Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 15 | 25339216 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 6 | 1998 | 2017 | ||||||||
|
1.000 | 0.080 | 15 | 25371479 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 15 | 25371404 | missense variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 15 | 25371326 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 15 | 25370741 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 15 | 25356840 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 15 | 25355989 | missense variant | G/A;C | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||||
|
1.000 | 0.080 | 15 | 25354679 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 15 | 25371797 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 15 | 25370810 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 15 | 25370684 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 15 | 25356893 | missense variant | A/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 15 | 25360443 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 2 | 1998 | 2014 | ||||||||
|
1.000 | 15 | 25356868 | frameshift variant | T/- | delins |
|
0.700 | 1.000 | 12 | 1990 | 2015 | ||||||||||
|
1.000 | 15 | 25356868 | frameshift variant | T/- | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 12 | 1990 | 2015 | |||||||||
|
1.000 | 0.080 | 15 | 25370913 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 12 | 1990 | 2015 | ||||||||
|
1.000 | 0.080 | 15 | 25360443 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 12 | 1990 | 2015 | ||||||||
|
1.000 | 0.080 | 15 | 25339207 | stop gained | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 5 | 1999 | 2016 | ||||||||
|
1.000 | 0.080 | 15 | 25339188 | frameshift variant | TT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 3 | 2001 | 2014 | ||||||||
|
1.000 | 0.080 | 15 | 25370698 | frameshift variant | ATAAT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 2004 | 2009 | ||||||||
|
1.000 | 0.080 | 15 | 25370598 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 15 | 25339142 | frameshift variant | GCATGCCAAATCCTTTGGCATACGTGATGGCCTTCAACAATCTCTCTTTAAGTTTTTCTTTGCTTGAG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 15 | 25339174 | stop gained | -/TCAACAATCTCTCTTTAAGTTTTTCTTTGCTTGAGTATTCCGGAAGTAAAAGCACATTA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 15 | 25339190 | stop gained | AAGT/-;AAGTAAGT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 15 | 25375667 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 |