| 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 | 8 | 54626489 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.080 | 8 | 54625938 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 8 | 54626050 | frameshift variant | GATACTTTGTGAGG/- | delins | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 0.925 | 0.080 | 8 | 54627719 | frameshift variant | T/-;TT | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 8 | 54622180 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 8 | 54626162 | frameshift variant | TAAAT/- | delins | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
1 | 1.000 | 0.080 | 8 | 54625964 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 54626087 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 54626101 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 54626200 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 54626477 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 54626538 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 54629765 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 54622111 | splice region variant | T/C | snv | 5.0E-03 | 4.5E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 8 | 54625068 | stop gained | C/T | snv | 4.0E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 8 | 54622150 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 54628758 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 54625507 | stop gained | C/G | snv | 4.4E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 8 | 54625914 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 8 | 54625911 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.080 | 8 | 54626497 | missense variant | G/A | snv | 0.28 | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 |