Variant Results

or

Results for "COL22A1"

Variant Events: 79

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

COL22A1

2-0135-004

chr8:
140476712-140476712

G

T

intergenic

De novo

-

Yuen2017 G

COL22A1

AU3727302

chr8:
140387996-140387996

G

A

intergenic

De novo

-

Yuen2017 G

COL22A1

1-0567-004

chr8:
140491239-140491239

C

T

intergenic

De novo

-

Yuen2017 G

COL22A1

AU063005

chr8:
139890908-139890908

A

T

intronic

De novo

-

Yuen2017 G

COL22A1

TAS_F0203Y

chr8:
139675969-139675969

T

G

exonic

De novo

synonymous SNV

NM_152888

c.A3165C

p.P1055P

-

Fu2022 E
Satterstrom2020 E

COL22A1

2-1174-005B

chr8:
140224599-140224599

A

C

intergenic

De novo

-

Yuen2017 G

COL22A1

1-0007-003

chr8:
140445407-140445407

A

C

intergenic

De novo

-

Yuen2017 G

COL22A1

1-0272-003

chr8:
139673330-139673330

A

C

intronic

De novo

-

Yuen2017 G

COL22A1

1-0482-003

chr8:
140212355-140212355

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

COL22A1

AU031403

chr8:
139935224-139935224

G

A

intergenic

De novo

-

Yuen2017 G

COL22A1

2-1510-003

chr8:
140298982-140298982

G

A

intergenic

De novo

-

Yuen2017 G

COL22A1

AU3634301

chr8:
139659993-139659999

AACATCA

AA

intronic

De novo

-

Yuen2017 G

COL22A1

1-0196-005

chr8:
139942638-139942638

A

G

intergenic

De novo

-

Yuen2017 G

COL22A1

1-0564-003

chr8:
140596933-140596933

A

G

intergenic

De novo

-

Yuen2017 G

COL22A1

SP0151015

chr8:
139609185-139609185

C

T

exonic

De novo

nonsynonymous SNV

NM_152888

c.G4394A

p.R1465H

20.6

9.892E-5

Fu2022 E

COL22A1

AU066404

chr8:
139867957-139867957

T

A

intronic

De novo

-

Yuen2017 G

COL22A1

2-0240-004

chr8:
140240605-140240605

C

T

intergenic

De novo

-

Yuen2017 G

COL22A1

2-1737-003

chr8:
140546175-140546175

A

G

intergenic

De novo

-

Yuen2017 G

COL22A1

AU056803

chr8:
139968717-139968717

G

A

intergenic

De novo

-

Yuen2017 G

COL22A1

5-0054-003

chr8:
140523164-140523164

C

T

intergenic

De novo

-

Yuen2017 G

COL22A1

SP0040276

chr8:
139736814-139736814

G

C

intronic

De novo

-

Fu2022 E

COL22A1

SP0136825

chr8:
139606486-139606553

TGGACATAGGACAGGATGGCTACTCACTGACAACTCAGAACCAGGGGGCCGATAATAGCTGCAGAAAC

T

intronic

De novo

-

Fu2022 E

COL22A1

SP0114697

chr8:
139772404-139772404

T

A

intronic

De novo

-

Fu2022 E

COL22A1

2-0270-004

chr8:
140470414-140470414

G

T

intergenic

De novo

-

Yuen2017 G

COL22A1

AU3862305

chr8:
140066284-140066284

G

A

intergenic

De novo

-

Yuen2017 G

COL22A1

11513.p1

chr8:
139791749-139791749

C

T

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E

COL22A1

AU2433303

chr8:
139804059-139804059

C

A

intronic

De novo

-

Yuen2017 G

COL22A1

1-0339-003

chr8:
139818516-139818516

A

ATGGTGTAGGTAATGGTGTGTGGTGGTGTATGTGTGT

intronic

De novo

-

Yuen2017 G

COL22A1

1-0965-003

chr8:
140491676-140491676

T

G

intergenic

De novo

-

Yuen2017 G

COL22A1

A4

chr8:
139639197-139639197

A

G

intronic

De novo

-

Wu2018 G

COL22A1

AU4173301

chr8:
140422777-140422777

A

T

intergenic

De novo

-

Yuen2017 G

COL22A1

1-0706-003

chr8:
140577739-140577739

G

A

intergenic

De novo

-

Yuen2017 G

COL22A1

2-0127-004

chr8:
140054558-140054558

A

T

intergenic

De novo

-

Yuen2017 G

COL22A1

AU3777301

chr8:
140516785-140516785

C

T

intergenic

De novo

-

Yuen2017 G

COL22A1

AU4359301

chr8:
140404710-140404710

C

T

intergenic

De novo

-

Yuen2017 G

COL22A1

2-1280-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

COL22A1

Cukier2014:7623

chr8:
139815174-139815174

C

G

exonic

Unknown

nonsynonymous SNV

NM_152888

c.G1498C

p.D500H

15.83

7.0E-4

Cukier2014 E

COL22A1

1-0271-003

chr8:
140019455-140019455

C

G

intergenic

De novo

-

Yuen2017 G

