Variant Results

or

or

Results for "COL26A1"

Variant Events: 23

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

COL26A1

2-1261-004

chr7:
101005390-101005390

A

C

upstream

De novo

-

-

Trost2022 G
Yuen2017 G

COL26A1

12582.p1

chr7:
101091005-101091005

C

T

exonic

De novo

unknown

20.7

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

COL26A1

7-0255-003

chr7:
101176354-101176354

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

COL26A1

SP0018069

chr7:
101188786-101188786

T

TG

intronic

De novo

-

-

Fu2022 E

COL26A1

2-1235-004

chr7:
101060229-101060231

GCC

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

COL26A1

SSC05882

chr7:
101091005-101091005

C

T

exonic

De novo

unknown

20.7

-

Fu2022 E
Lim2017 E
Trost2022 G

COL26A1

11456.p1

Complex Event; expand row to view variants

De novo

-

-

Turner2016 G
Turner2016 G

COL26A1

SP0040571

chr7:
101188758-101188762

TACAG

T

exonic

De novo

unknown

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

COL26A1

1-0985-003

chr7:
101182559-101182601

CTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTG

CTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTG

intronic

De novo

-

-

Yuen2017 G

COL26A1

7-0100-004

chr7:
101150478-101150478

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

COL26A1

AU012804

chr7:
101176761-101176761

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

COL26A1

AU3888302

chr7:
101147864-101147864

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

COL26A1

12588.p1

chr7:
101188687-101188687

C

T

exonic

unknown

17.96

-

Zhou2022 GE

COL26A1

AU3907302

chr7:
101163148-101163148

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

COL26A1

2-1433-004

chr7:
101183683-101183683

G

A

intronic

De novo

-

-

Trost2022 G

COL26A1

1-0844-003

chr7:
101198421-101198421

T

C

intronic

De novo

-

-

Trost2022 G

COL26A1

5-5040-003

chr7:
101074357-101074357

A

C

intronic

De novo

-

-

Trost2022 G

COL26A1

AU3729301

chr7:
101077487-101077487

C

T

intronic

De novo

-

-

Trost2022 G

COL26A1

2-1235-004

chr7:
101044841-101044843

AGA

GGT

intronic

De novo

-

-

Trost2022 G

COL26A1

7-0012-003

chr7:
101128746-101128746

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

COL26A1

3-0835-000

chr7:
101068851-101068851

C

T

intronic

De novo

-

-

Trost2022 G

COL26A1

2-0142-003

chr7:
101005484-101005485

AG

A

upstream

De novo

-

-

Trost2022 G

COL26A1

5-5165-003

chr7:
101012124-101012124

G

A

intronic

De novo

-

-

Trost2022 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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