Variant Results

or

or

Results for "COL5A1"

Variant Events: 14

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

COL5A1

2-0057-004

chr9:
137636536-137636536

T

TGC

intronic

De novo

-

-

Yuen2017 G

COL5A1

2-0323-004

chr9:
137614657-137614657

G

GA

intronic

De novo

-

-

Yuen2017 G

COL5A1

AU4145303

chr9:
137637105-137637105

G

A

intronic

De novo

-

-

Yuen2017 G

COL5A1

5-0025-004

chr9:
137594462-137594462

C

T

intronic

De novo

-

-

Yuen2017 G

COL5A1

AU027506

chr9:
137606135-137606135

T

C

intronic

De novo

-

-

Yuen2017 G

COL5A1

09C95232

chr9:
137653873-137653873

A

G

intronic

De novo

-

-

Satterstrom2020 E

COL5A1

2-0012-004

chr9:
137710272-137710272

C

T

intronic

De novo

-

-

Yuen2017 G

COL5A1

5-0003-003

chr9:
137593870-137593870

G

A

intronic

De novo

-

-

Yuen2017 G

COL5A1

11855.p1

chr9:
137640148-137640150

CAT

C

intronic

Unknown

-

-

Werling2018 G

COL5A1

AU028305

chr9:
137568476-137568476

G

A

intronic

De novo

-

-

Yuen2017 G

COL5A1

2-0057-003

chr9:
137636536-137636536

T

TGC

intronic

De novo

-

-

Yuen2017 G

COL5A1

2-0299-005

chr9:
137583819-137583819

C

T

intronic

De novo

-

-

Yuen2017 G

COL5A1

2-0295-003

chr9:
137684673-137684675

GTA

G

intronic

De novo

-

-

Yuen2017 G

COL5A1

AU4233301

chr9:
137703470-137703470

C

T

intronic

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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