| 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 | 11 | 32396363 | frameshift variant | -/ACCGTACA | ins |
|
0.700 | 1.000 | 6 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 19 | 33302095 | frameshift variant | -/CA | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 5 | 177515944 | stop gained | -/CATC | delins | 8.7E-05 | 7.0E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 5 | 171410542 | frameshift variant | -/CATG;CCTG;TCAG;TCTG | ins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 5 | 171410541 | frameshift variant | -/CATG;CGTG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 12 | 25245355 | inframe insertion | -/CCA | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302200 | frameshift variant | -/CCGG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 5 | 171410540 | frameshift variant | -/CCTG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302197 | frameshift variant | -/G | ins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302295 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33301463 | inframe insertion | -/GCTCCAGCACCTTCTGCTGCGTCTCCA | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 12 | 11890994 | protein altering variant | -/GGG | ins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33302213 | frameshift variant | -/TAGG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 13 | 28018487 | inframe insertion | -/TCCGGA | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 171410539 | frameshift variant | -/TCTG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 33301423 | inframe insertion | -/TTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTG | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 5 | 177210250 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 13 | 28018501 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
1.000 | 0.040 | 13 | 28034148 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
1.000 | 0.040 | 13 | 28034139 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 3 | 2014 | 2014 | |||||||||
|
0.763 | 0.360 | 17 | 7675191 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.689 | 0.400 | 17 | 7675075 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.240 | 17 | 7675086 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |