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 | 12 | 120978894 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 120997588 | missense variant | C/A;T | snv | 1.2E-05; 5.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 12 | 120999269 | frameshift variant | -/CT | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 12 | 120999522 | missense variant | C/T | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 12 | 120978937 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 120999604 | missense variant | A/G | snv | 5.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 12 | 120978769 | start lost | A/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 120979049 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 120979079 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 120988874 | protein altering variant | -/GCA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 120988947 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 120993591 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 120993655 | inframe deletion | GAA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 12 | 120993663 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 120994181 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 120994184 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 120994240 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 120994253 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 120994322 | stop gained | C/A;G;T | snv | 2.1E-05; 2.1E-05; 4.6E-05 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.280 | 12 | 120994315 | frameshift variant | C/-;CC;CCC | delins | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.280 | 12 | 120996568 | missense variant | C/A;G;T | snv | 2.4E-05; 1.9E-04; 3.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 12 | 120994312 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 120978797 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 | 0.700 | 0 |