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Results for "CADPS"
Variant Events: 37
Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
CADPS
1-0073-003
chr3:
63077740-63077740
C
T
intergenic
De novo
-
-
Yuen2017
G
CADPS
7-0077-003
chr3:
62784246-62784250
TCCCC
TCCCCC
intronic
De novo
-
-
Yuen2017
G
CADPS
AU3517302
chr3:
63032029-63032029
G
A
intergenic
De novo
-
-
Yuen2017
G
CADPS
1-0051-005
chr3:
62752113-62752113
C
A
intronic
De novo
-
-
Yuen2017
G
CADPS
1-0059-003
chr3:
62693443-62693443
A
G
intronic
De novo
-
-
Yuen2017
G
CADPS
AU4145303
chr3:
62598324-62598324
G
T
intronic
De novo
-
-
Yuen2017
G
CADPS
AU4246304
chr3:
62801696-62801703
AAGAGAGA
AAGA
intronic
De novo
-
-
Yuen2017
G
CADPS
7-0191-003
chr3:
62623298-62623298
A
G
intronic
De novo
-
-
Yuen2017
G
CADPS
7-0127-003
chr3:
62883737-62883737
A
AAATC
intergenic
De novo
-
-
Yuen2017
G
CADPS
1-0582-003
chr3:
62503468-62503468
A
G
intronic
De novo
-
-
Yuen2017
G
CADPS
1-0487-003
chr3:
62650766-62650766
T
A
intronic
De novo
-
-
Yuen2017
G
CADPS
1-0045-004
chr3:
62680241-62680241
A
T
intronic
De novo
-
-
Yuen2017
G
CADPS
2-1721-003
chr3:
62588056-62588056
G
A
intronic
De novo
-
-
Yuen2017
G
CADPS
1-0806-003
chr3:
62664607-62664607
G
T
intronic
De novo
-
-
Yuen2017
G
CADPS
AU3997302
chr3:
62732349-62732349
A
G
intronic
De novo
-
-
Yuen2017
G
CADPS
AU3997302
chr3:
62739541-62739541
G
A
intronic
De novo
-
-
Yuen2017
G
CADPS
AU3721302
chr3:
62750422-62750422
C
T
intronic
De novo
-
-
Yuen2017
G
CADPS
1-0162-004
chr3:
62515651-62515651
T
C
intronic
De novo
-
-
Yuen2017
G
CADPS
2-1153-003
chr3:
63027978-63027978
G
A
intergenic
De novo
-
-
Yuen2017
G
CADPS
1-0834-003
chr3:
62465522-62465522
C
T
intronic
De novo
-
-
Yuen2017
G
CADPS
1-0400-003
chr3:
62498954-62498954
G
A
intronic
De novo
-
-
Yuen2016
G
Yuen2017
G
CADPS
5-0045-003
chr3:
62818077-62818077
A
G
intronic
De novo
-
-
Yuen2017
G
CADPS
09C97625
chr3:
62543117-62543117
C
T
exonic
De novo
synonymous SNV
NM_003716
NM_183393
NM_183394
c.G1716A
c.G1716A
c.G1716A
p.L572L
p.L572L
p.L572L
-
-
DeRubeis2014
E
Kosmicki2017
E
Lim2017
E
Neale2012
E
Satterstrom2020
E
CADPS
2-0318-004
chr3:
62510700-62510700
T
G
intronic
De novo
-
-
Yuen2017
G
CADPS
2-0503-004
chr3:
62811387-62811387
C
A
intronic
De novo
-
-
Yuen2017
G
CADPS
1-0138-003
chr3:
63056140-63056155
TTTACTCCAACTGACC
T
intergenic
De novo
-
-
Yuen2017
G
CADPS
14482.p1
chr3:
62480373-62480373
G
T
intronic
De novo
-
-
Turner2016
G
CADPS
12493.p1
chr3:
62921691-62921691
C
T
intergenic
De novo
-
-
Turner2016
G
CADPS
1-0965-003
chr3:
62801232-62801232
T
C
intronic
De novo
-
-
Yuen2017
G
CADPS
AU3712301
chr3:
62394006-62394006
G
T
intronic
De novo
-
-
Yuen2017
G
CADPS
A2
chr3:
62876136-62876136
G
A
intergenic
De novo
-
-
Wu2018
G
CADPS
14496.p1
chr3:
63026369-63026369
C
T
intergenic
De novo
-
-
Turner2016
G
CADPS
5-0055-003
chr3:
62669144-62669144
A
G
intronic
De novo
-
-
Yuen2017
G
CADPS
2-1729-003
chr3:
62988660-62988660
C
A
intergenic
De novo
-
-
Yuen2017
G
CADPS
AU4356302
chr3:
62605943-62605943
G
A
intronic
De novo
-
-
Yuen2017
G
CADPS
08C72640
chr3:
62536525-62536525
A
G
intronic
De novo
6.126
-
Satterstrom2020
E
CADPS
AU4476302
chr3:
62475514-62475514
T
C
intronic
De novo
-
-
Yuen2017
G
Source Variant Information
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Source:
Paper alias:
No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes
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