Variant Results

or

Results for "COL28A1"

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

COL28A1

7-0256-003

chr7:
7520211-7520211

C

A

intronic

De novo

-

Yuen2017 G

COL28A1

2-0003-003

chr7:
7450673-7450673

G

T

intronic

De novo

-

Yuen2017 G

COL28A1

1-0445-003

chr7:
7464400-7464400

C

T

intronic

De novo

-

Yuen2017 G

COL28A1

1-0661-003

chr7:
7585531-7585531

A

G

intergenic

De novo

-

Yuen2017 G

COL28A1

Li2017:36

chr7:
7545681-7545682

TG

T

exonic

Unknown

frameshift deletion

NM_001037763

c.989delC

p.P330fs

-

Li2017 T

COL28A1

Li2017:21825

chr7:
7529089-7529089

C

T

splicing

Unknown

splicing

17.19

8.427E-6

Li2017 T

COL28A1

Li2017:20107

chr7:
7412852-7412852

T

TA

exonic

Unknown

frameshift insertion

NM_001037763

c.2684dupT

p.V895fs

-

2.485E-5

Li2017 T

COL28A1

AU3124304

chr7:
7529576-7529576

T

C

intronic

De novo

-

Yuen2017 G

COL28A1

A12

chr7:
7493097-7493097

C

T

exonic

De novo

nonsynonymous SNV

NM_001037763

c.G1414A

p.A472T

25.2

1.0E-4

Wu2018 G

COL28A1

SSC10901

chr7:
7410482-7410482

A

C

exonic

De novo

nonsynonymous SNV

NM_001037763

c.T2940G

p.I980M

16.16

-

Fu2022 E

COL28A1

14137.p1

chr7:
7410482-7410482

A

C

exonic

De novo

nonsynonymous SNV

NM_001037763

c.T2940G

p.I980M

16.16

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E

COL28A1

A29

chr7:
7545682-7545683

GG

G

exonic

De novo

frameshift deletion

NM_001037763

c.988delC

p.P330fs

-

Wu2018 G

COL28A1

1-0112-003

chr7:
7408321-7408321

G

A

intronic

De novo

-

Yuen2017 G

COL28A1

Li2017:23092

chr7:
7421215-7421215

C

T

exonic

Unknown

nonsynonymous SNV

NM_001037763

c.G2165A

p.G722D

20.2

3.313E-5

Li2017 T

COL28A1

2-1280-003

chr7:
7444146-7444146

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

COL28A1

2-1163-003

chr7:
7549055-7549055

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

COL28A1

iHART2554

chr7:
7557470-7557470

T

A

splicing

Paternal

splicing

16.36

1.0E-4

Ruzzo2019 G

COL28A1

iHART1264

chr7:
7420320-7420320

G

A

exonic

Maternal

stopgain

NM_001037763

c.C2293T

p.Q765X

36.0

9.942E-5

Ruzzo2019 G

COL28A1

2-0003-004

chr7:
7450673-7450673

G

T

intronic

De novo

-

Yuen2017 G

COL28A1

Li2017:17529

chr7:
7491985-7491985

G

A

exonic

Unknown

stopgain

NM_001037763

c.C1474T

p.R492X

37.0

8.299E-6

Li2017 T

COL28A1

1-0985-003

chr7:
7397936-7397936

A

G

downstream

De novo

-

Yuen2017 G

COL28A1

3-0270-000

chr7:
7514248-7514248

G

C

exonic

De novo

stopgain

NM_001037763

c.C1286G

p.S429X

39.0

-

Tammimies2015 E

COL28A1

DEASD_1045_001

chr7:
7516858-7516858

G

C

intronic

De novo

-

Satterstrom2020 E

COL28A1

1-0079-008

chr7:
7459577-7459577

G

A

exonic

De novo

nonsynonymous SNV

NM_001037763

c.C2006T

p.P669L

14.33

-

Yuen2017 G

COL28A1

3909_17au

chr7:
7559712-7559712

C

T

exonic

De novo

nonsynonymous SNV

NM_001037763

c.G794A

p.R265Q

15.45

-

Fu2022 E

COL28A1

1-0433-004

chr7:
7467933-7467933

C

T

intronic

De novo

-

Yuen2017 G

COL28A1

A09006-2

chr7:
7477024-7477024

C

A

splicing

Unknown

splicing

15.65

-

Li2017 T

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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