Variant Results

or

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 GE

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 GE

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	View
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