Variant Results

or

or

Results for "COL14A1"

Variant Events: 22

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

COL14A1

AU1909304

chr8:
121198112-121198112

A

G

intronic

De novo

-

-

Yuen2017 G

COL14A1

AU3190305

chr8:
121180581-121180584

AGGG

AGG

intronic

De novo

-

-

Yuen2017 G

COL14A1

80001102279

chr8:
121224794-121224794

T

C

exonic

De novo

synonymous SNV

NM_021110

c.T1575C

p.P525P

9.527

Fu2022 E
Lim2017 E

COL14A1

AU4378301

chr8:
121402835-121402835

G

A

intergenic

De novo

-

-

Yuen2017 G

COL14A1

SP0006954

chr8:
121263085-121263085

C

A

intronic

De novo

-

-

Fu2022 E

COL14A1

SP0092636

chr8:
121243685-121243685

C

T

intronic

De novo

-

-

Fu2022 E

COL14A1

1-0552-003

chr8:
121227023-121227023

A

G

intronic

De novo

-

-

Yuen2017 G

COL14A1

1-0976-003

chr8:
121389557-121389557

A

G

intergenic

De novo

-

-

Yuen2017 G

COL14A1

1-0289-004

chr8:
121181159-121181159

A

G

intronic

De novo

-

-

Yuen2017 G

COL14A1

AU3124302

chr8:
121374280-121374280

A

C

intronic

De novo

-

-

Yuen2017 G

COL14A1

AU4483301

chr8:
121193655-121193655

C

T

intronic

De novo

-

-

Yuen2017 G

COL14A1

JASD_Fam0177

chr8:
121211702-121211702

A

C

exonic

De novo

synonymous SNV

NM_021110

c.A774C

p.G258G

-

-

Takata2018 E

COL14A1

5-0061-003

chr8:
121325008-121325008

C

T

intronic

De novo

-

-

Yuen2017 G

COL14A1

NP062

chr8:
121211702-121211702

A

C

exonic

De novo

synonymous SNV

NM_021110

c.A774C

p.G258G

-

-

Fu2022 E
Lim2017 E
Satterstrom2020 E

COL14A1

2-1169-004

chr8:
121346644-121346644

A

G

intronic

De novo

-

-

Yuen2017 G

COL14A1

14465.p1

chr8:
121293862-121293862

A

AG

intronic

De novo

-

-

Werling2018 G

COL14A1

2-1277-004

chr8:
121267506-121267506

C

A

exonic

De novo

nonsynonymous SNV

NM_021110

c.C2780A

p.A927D

14.47

-

Yuen2017 G

COL14A1

1-0553-003

chr8:
121377341-121377341

T

C

intronic

De novo

-

-

Yuen2017 G

COL14A1

AU3692302

chr8:
121198156-121198156

C

A

intronic

De novo

-

-

Yuen2017 G

COL14A1

12793.p1

chr8:
121323486-121323486

G

A

intronic

De novo

-

-

Turner2016 G

COL14A1

EGAN00001101275

chr8:
121301949-121301949

G

A

exonic

De novo

nonsynonymous SNV

NM_021110

c.G4180A

p.V1394I

5.617

-

Fu2022 E
Satterstrom2020 E

COL14A1

DEASD_0073_001

chr8:
121302022-121302022

G

A

intronic

De novo

-

Kosmicki2017 E

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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