Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.280 | 15 | 48600217 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.280 | 9 | 85596450 | splice acceptor variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.400 | 11 | 118477973 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.280 | 15 | 48470705 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 15 | 48485436 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.480 | 19 | 35718020 | frameshift variant | -/GGCGGGCGGCGGC | delins |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 12 | 2653847 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.320 | 3 | 41227287 | protein altering variant | CCACAAGCAG/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.360 | 11 | 61774051 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 16 | 3729444 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.360 | 1 | 25809150 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.732 | 0.520 | 20 | 32433408 | stop gained | C/T | snv | 2.0E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 16 | 23544677 | missense variant | G/A | snv | 1.5E-04 | 2.0E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 1 | 26773716 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.280 | 7 | 66633410 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.240 | 15 | 48488112 | splice donor variant | C/A;T | snv |
|
0.700 | 0 |