COL22A1

2-1094-005

chr8:
140158352-140158352

G

A

intergenic

De novo

-

Yuen2017 G

COL22A1

1-0413-003

chr8:
140128713-140128713

G

A

intergenic

De novo

-

Yuen2017 G

COL22A1

2-1341-004

chr8:
139818535-139818535

G

GTGTT

intronic

De novo

-

Yuen2017 G

COL22A1

1-0382-003

chr8:
140599034-140599034

C

G

intergenic

De novo

-

Yuen2017 G

COL22A1

1-0382-003

chr8:
140448698-140448698

G

A

intergenic

De novo

-

Yuen2017 G

COL22A1

1-0054-004

chr8:
139992872-139992872

G

C

intergenic

De novo

-

Yuen2017 G

COL22A1

1-0257-003

chr8:
140615151-140615151

G

A

intergenic

De novo

-

Yuen2017 G

COL22A1

1-0460-003

chr8:
140395060-140395060

G

C

intergenic

De novo

-

Yuen2017 G

COL22A1

1-0054-004

chr8:
139986753-139986753

G

C

intergenic

De novo

-

Yuen2017 G

COL22A1

1-0447-003

chr8:
140525362-140525362

T

C

intergenic

De novo

-

Yuen2017 G

COL22A1

1-0052-003

chr8:
139625722-139625722

C

T

intronic

De novo

-

Yuen2017 G

COL22A1

2-0503-004

chr8:
140196079-140196079

T

C

intergenic

De novo

-

Yuen2017 G

COL22A1

2-0503-004

chr8:
139831518-139831518

T

C

intronic

De novo

-

Yuen2017 G

COL22A1

AU3912303

chr8:
140020133-140020133

G

T

intergenic

De novo

-

Yuen2017 G

COL22A1

2-1382-003

chr8:
140149883-140149883

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

COL22A1

1-0277-003

chr8:
140591085-140591085

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

COL22A1

1-0294-003

chr8:
139828300-139828300

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

COL22A1

5-0105-003

chr8:
139679615-139679615

G

A

intronic

De novo

-

Yuen2017 G

COL22A1

2-0149-004

chr8:
139949681-139949681

G

A

intergenic

De novo

-

Yuen2017 G

COL22A1

1-0558-003

chr8:
139827155-139827155

C

G

intronic

De novo

-

Yuen2017 G

COL22A1

2-1416-004

chr8:
140224599-140224599

A

C

intergenic

De novo

-

Yuen2017 G

COL22A1

1-0514-003

chr8:
140590545-140590545

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

COL22A1

1-0354-003

chr8:
139999811-139999821

TCACAATACTC

T

intergenic

De novo

-

Yuen2017 G

COL22A1

AU1542301

chr8:
140103461-140103461

C

G

intergenic

De novo

-

Yuen2017 G

COL22A1

AU050910

chr8:
139981740-139981740

T

C

intergenic

De novo

-

Yuen2017 G

COL22A1

1-0632-003

chr8:
140224599-140224599

A

C

intergenic

De novo

-

Yuen2017 G

COL22A1

7-0219-003

chr8:
140174517-140174517

T

G

intergenic

De novo

-

Yuen2017 G

COL22A1

AU4378301

chr8:
139941181-139941181

C

T

intergenic

De novo

-

Yuen2017 G

COL22A1

2-1143-003

chr8:
140242707-140242707

G

A

intergenic

De novo

-

Yuen2017 G

COL22A1

AU1725302

chr8:
140490621-140490621

G

A

intergenic

De novo

-

Yuen2017 G

COL22A1

2-0503-003

chr8:
140196079-140196079

T

C

intergenic

De novo

-

Yuen2017 G

COL22A1

2-0503-003

chr8:
139831518-139831518

T

C

intronic

De novo

-

Yuen2017 G

COL22A1

1-0225-003

chr8:
140580680-140580680

G

A

intergenic

De novo

-

Yuen2017 G

COL22A1

1-0715-003

chr8:
140627520-140627520

G

A

intergenic

De novo

-

Yuen2017 G

COL22A1

1-0401-003

chr8:
140609262-140609262

T

TTG

intergenic

De novo

-

Yuen2017 G

COL22A1

2-1105-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

COL22A1

AU031404

chr8:
139944689-139944689

A

C

intergenic

De novo

-

Yuen2017 G

COL22A1

AU056204

chr8:
140614183-140614183

C

T

intergenic

De novo

-

Yuen2017 G

COL22A1

2-1114-003

chr8:
139997723-139997723

A

G

intergenic

De novo

-

Yuen2017 G

COL22A1

2-1154-003

chr8:
139603867-139603867

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

COL22A1

AU066104

chr8:
139715492-139715492

G

A

intronic

De novo

-

Yuen2017 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
	More