 21012516 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 21013287 | stop gained | G/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 21013379 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 21015144 | stop gained | TAGCATACATAT/CCTAAG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 21022861 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 2 | 21029900 | missense variant | G/A;T | snv | 8.0E-06; 2.0E-05 | 0.040 | 1.000 | 4 | 2003 | 2009 | ||||
|
1 | 1.000 | 0.040 | 2 | 21033517 | splice acceptor variant | -/CC | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 55043945 | missense variant | C/A;T | snv | 3.2E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 1 | 55043976 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
9 | 0.776 | 0.160 | 1 | 55058630 | missense variant | C/T | snv | 4.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.080 | 1 | 62604068 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |