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 | 75761289 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 75728472 | stop gained | -/GATTTAG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75732879 | frameshift variant | -/T | delins | 0.700 | 1.000 | 7 | 2001 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 75750524 | frameshift variant | -/T | delins | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 75761364 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75761173 | stop gained | -/TAGAATGAGTTAC | delins | 3.2E-05 | 2.8E-05 | 0.700 | 1.000 | 2 | 1984 | 1991 | |||
|
1 | 1.000 | 0.080 | 1 | 75761187 | stop gained | -/TAGAATGAGTTAC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75761247 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75761366 | missense variant | A/C | snv | 0.700 | 1.000 | 3 | 2007 | 2016 | |||||
|
1 | 1.000 | 0.080 | 1 | 75761120 | splice acceptor variant | A/C | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2006 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 75739978 | splice acceptor variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75749417 | splice acceptor variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75745815 | missense variant | A/C | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.120 | 1 | 75761161 | missense variant | A/C;G | snv | 3.3E-03 | 0.900 | 1.000 | 58 | 1990 | 2020 | ||||
|
1 | 1.000 | 0.080 | 1 | 75762690 | splice acceptor variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75740088 | missense variant | A/G | snv | 0.800 | 1.000 | 16 | 1990 | 2001 | |||||
|
1 | 1.000 | 0.080 | 1 | 75749507 | missense variant | A/G | snv | 3.2E-04 | 1.7E-04 | 0.700 | 1.000 | 6 | 2005 | 2014 | |||
|
1 | 1.000 | 0.080 | 1 | 75740091 | missense variant | A/G | snv | 2.0E-05 | 0.700 | 1.000 | 4 | 2008 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 75733526 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 2 | 2005 | 2010 | |||||
|
1 | 1.000 | 0.080 | 1 | 75732659 | missense variant | A/G | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 75750449 | splice acceptor variant | A/G | snv | 8.2E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 1 | 75724788 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75761231 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 75749452 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75762704 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2017 |