| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.160 | 19 | 35033654 | stop gained | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 17 | 1998 | 2016 | ||||||||
|
0.807 | 0.240 | 15 | 89323460 | missense variant | C/G;T | snv | 6.9E-04; 4.0E-06 |
|
0.700 | 1.000 | 9 | 2006 | 2015 | ||||||||
|
0.882 | 0.160 | 20 | 63350560 | missense variant | G/A | snv |
|
0.700 | 1.000 | 9 | 1999 | 2013 | |||||||||
|
1.000 | 0.080 | 15 | 89318736 | missense variant | C/A;T | snv | 1.2E-05; 2.0E-05 |
|
0.700 | 1.000 | 9 | 2006 | 2013 | ||||||||
|
0.790 | 0.120 | 20 | 63439609 | missense variant | C/G;T | snv |
|
0.710 | 1.000 | 9 | 1993 | 2016 | |||||||||
|
0.925 | 0.040 | 20 | 63415086 | stop gained | G/A;T | snv | 4.2E-06 |
|
0.700 | 1.000 | 6 | 1984 | 2015 | ||||||||
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv |
|
0.710 | 1.000 | 6 | 2000 | 2019 | |||||||||
|
20 | 63444765 | missense variant | G/A | snv |
|
0.700 | 1.000 | 5 | 2007 | 2015 | |||||||||||
|
0.851 | 0.200 | MT | 15923 | non coding transcript exon variant | A/G | snv |
|
0.700 | 1.000 | 4 | 1993 | 2018 | |||||||||
|
0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins |
|
0.700 | 1.000 | 4 | 2012 | 2016 | |||||||||
|
1.000 | 0.120 | 11 | 6616375 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2009 | 2013 | ||||||||
|
0.925 | 0.080 | 17 | 2666053 | frameshift variant | A/-;AA | delins |
|
0.700 | 1.000 | 3 | 1999 | 2003 | |||||||||
|
1.000 | 20 | 63406659 | frameshift variant | -/GCCCA | delins |
|
0.700 | 1.000 | 3 | 2003 | 2014 | ||||||||||
|
9 | 135768856 | missense variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2015 | 2017 | |||||||||||
|
0.882 | 0.200 | 7 | 140778011 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 3 | 2006 | 2009 | |||||||||
|
0.882 | 0.080 | 5 | 162149153 | missense variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2013 | 2015 | |||||||||
|
0.925 | 0.040 | 22 | 31815209 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2013 | 2015 | ||||||||
|
0.827 | 0.160 | 1 | 42927684 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
0.925 | 20 | 63413526 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 3 | 2013 | 2015 | ||||||||||
|
1.000 | 0.080 | X | 49077715 | inframe deletion | CCA/- | delins |
|
0.700 | 1.000 | 3 | 2012 | 2013 | |||||||||
|
0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||||
|
0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.882 | 0.040 | 20 | 49374931 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||||
|
0.882 | 0.280 | 16 | 2496206 | stop gained | C/G;T | snv | 6.0E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2015 |