| 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 | 10 | 87931195 | intron variant | -/TCTTA | delins |
|
0.030 | 1.000 | 3 | 2014 | 2016 | |||||||||
|
1.000 | 0.040 | 11 | 35202398 | intron variant | C/T | snv | 0.74 |
|
0.020 | < 0.001 | 2 | 2016 | 2016 | ||||||||
|
1.000 | 0.120 | 3 | 37001037 | start lost | A/G | snv | 2.4E-04 | 3.5E-05 |
|
0.020 | 0.500 | 2 | 2009 | 2015 | |||||||
|
1.000 | 0.040 | 13 | 108207498 | 3 prime UTR variant | C/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 14 | 100834675 | non coding transcript exon variant | T/C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 233778772 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 7 | 18935100 | intron variant | T/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 17 | 72124410 | 3 prime UTR variant | A/C | snv | 0.41 | 0.36 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 12 | 1787790 | 3 prime UTR variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 14 | 103137233 | 3 prime UTR variant | G/A;C;T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 14 | 103137316 | 3 prime UTR variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 7 | 47965365 | synonymous variant | C/T | snv | 0.49 | 0.46 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 1 | 97515785 | stop gained | G/A | snv | 8.0E-06 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 2 | 29214054 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 15 | 66436839 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.120 | 16 | 81912655 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.120 | 2 | 29222392 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 6 | 29943448 | missense variant | A/C;G;T | snv | 4.1E-06; 0.17 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 16 | 68829679 | frameshift variant | G/- | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 3 | 186856394 | 3 prime UTR variant | T/C | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 11 | 35231586 | 3 prime UTR variant | C/T | snv | 0.11 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.160 | 19 | 1221990 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 2 | 233637583 | intron variant | A/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 17 | 65537650 | synonymous variant | G/A | snv | 0.60; 5.4E-06 | 0.53 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 1 | 97699474 | missense variant | T/C | snv | 1.7E-03 | 6.1E-03 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |