| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 13 | 32356462 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.882 | 0.200 | 13 | 32376691 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 13 | 32336705 | missense variant | A/G | snv | 2.3E-04 | 1.7E-04 |
|
0.030 | 1.000 | 3 | 2003 | 2017 | |||||||
|
0.851 | 0.200 | 13 | 32356461 | missense variant | T/C | snv | 1.9E-02 | 8.5E-03 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 13 | 32371035 | missense variant | A/C | snv | 1.1E-03 | 1.5E-03 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 13 | 32379413 | missense variant | G/A;T | snv | 9.5E-03 | 8.2E-03 |
|
0.700 | 0 | ||||||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
0.740 | 0.800 | 5 | 2013 | 2016 | |||||||
|
1.000 | 0.080 | 13 | 32337673 | missense variant | C/G | snv | 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 13 | 32332437 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 |
|
0.100 | 0.923 | 13 | 2000 | 2017 | |||||||
|
1.000 | 0.080 | 13 | 32332537 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 13 | 32337816 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 13 | 32371015 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 13 | 32398875 | 3 prime UTR variant | A/C | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 13 | 32337326 | missense variant | A/G | snv | 5.4E-02 | 4.5E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 13 | 32355095 | synonymous variant | A/G;T | snv | 0.23; 8.0E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.120 | 13 | 32398747 | missense variant | A/G | snv | 2.3E-02 | 3.8E-02 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 13 | 32332843 | synonymous variant | A/G | snv | 5.2E-02 | 3.8E-02 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 13 | 32391173 | intron variant | G/A | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.882 | 0.200 | 13 | 32339467 | frameshift variant | AATA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 13 | 32363204 | stop gained | A/G;T | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 32332456 | missense variant | C/A;G;T | snv | 8.1E-04 | 8.1E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 13 | 32332992 | missense variant | T/C | snv | 8.0E-04 | 7.3E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 13 | 32337158 | missense variant | G/A;C;T | snv | 6.1E-04; 6.4E-05 |
|
0.700 | 1.000 | 20 | 1997 | 2006 | ||||||||
|
0.827 | 0.280 | 13 | 32346896 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2020 | 2020 |