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 | 75745815 | missense variant | A/C | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 75740069 | missense variant | T/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 75734788 | splice region variant | T/G | snv | 4.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 75761228 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 75732899 | frameshift variant | CA/-;CACA | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 75724819 | splice donor variant | T/C;G | snv | 6.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 75734829 | frameshift variant | G/- | del | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 75750482 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 75761188 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75750481 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75733583 | inframe deletion | GGATGT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75740111 | splice donor variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 1 | 75734798 | missense variant | C/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 75762717 | frameshift variant | AA/- | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
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 | 75724782 | start lost | GCCAACATGGCA/ACCCCGAAGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75749452 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75739979 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75749525 | frameshift variant | GCAATGGGAGCTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75733560 | frameshift variant | ATTA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75761187 | stop gained | -/TAGAATGAGTTAC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75728472 | stop gained | -/GATTTAG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75734867 | missense variant | T/C | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 75761364 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75762690 | splice acceptor variant | A/C;T | snv | 0.700 | 0 |