Variant Results

or

Results for "COL11A1"

Variant Events: 44

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

COL11A1

AU076508

chr1:
103921414-103921414

C

G

intergenic

De novo

-

Yuen2017 G

COL11A1

2-1730-003

chr1:
103681664-103681664

G

C

intergenic

De novo

-

Yuen2017 G

COL11A1

5-0146-003

chr1:
103759283-103759283

C

G

intergenic

De novo

-

Yuen2017 G

COL11A1

2-1352-003

chr1:
103410394-103410394

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

COL11A1

1-0248-003

chr1:
103704351-103704351

T

C

intergenic

De novo

-

Yuen2017 G

COL11A1

SSC00934

chr1:
103574345-103574345

C

T

upstream

-

Antaki2022 GE

COL11A1

A2

chr1:
103489214-103489214

G

A

intronic

De novo

-

Wu2018 G

COL11A1

SSC02402

chr1:
103380293-103380293

C

T

exonic

De novo

synonymous SNV

NM_080630
NM_001190709
NM_001854
NM_080629

c.G3543A
c.G3774A
c.G3891A
c.G3927A

p.G1181G
p.G1258G
p.G1297G
p.G1309G

-

3.409E-5

Fu2022 E
Lim2017 E
Trost2022 G

COL11A1

AU3858303

chr1:
103923798-103923798

A

T

intergenic

De novo

-

Yuen2017 G

COL11A1

2-0098-003

chr1:
103663630-103663630

C

T

intergenic

De novo

-

Yuen2017 G

COL11A1

ASC_11518-1

chr1:
103428251-103428251

A

ACCAGGAGGG

exonic

De novo

nonframeshift insertion

NM_080630
NM_001190709
NM_001854
NM_080629

c.2633_2634insCCCTCCTGG
c.2864_2865insCCCTCCTGG
c.2981_2982insCCCTCCTGG
c.3017_3018insCCCTCCTGG

p.G878delinsGPPG
p.G955delinsGPPG
p.G994delinsGPPG
p.G1006delinsGPPG

-

Fu2022 E

COL11A1

14060.p1

chr1:
103345183-103345183

C

T

intronic

Mosaic

-

Dou2017 E

COL11A1

7-0256-003

chr1:
103686557-103686557

T

C

intergenic

De novo

-

Yuen2017 G

COL11A1

13543.p1

chr1:
103482923-103482923

A

T

intronic

De novo

-

Turner2016 G

COL11A1

11456.p1

chr1:
103757135-103757135

T

G

intergenic

De novo

-

Turner2016 G

COL11A1

7-0249-004

chr1:
103733824-103733824

A

T

intergenic

De novo

-

Yuen2017 G

COL11A1

3-0374-000

chr1:
103359842-103359842

C

A

intronic

De novo

-

Trost2022 G

COL11A1

SP0194582

chr1:
103345315-103345315

C

T

exonic

De novo

nonsynonymous SNV

NM_080630
NM_001190709
NM_001854
NM_080629

c.G4850A
c.G5081A
c.G5198A
c.G5234A

p.R1617H
p.R1694H
p.R1733H
p.R1745H

22.7

4.0E-4

Trost2022 G

COL11A1

7-0273-003

chr1:
103483431-103483431

A

G

exonic

De novo

nonsynonymous SNV

NM_080630
NM_001190709
NM_001854
NM_080629

c.T1010C
c.T1241C
c.T1358C
c.T1394C

p.M337T
p.M414T
p.M453T
p.M465T

7.824

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

COL11A1

5-0088-003

chr1:
103533351-103533351

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL11A1

1352011

chr1:
103380396-103380396

G

A

intronic

De novo

-

9.923E-5

Satterstrom2020 E
Trost2022 G

COL11A1

MSSNG00040-004

chr1:
103438649-103438649

A

G

intronic

De novo

-

Trost2022 G

COL11A1

3-0052-000

chr1:
103431829-103431829

C

T

intronic

De novo

-

Trost2022 G

COL11A1

MSSNG00370-003

chr1:
103492276-103492276

A

G

intronic

De novo

-

Trost2022 G

COL11A1

MSSNG00204-003

chr1:
103463587-103463587

G

A

intronic

De novo

-

Trost2022 G

COL11A1

SP0086270

chr1:
103380392-103380393

AG

A

intronic

De novo

-

0.0022

Trost2022 G

COL11A1

AU2310301

chr1:
103364442-103364442

T

G

intronic

De novo

-

Trost2022 G

COL11A1

2-1696-003

chr1:
103513929-103513929

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL11A1

10-1127-003A

chr1:
103392970-103392970

T

TA

intronic

De novo

-

Trost2022 G

COL11A1

5-0020-003

chr1:
103385950-103385950

C

T

intronic

De novo

-

Trost2022 G

COL11A1

AU0540302

chr1:
103522794-103522794

A

T

intronic

De novo

-

Trost2022 G

COL11A1

2-1487-003

chr1:
103379706-103379706

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL11A1

REACH000529

chr1:
103513618-103513618

C

A

intronic

De novo

-

Trost2022 G

COL11A1

SP0147261

chr1:
103461556-103461556

G

A

exonic

De novo

nonsynonymous SNV

NM_080630
NM_001190709
NM_001854
NM_080629

c.C1936T
c.C2167T
c.C2284T
c.C2320T

p.R646W
p.R723W
p.R762W
p.R774W

19.89

2.506E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

COL11A1

2-0102-003

chr1:
103567535-103567535

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL11A1

2-1090-003

chr1:
103508668-103508668

C

A

intronic

De novo

-

Trost2022 G

COL11A1

3-0102-000

chr1:
103498065-103498065

C

T

intronic

De novo

-

Trost2022 G

COL11A1

AU4188302

chr1:
103508668-103508668

C

A

intronic

De novo

-

Trost2022 G

COL11A1

3-0178-000

chr1:
103508668-103508668

C

A

intronic

De novo

-

Trost2022 G

COL11A1

13227.p1

chr1:
103444626-103444626

C

T

exonic

Mosaic

nonsynonymous SNV

NM_080630
NM_001190709
NM_001854
NM_080629

c.G2297A
c.G2528A
c.G2645A
c.G2681A

p.R766H
p.R843H
p.R882H
p.R894H

29.0

8.288E-6

Dou2017 E

COL11A1

11552.p1

chr1:
103380293-103380293

C

T

exonic

De novo

synonymous SNV

NM_080630
NM_001190709
NM_001854
NM_080629

c.G3543A
c.G3774A
c.G3891A
c.G3927A

p.G1181G
p.G1258G
p.G1297G
p.G1309G

-

3.409E-5

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

COL11A1

1-0508-003

chr1:
103389112-103389112

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL11A1

SP0051150

chr1:
103444915-103444915

C

G

intronic

De novo

-

Fu2022 E

COL11A1

mAGRE4953

chr1:
103427749-103427749

C

T

exonic

De novo

nonsynonymous SNV

NM_080630
NM_001190709
NM_001854
NM_080629

c.G2749A
c.G2980A
c.G3097A
c.G3133A

p.G917S
p.G994S
p.G1033S
p.G1045S

23.5

-

Cirnigliaro2023 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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