| 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 | 6 | 64066349 | frameshift variant | A/- | del | 2.8E-05 |
|
0.700 | 1.000 | 5 | 2008 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 215674335 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.925 | 0.080 | X | 38286615 | frameshift variant | T/- | del |
|
0.700 | 1.000 | 2 | 2000 | 2002 | |||||||||
|
0.925 | 0.080 | 9 | 32541968 | frameshift variant | CTCT/-;CT | delins | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2007 | 2019 | ||||||||
|
0.807 | 0.160 | 3 | 129528783 | missense variant | C/T | snv | 7.0E-06 |
|
0.750 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.807 | 0.160 | 3 | 129530917 | missense variant | C/T | snv |
|
0.730 | 1.000 | 1 | 2006 | 2019 | |||||||||
|
0.925 | 0.080 | 3 | 129532253 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.080 | 6 | 42178374 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.882 | 0.080 | 14 | 67726086 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | X | 46853731 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.080 | 15 | 71811530 | missense variant | G/A;T | snv |
|
0.720 | 1.000 | 1 | 2009 | 2019 | |||||||||
|
0.925 | 0.080 | X | 46837115 | inframe deletion | TCC/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 8 | 54626489 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
1.000 | 0.080 | 1 | 94063315 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 1 | 215674564 | protein altering variant | AGAGTCCATGTTC/CAAG | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 3 | 129531023 | missense variant | C/G | snv |
|
0.700 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
1.000 | 0.080 | 4 | 660546 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 8 | 54625938 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.080 | 8 | 54626050 | frameshift variant | GATACTTTGTGAGG/- | delins |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
1.000 | 0.080 | 9 | 32541956 | frameshift variant | T/- | delins |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.080 | 15 | 76728739 | splice acceptor variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | X | 38286675 | frameshift variant | TC/- | delins |
|
0.700 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.925 | 0.080 | X | 38286762 | frameshift variant | CT/- | delins |
|
0.700 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
1.000 | 0.080 | X | 38297325 | frameshift variant | CT/- | delins |
|
0.700 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.807 | 0.080 | 1 | 94029447 | frameshift variant | G/-;GG | delins | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2001 | 2001 |