Variant Results

or

Results for "COL6A3"

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

COL6A3

2-0299-005

chr2:
238312260-238312260

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL6A3

AU038703

chr2:
238364540-238364540

G

A

intergenic

De novo

-

Yuen2017 G

COL6A3

Cukier2014:17478

chr2:
238271991-238271991

G

A

exonic

Unknown

nonsynonymous SNV

NM_057166
NM_057167
NM_004369

c.C4147T
c.C5350T
c.C5968T

p.R1383W
p.R1784W
p.R1990W

6.614

0.0012

Cukier2014 E

COL6A3

SP0038530

chr2:
238270522-238270522

A

AGCAGAAAATCATAAAT

intronic

De novo

-

Fu2022 E

COL6A3

1-1039-003

chr2:
238304799-238304799

A

C

intronic

De novo

-

Trost2022 G

COL6A3

SP0021846

chr2:
238258844-238258844

G

A

exonic

De novo

synonymous SNV

NM_057166
NM_057167
NM_004369

c.C5004T
c.C6207T
c.C6825T

p.P1668P
p.P2069P
p.P2275P

-

1.0E-4

Fu2022 E
Trost2022 G
Zhou2022 GE

COL6A3

1-0700-003A

chr2:
238308096-238308096

A

G

intronic

De novo

-

Trost2022 G

COL6A3

1-0955-003

chr2:
238268579-238268580

TG

T

intronic

De novo

-

Trost2022 G

COL6A3

Cukier2014:18074

chr2:
238253016-238253016

G

A

exonic

Unknown

nonsynonymous SNV

NM_057166
NM_057167
NM_004369

c.C5824T
c.C7027T
c.C7645T

p.R1942W
p.R2343W
p.R2549W

10.19

0.0027

Cukier2014 E

COL6A3

MT_69.3

chr2:
238289039-238289039

G

T

intronic

De novo

-

Trost2022 G

COL6A3

5903

chr2:
238243325-238243325

A

C

exonic

De novo

nonsynonymous SNV

NM_057166
NM_057167
NM_004369

c.T7352G
c.T8555G
c.T9173G

p.V2451G
p.V2852G
p.V3058G

9.583

1.0E-4

Trost2022 G

COL6A3

SSC01123

chr2:
238266577-238266577

T

C

intronic

De novo

-

Trost2022 G

COL6A3

SP0047603

chr2:
238296531-238296531

G

A

exonic

De novo

nonsynonymous SNV

NM_057165
NM_057167
NM_004369

c.C388T
c.C388T
c.C1006T

p.R130W
p.R130W
p.R336W

14.72

4.153E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

COL6A3

MSSNG00019-004A

chr2:
238234457-238234457

T

G

intronic

De novo

-

Trost2022 G

COL6A3

7-0371-004

chr2:
238234950-238234950

A

G

intronic

De novo

-

Trost2022 G

COL6A3

2-1192-003

chr2:
238317340-238317341

TT

GA

intronic

De novo

-

Trost2022 G

COL6A3

1-0377-003

chr2:
238246489-238246489

C

T

intronic

De novo

-

Yuen2017 G

COL6A3

11969.p1

chr2:
238243325-238243325

A

C

exonic

De novo

nonsynonymous SNV

NM_057166
NM_057167
NM_004369

c.T7352G
c.T8555G
c.T9173G

p.V2451G
p.V2852G
p.V3058G

9.583

1.0E-4

Satterstrom2020 E

COL6A3

AU065304

chr2:
238280537-238280537

G

T

exonic

De novo

nonsynonymous SNV

NM_057166
NM_057164
NM_057165
NM_057167
NM_004369

c.C2302A
c.C2902A
c.C3505A
c.C3505A
c.C4123A

p.Q768K
p.Q968K
p.Q1169K
p.Q1169K
p.Q1375K

0.939

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

COL6A3

11024.p1

chr2:
238266577-238266577

T

C

intronic

De novo

-

Satterstrom2020 E

COL6A3

1-0775-003

chr2:
238274435-238274435

C

T

exonic

De novo

nonsynonymous SNV

NM_057166
NM_057167
NM_004369

c.G3923A
c.G5126A
c.G5744A

p.R1308Q
p.R1709Q
p.R1915Q

10.59

7.415E-5

Trost2022 G
Zhou2022 GE

COL6A3

AU061003

chr2:
238262034-238262034

C

T

exonic

De novo

nonsynonymous SNV

NM_057166
NM_057167
NM_004369

c.G4819A
c.G6022A
c.G6640A

p.G1607S
p.G2008S
p.G2214S

4.584

4.134E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

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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