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 | 0.120 | 14 | 28767833 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28767964 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28768044 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 14 | 28768479 | stop gained | C/A;G;T | snv | 6.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 14 | 28767780 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28767493 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28767779 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28767992 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28768043 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28768103 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28767678 | frameshift variant | AGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28767982 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28768042 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
38 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 14 | 28768203 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28767535 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28767411 | frameshift variant | C/-;CC;CCC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28767447 | frameshift variant | ACCCGCCGCC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28767539 | frameshift variant | GGGGCGCCCCGGCCGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28767573 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28768034 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28768036 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28768041 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28768078 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 28767949 | missense variant | G/A | snv | 0.700 | 0 |