| 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 | 0.040 | 19 | 33302225 | frameshift variant | TGTCG/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302267 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302347 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302274 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302213 | frameshift variant | -/TAGG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302095 | frameshift variant | -/CA | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302197 | frameshift variant | -/G | ins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33301423 | inframe insertion | -/TTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33301463 | inframe insertion | -/GCTCCAGCACCTTCTGCTGCGTCTCCA | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302076 | frameshift variant | GGGCGCGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302295 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302164 | missense variant | T/A | snv |
|
0.800 | 1.000 | 0 | 2001 | 2013 | |||||||||
|
1.000 | 0.040 | 19 | 33302294 | frameshift variant | GCGGGGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302200 | frameshift variant | -/CCGG | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.080 | 1 | 36467833 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.040 | 5 | 177515944 | stop gained | -/CATC | delins | 8.7E-05 | 7.0E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.240 | 5 | 34937431 | stop gained | C/T | snv | 2.8E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 |
|
0.800 | 1.000 | 10 | 2010 | 2019 | ||||||||
|
0.827 | 0.240 | 2 | 25234374 | missense variant | G/A;C;T | snv | 1.2E-04; 8.0E-06 |
|
0.710 | 1.000 | 8 | 2010 | 2016 | ||||||||
|
0.925 | 0.200 | 2 | 25247685 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 2 | 25235779 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 12 | 11839202 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 12 | 11890994 | protein altering variant | -/GGG | ins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv |
|
0.740 | 1.000 | 19 | 2001 | 2019 | |||||||||
|
0.882 | 0.120 | 13 | 28018504 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 17 | 2001 | 2014 |