Variant Results

or

Results for "CHST9"

Variant Events: 48

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

CHST9

1-0384-003

chr18:
24496716-24496716

C

T

exonic

De novo

nonsynonymous SNV

NM_031422

c.G839A

p.R280H

23.0

8.286E-6

Yuen2017 G

CHST9

AU3645301

chr18:
25312938-25312938

G

C

intergenic

De novo

-

Yuen2017 G

CHST9

1-0452-003

chr18:
25528252-25528252

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CHST9

11285.p1

chr18:
25514348-25514348

A

G

intergenic

De novo

-

Werling2018 G

CHST9

2-0149-004

chr18:
24623373-24623373

G

A

intronic

De novo

-

Yuen2017 G

CHST9

AU1668302

chr18:
25110382-25110382

T

C

intergenic

De novo

-

Yuen2017 G

CHST9

2-1275-003

chr18:
25413072-25413072

A

C

intergenic

De novo

-

Yuen2017 G

CHST9

1-0554-003

chr18:
25491294-25491294

T

C

intergenic

De novo

-

Yuen2017 G

CHST9

AU3263301

chr18:
25492255-25492255

T

C

intergenic

De novo

-

Yuen2017 G

CHST9

1-0169-003

chr18:
24537932-24537932

C

G

intronic

De novo

-

Yuen2017 G

CHST9

1-0150-004

chr18:
25342519-25342519

A

G

intergenic

De novo

-

Yuen2017 G

CHST9

1-0206-004

chr18:
24611660-24611660

G

A

intronic

De novo

-

Yuen2017 G

CHST9

1-0305-004

chr18:
25080617-25080617

T

G

intergenic

De novo

-

Yuen2017 G

CHST9

AU0039303

chr18:
25340236-25340236

G

A

intergenic

De novo

-

Yuen2017 G

CHST9

2-1261-003

chr18:
24835065-24835065

A

G

intergenic

De novo

-

Yuen2017 G

CHST9

1-0191-004

chr18:
24846151-24846151

G

T

intergenic

De novo

-

Yuen2017 G

CHST9

AU031204

chr18:
25450425-25450425

T

G

intergenic

De novo

-

Yuen2017 G

CHST9

AU4423303

chr18:
25260083-25260083

C

T

intergenic

De novo

-

Yuen2017 G

CHST9

2-1169-004

chr18:
24668640-24668640

G

C

intronic

De novo

-

Yuen2017 G

CHST9

1-0104-004

chr18:
24537932-24537932

C

G

intronic

De novo

-

Yuen2017 G

CHST9

11194.p1

chr18:
24776270-24776270

A

G

intergenic

De novo

-

Turner2016 G

CHST9

13023.p1

chr18:
25198279-25198279

G

T

intergenic

De novo

-

Turner2016 G

CHST9

2-1459-003

chr18:
25365810-25365810

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CHST9

AU3906301

chr18:
24581279-24581279

C

T

intronic

De novo

-

Yuen2017 G

CHST9

13874.p1

chr18:
25139221-25139221

G

T

intergenic

De novo

-

Turner2016 G
Werling2018 G

CHST9

1-0553-003

chr18:
25346993-25346995

CTG

C

intergenic

De novo

-

Yuen2017 G

CHST9

2-1336-003

chr18:
24630998-24630998

T

C

intronic

De novo

-

Yuen2017 G

CHST9

AU2123302

chr18:
24871509-24871509

T

C

intergenic

De novo

-

Yuen2017 G

CHST9

11572.p1

chr18:
25481703-25481703

G

T

intergenic

De novo

-

Turner2016 G

CHST9

2-1693-003

chr18:
25450809-25450809

G

A

intergenic

De novo

-

Yuen2017 G

CHST9

AU2248301

chr18:
25287791-25287791

T

C

intergenic

De novo

-

Yuen2017 G

CHST9

14101.p1

chr18:
24689923-24689923

A

G

intronic

De novo

-

Werling2018 G

CHST9

2-1725-003

chr18:
24813302-24813302

T

C

intergenic

De novo

-

Yuen2017 G

CHST9

2-1196-003

chr18:
24780690-24780690

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CHST9

1-0896-003

chr18:
25026941-25026943

CTT

C

intergenic

De novo

-

Yuen2017 G

CHST9

AU4176302

chr18:
25126575-25126575

C

A

intergenic

De novo

-

Yuen2017 G

CHST9

1-0169-004

chr18:
24879942-24879942

A

ATTTG

intergenic

De novo

-

Yuen2017 G

CHST9

2-1338-003

chr18:
25119933-25119933

C

G

intergenic

De novo

-

Yuen2017 G

CHST9

1-0054-004

chr18:
24575178-24575178

G

A

intronic

De novo

-

Yuen2017 G

CHST9

7-0129-003

chr18:
24715545-24715545

C

T

intronic

De novo

-

Yuen2017 G

CHST9

1-0218-004

chr18:
25333205-25333205

G

T

intergenic

De novo

-

Yuen2017 G

CHST9

2-1330-003

chr18:
24915337-24915337

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CHST9

1-0636-003

chr18:
25275393-25275397

CGGGG

CGGG

intergenic

De novo

-

Yuen2017 G

CHST9

AU2793301

chr18:
25323265-25323265

A

T

intergenic

De novo

-

Yuen2017 G

CHST9

1-0541-003

chr18:
24949901-24949901

T

C

intergenic

De novo

-

Yuen2017 G

CHST9

AU1742302

chr18:
24725563-24725563

G

T

intronic

De novo

-

Yuen2017 G

CHST9

AU3857301

chr18:
25326732-25326732

T

C

intergenic

De novo

-

Yuen2017 G

CHST9

AU3846302

chr18:
25092218-25092218

A

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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