Variant Results

or

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Results for "ADCK1"

Variant Events: 27

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

ADCK1

1-0271-004

chr14:
78471899-78471899

C

T

intergenic

De novo

-

-

Yuen2017 G

ADCK1

2-1317-003

chr14:
78600500-78600500

C

T

intergenic

De novo

-

-

Yuen2016 G

ADCK1

7-0095-003

chr14:
78296585-78296585

T

C

intronic

De novo

-

-

Yuen2017 G

ADCK1

2-1169-004

chr14:
78550621-78550621

G

A

intergenic

De novo

-

-

Yuen2017 G

ADCK1

11194.p1

chr14:
78307905-78307905

G

T

intronic

De novo

-

-

Turner2016 G

ADCK1

13515.p1

chr14:
78378091-78378091

A

T

intronic

De novo

-

-

Turner2016 G

ADCK1

2-1382-003

chr14:
78394213-78394213

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ADCK1

2-1288-003

chr14:
78491366-78491366

C

G

intergenic

De novo

-

-

Yuen2017 G

ADCK1

AU1952305

chr14:
78347872-78347872

C

T

intronic

De novo

-

-

Yuen2017 G

ADCK1

AU1404301

chr14:
78699957-78699957

G

A

intergenic

De novo

-

-

Yuen2017 G

ADCK1

5-0040-003

chr14:
78296585-78296585

T

C

intronic

De novo

-

-

Yuen2017 G

ADCK1

1-0375-003

chr14:
78672483-78672483

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

ADCK1

2-0305-003

chr14:
78570522-78570522

G

T

intergenic

De novo

-

-

Yuen2017 G

ADCK1

2-1093-003

chr14:
78293643-78293643

T

C

intronic

De novo

-

-

Yuen2017 G

ADCK1

3-0080-000

chr14:
78308502-78308502

A

T

intronic

De novo

-

-

Yuen2016 G

ADCK1

AU3903301

chr14:
78676951-78676951

G

A

intergenic

De novo

-

-

Yuen2017 G

ADCK1

5-0061-003

chr14:
78293651-78293651

G

C

intronic

De novo

-

-

Yuen2017 G

ADCK1

2-0238-004

chr14:
78303752-78303752

A

AT

intronic

De novo

-

-

Yuen2017 G

ADCK1

AU4015303

chr14:
78317617-78317617

C

T

intronic

De novo

-

-

Yuen2017 G

ADCK1

1-0126-003

chr14:
78688788-78688788

C

A

intergenic

De novo

-

-

Yuen2017 G

ADCK1

1-0563-003

chr14:
78367985-78367985

G

A

intronic

De novo

-

-

Yuen2017 G

ADCK1

1-0898-003

chr14:
78410643-78410643

T

C

intergenic

De novo

-

-

Yuen2017 G

ADCK1

7-0256-003

chr14:
78441355-78441358

GAAA

GAA

intergenic

De novo

-

-

Yuen2017 G

ADCK1

2-1330-003

Complex Event; expand row to view variants

De novo

-

-

Yuen2016 G
Yuen2017 G

ADCK1

2-0043-003

chr14:
78654470-78654470

C

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

ADCK1

2-0043-003

chr14:
78660380-78660380

G

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

ADCK1

3-0482-000

chr14:
78468398-78468398

C

T

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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