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 | 2 | 218812724 | frameshift variant | T/- | del | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 1993 | 1993 | ||||
|
1 | 1.000 | 0.080 | 2 | 218812650 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | |||
|
1 | 1.000 | 0.080 | 2 | 218812929 | stop gained | A/T | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 2 | 218782184 | frameshift variant | -/TGGGCTGCGC | delins | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 2 | 218812926 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 218809720 | stop gained | G/A;C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 218782375 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 218812314 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 218812423 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 218812922 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 218814378 | splice acceptor variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 218814543 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 218814708 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 218812281 | frameshift variant | CG/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 218813096 | splice region variant | G/A;C;T | snv | 9.3E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 218814696 | missense variant | G/C | snv | 1.1E-04 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 218812421 | missense variant | G/C | snv | 3.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 218814187 | missense variant | G/A | snv | 2.8E-05 | 1.0E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 218814397 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 218814417 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 218814433 | missense variant | T/A;C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 218814463 | splice region variant | G/A;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 218814544 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 218814683 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 218809625 | frameshift variant | C/- | delins | 0.700 | 0 |