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 | 0.925 | 0.080 | 18 | 33742954 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.807 | 0.200 | 8 | 132180246 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 154030618 | splice acceptor variant | GGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGG/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | X | 154032473 | frameshift variant | TCTT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 154032416 | frameshift variant | GG/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.200 | X | 154031431 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
46 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
17 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | X | 154031405 | stop gained | G/C;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.080 | X | 154031022 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | X | 154030628 | splice acceptor variant | TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 11025812 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 6 | 33440913 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 25339216 | missense variant | G/A | snv | 0.800 | 1.000 | 6 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.080 | 15 | 25371479 | missense variant | T/A | snv | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25371404 | missense variant | A/G;T | snv | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25371326 | missense variant | A/C | snv | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25370741 | missense variant | G/A | snv | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25339207 | stop gained | G/C | snv | 0.700 | 1.000 | 5 | 1999 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25356840 | missense variant | C/G | snv | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25355989 | missense variant | G/A;C | snv | 8.0E-06 | 0.800 | 1.000 | 5 | 1998 | 2016 | ||||
|
1 | 1.000 | 0.080 | 15 | 25354679 | missense variant | A/C | snv | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25371797 | missense variant | G/T | snv | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25370810 | missense variant | A/G | snv | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25370684 | missense variant | C/G | snv | 0.800 | 1.000 | 5 | 1998 | 2016 |