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Results for "CWC22"
Variant Events: 53
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
CWC22
AU3506302
chr2:
181544161-181544161
A
G
intergenic
De novo
-
-
Yuen2017
G
CWC22
2-1180-003
chr2:
180926635-180926635
T
C
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CWC22
AU4235302
chr2:
181261270-181261273
AGGG
AGG
intergenic
De novo
-
-
Yuen2017
G
CWC22
AU3763305
chr2:
181430758-181430758
G
C
intergenic
De novo
-
-
Yuen2017
G
CWC22
Shi2013:1
chr2:
180853362-180853362
C
A
exonic
Inherited
nonsynonymous SNV
NM_020943
c.G37T
p.G13C
18.58
4.0E-4
Shi2013
G
CWC22
1-0539-003
chr2:
181180054-181180054
C
T
intergenic
De novo
-
-
Yuen2017
G
CWC22
AU071804
chr2:
181451290-181451290
G
T
intergenic
De novo
-
-
Yuen2017
G
CWC22
1-0079-003
chr2:
181249932-181249935
ACTC
A
intergenic
De novo
-
-
Yuen2017
G
CWC22
1-0406-003
chr2:
181372058-181372058
C
CAATAATAATAAT
intergenic
De novo
-
-
Yuen2017
G
CWC22
3-0111-000
chr2:
181447496-181447496
G
A
intergenic
De novo
-
-
Yuen2016
G
CWC22
AU3808305
chr2:
181137319-181137319
C
A
intergenic
De novo
-
-
Yuen2017
G
CWC22
7-0253-003
chr2:
181464946-181464946
C
A
intergenic
De novo
-
-
Yuen2017
G
CWC22
3-0113-000
chr2:
180829698-180829698
C
T
intronic
De novo
-
-
Trost2022
G
CWC22
3-0497-001
chr2:
180846341-180846341
G
A
intronic
De novo
-
-
Trost2022
G
CWC22
AU002903
chr2:
181118292-181118292
G
A
intergenic
De novo
-
-
Yuen2017
G
CWC22
4-0062-003
chr2:
180810540-180810542
CAG
AAC
intronic
De novo
-
-
Trost2022
G
CWC22
2-0160-003
chr2:
180816558-180816558
A
C
intronic
De novo
-
-
Trost2022
G
CWC22
AU2975302
chr2:
181048627-181048627
A
G
intergenic
De novo
-
-
Yuen2017
G
CWC22
AU3964302
chr2:
181455811-181455811
C
T
intergenic
De novo
-
-
Yuen2017
G
CWC22
AGG0095
chr2:
180810009-180810009
A
C
exonic
De novo
nonsynonymous SNV
NM_020943
c.T2574G
p.N858K
1.652
-
Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
CWC22
AU023012
chr2:
180855618-180855618
G
A
intronic
De novo
-
-
Trost2022
G
CWC22
2-1270-005
chr2:
180862657-180862657
G
A
intronic
De novo
-
-
Trost2022
G
CWC22
2-1486-003
chr2:
180968730-180968730
C
T
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CWC22
2-0503-004
chr2:
180941882-180941882
C
T
intergenic
De novo
-
-
Yuen2017
G
CWC22
1-0186-005
chr2:
181079616-181079616
G
A
intergenic
De novo
-
-
Yuen2017
G
CWC22
1-0044-003
chr2:
181103728-181103728
T
G
intergenic
De novo
-
-
Yuen2017
G
CWC22
A9
chr2:
181495668-181495668
C
T
intergenic
De novo
-
-
Wu2018
G
CWC22
2-1415-004
chr2:
181245618-181245618
G
A
intergenic
De novo
-
-
Yuen2017
G
CWC22
2-1127-003
chr2:
181426682-181426682
G
C
intergenic
De novo
-
-
Yuen2017
G
CWC22
Shi2013:2
chr2:
180853362-180853362
C
A
exonic
Inherited
nonsynonymous SNV
NM_020943
c.G37T
p.G13C
18.58
4.0E-4
Shi2013
G
CWC22
AU2975301
chr2:
181048627-181048627
A
G
intergenic
De novo
-
-
Yuen2017
G
CWC22
2-1529-003
chr2:
180823913-180823913
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CWC22
7-0253-005
chr2:
181235515-181235515
C
T
intergenic
De novo
-
-
Yuen2017
G
CWC22
AU2129303
chr2:
180953854-180953854
C
T
intergenic
De novo
-
-
Yuen2017
G
CWC22
A5
chr2:
180883540-180883540
G
C
intergenic
De novo
-
-
Wu2018
G
CWC22
AU3955303
chr2:
181170933-181170933
T
C
intergenic
De novo
-
-
Yuen2017
G
CWC22
AU1795301
chr2:
181403909-181403909
A
C
intergenic
De novo
-
-
Yuen2017
G
CWC22
2-0503-003
chr2:
180941882-180941882
C
T
intergenic
De novo
-
-
Yuen2017
G
CWC22
2-0210-004
chr2:
181344187-181344187
A
G
intergenic
De novo
-
-
Yuen2017
G
CWC22
2-1437-004
chr2:
181468250-181468250
A
AATTAAG
intergenic
De novo
-
-
Yuen2017
G
CWC22
1-0219-003
chr2:
181473021-181473021
T
C
intergenic
De novo
-
-
Yuen2017
G
CWC22
2-0278-003
chr2:
181341118-181341118
C
T
intergenic
De novo
-
-
Yuen2017
G
CWC22
2-1486-003
chr2:
181064174-181064174
C
T
intergenic
De novo
-
-
Yuen2017
G
CWC22
2-1153-003
chr2:
181465929-181465929
T
C
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CWC22
AU3912302
chr2:
181471515-181471515
T
A
intergenic
De novo
-
-
Yuen2017
G
CWC22
2-1153-003
chr2:
180832297-180832297
T
A
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
CWC22
1-0485-003
chr2:
181384823-181384823
T
G
intergenic
De novo
-
-
Yuen2017
G
CWC22
SP0032324
chr2:
180851532-180851532
T
C
exonic
synonymous SNV
NM_020943
c.A96G
p.R32R
-
-
Zhou2022
G
E
CWC22
2-0309-005
chr2:
180973602-180973602
T
C
intergenic
De novo
-
-
Yuen2017
G
CWC22
2-1398-004
chr2:
181093015-181093015
C
A
intergenic
De novo
-
-
Yuen2017
G
CWC22
2-1526-003
chr2:
181390840-181390840
A
G
intergenic
De novo
-
-
Yuen2017
G
CWC22
5-0033-004
chr2:
181299768-181299768
T
TA
intergenic
De novo
-
-
Yuen2017
G
CWC22
AU057405
chr2:
180991422-180991422
T
G
intergenic
De novo
-
-
Yuen2017
G
Source Variant Information
?
, -
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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