| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.280 | 1 | 11965571 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.360 | 1 | 25809150 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 1 | 26773716 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.360 | 1 | 25811710 | missense variant | G/A;C;T | snv | 4.3E-06; 4.3E-06; 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 2 | 201675255 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins |
|
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 | ||||||||||||
|
0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.360 | 5 | 140114480 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.280 | 7 | 66633410 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.280 | 7 | 23165737 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.280 | 7 | 66638394 | missense variant | G/A | snv | 1.2E-05 |
|
0.700 | 0 |