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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 12 | 102840416 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102894758 | frameshift variant | G/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102894732 | splice donor variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102852867 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 12 | 102912819 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 12 | 102851724 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 12 | 102917009 | intron variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102840421 | frameshift variant | CT/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102840506 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102843665 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102846953 | splice acceptor variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102852822 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102854489 | splice donor variant | ATTAAGCTACTCAGATTTCAATTCAGTCCAAATTCACTGAATACCTGCTGTATATGCAAGACTGTGCTGGTTGTTTCCATATGCAGCACCTTACTTCATTCTCATAATTTCCCTATGGGAAAAGCTAAAGAGTTGATACAGTGTCCATTTGACAGATGACAAAACTGAGGCAGGTTTACTCAGCTGGAGAGGATTGAAGGCAGGATTCATACCAGATGCACAGACTCAGAGCTCAGGGCTCTTGGCACCATCCCCGAAAATAGCACATTTCTTACACAAACACACACTCCTAACTCATAACACAGCAGGAACTACAGGGCAAACAAAACAAAACAAAACAAAAAAAAACCTCAGTGAAGCACCTTGGGCTTTAAGTGTGAAAGAAAATACTTTTCAGGGACAGGTACACGGCAAAATCCACAGCCTCAGGTGTTTGATTGAATGAAAGTGGATAAACACAGTAGGGGCTGGAGGGAAGGCAGAGCACAGTGAAATTTAGTTCTTCCTGGAGGAATCAACCTGCATGCATTCCTACAAGCACATGCTTTCATACTTGCCTCCACATACTTGTCTTCCCCTTCCCTCTCCTCTGCCTCAATCCTCCCCCAACTTTCTGCAGGGCCATTGACCCTGATGTGGACTTACTCTGCAGGAACTGAGAAACGTCTTCCAGCTGGGGAATGTTATCTTCATGGAAGCCACAGTACTTTTCAAGAAGTGGAAAAATGTGATTGTACTCATAGCAAGCATGGGTTTTATACAAGGACTTCAGAGTCTTGAACACTGTGCCCCATGTTTTCT/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102855231 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102894786 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102917070 | splice donor variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102843692 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102855155 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102866634 | missense variant | TC/GT | mnv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102866635 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102894904 | missense variant | G/C;T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 12 | 102852851 | missense variant | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102852920 | frameshift variant | G/- | del | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 12 | 102844432 | splice acceptor variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 102894802 | missense variant | GA/TG | mnv |
|
0.700 | 0 |