| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.160 | 3 | 41225049 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 1989 | 2017 | |||||
|
3 | 0.882 | 0.080 | 3 | 41233777 | frameshift variant | -/C | ins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 3 | 41234286 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 41224980 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 41225138 | stop gained | -/CAAGATGATGCAGAACTTGCCACACGTGCAATCCCTGAACTGAC | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 41225790 | frameshift variant | ACA/CC | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 41233763 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 41225208 | splice donor variant | G/C | snv | 0.700 | 0 | |||||||||
|
26 | 0.732 | 0.320 | 3 | 41227287 | protein altering variant | CCACAAGCAG/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 41233640 | stop gained | A/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 41234202 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 41236709 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 41225850 | stop gained | C/G;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 41234157 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 41233611 | frameshift variant | TTCT/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 41225542 | frameshift variant | -/A | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 41236614 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
|
10 | 0.776 | 0.160 | 3 | 41224995 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 3 | 41233614 | missense variant | T/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 41234217 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 41227268 | stop gained | -/A | delins | 0.700 | 0 |