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 | X | 154379730 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.763 | 0.160 | 14 | 23424059 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154379737 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154379740 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154379968 | frameshift variant | -/AT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154379500 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154379707 | stop gained | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154381037 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.160 | 14 | 23424112 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
10 | 0.763 | 0.160 | 14 | 23431468 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.160 | 14 | 23429279 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
17 | 0.716 | 0.280 | 14 | 23425316 | missense variant | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 0 | |||||||
|
9 | 0.763 | 0.160 | 14 | 23426834 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.160 | 14 | 23424041 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.160 | 14 | 23431602 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.160 | 14 | 23429345 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 14 | 23424025 | missense variant | T/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | X | 154379496 | stop gained | C/G;T | snv | 1.7E-05 | 6.5E-05 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.160 | 14 | 23428534 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154379544 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 154379567 | splice donor variant | G/T | snv | 0.700 | 1.000 | 1 | 1995 | 1995 | |||||
|
3 | 0.925 | 0.120 | X | 154381106 | frameshift variant | TCTGG/- | del | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
1 | 1.000 | 0.120 | X | 154380980 | missense variant | C/A;T | snv | 0.800 | 1.000 | 4 | 1999 | 2004 | |||||
|
1 | 1.000 | 0.120 | X | 154380979 | missense variant | C/A | snv | 0.800 | 1.000 | 4 | 1999 | 2004 | |||||
|
1 | 1.000 | 0.120 | X | 154381052 | frameshift variant | G/- | delins | 0.700 | 1.000 | 4 | 1995 | 2005 |