Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.200 | 17 | 43094732 | frameshift variant | AA/-;A;AAA | delins | 0.700 | 1.000 | 16 | 1990 | 2016 | |||||
|
3 | 0.925 | 0.200 | 17 | 43049164 | missense variant | CCACA/TCACT | mnv | 0.700 | 1.000 | 15 | 1998 | 2016 | |||||
|
3 | 0.925 | 0.200 | 17 | 43071046 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 15 | 2003 | 2018 | ||||
|
4 | 0.882 | 0.200 | 17 | 43057117 | stop gained | C/A;T | snv | 0.700 | 1.000 | 15 | 2000 | 2014 | |||||
|
8 | 0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 | 0.700 | 1.000 | 15 | 1994 | 2013 | ||||
|
4 | 0.882 | 0.200 | 17 | 43091783 | stop gained | C/A;T | snv | 8.0E-06; 2.0E-04 | 0.700 | 1.000 | 13 | 1994 | 2015 | ||||
|
6 | 0.882 | 0.200 | 17 | 43104136 | stop gained | C/A;G;T | snv | 8.4E-05 | 0.700 | 1.000 | 13 | 1997 | 2016 | ||||
|
1 | 1.000 | 0.200 | 17 | 43063888 | missense variant | A/G | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 13 | 1995 | 2019 | ||||
|
3 | 0.925 | 0.200 | 17 | 43093460 | frameshift variant | TT/-;T | delins | 0.700 | 1.000 | 13 | 1998 | 2015 | |||||
|
3 | 0.925 | 0.200 | 17 | 43082403 | splice donor variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 13 | 2004 | 2016 | ||||
|
3 | 0.925 | 0.200 | 17 | 43057051 | splice donor variant | C/A;G;T | snv | 0.700 | 1.000 | 13 | 2001 | 2014 | |||||
|
4 | 0.882 | 0.200 | 17 | 43104968 | intron variant | T/C | snv | 0.700 | 1.000 | 13 | 1998 | 2015 | |||||
|
3 | 0.925 | 0.200 | 17 | 43094317 | frameshift variant | ATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACAG/- | delins | 0.700 | 1.000 | 13 | 1994 | 2015 | |||||
|
5 | 0.851 | 0.200 | 17 | 43070932 | frameshift variant | TCTTCTGGGGTCAGGCCAG/- | del | 0.700 | 1.000 | 13 | 1997 | 2016 | |||||
|
4 | 0.882 | 0.200 | 17 | 43094706 | frameshift variant | -/GCTCCACATG | delins | 6.0E-05; 4.0E-06 | 0.700 | 1.000 | 12 | 1997 | 2017 | ||||
|
6 | 0.827 | 0.200 | 17 | 43074482 | stop gained | C/T | snv | 0.700 | 1.000 | 12 | 2001 | 2016 | |||||
|
5 | 0.851 | 0.200 | 17 | 43093074 | frameshift variant | G/- | delins | 0.700 | 1.000 | 12 | 1996 | 2016 | |||||
|
4 | 0.882 | 0.200 | 17 | 43063346 | frameshift variant | CTTT/- | delins | 0.700 | 1.000 | 12 | 1997 | 2016 | |||||
|
3 | 0.925 | 0.200 | 17 | 43094685 | frameshift variant | TGAG/- | del | 0.700 | 1.000 | 12 | 1998 | 2014 | |||||
|
3 | 0.925 | 0.200 | 17 | 43094855 | frameshift variant | A/- | delins | 0.700 | 1.000 | 12 | 1997 | 2016 | |||||
|
3 | 0.925 | 0.200 | 17 | 43063889 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 12 | 1995 | 2017 | |||||
|
6 | 0.827 | 0.200 | 17 | 43057147 | intron variant | C/T | snv | 0.700 | 1.000 | 12 | 2000 | 2015 | |||||
|
3 | 0.925 | 0.200 | 17 | 43106534 | splice acceptor variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 1997 | 2016 | ||||
|
3 | 0.925 | 0.200 | 17 | 43067618 | inframe deletion | ACA/- | delins | 0.700 | 1.000 | 12 | 1996 | 2015 | |||||
|
8 | 0.827 | 0.200 | 17 | 43091933 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 11 | 1998 | 2015 |