Variant Results

or

Results for "TBX3"

Variant Events: 95

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

TBX3

2-1155-003

chr12:
115381689-115381689

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TBX3

2-1477-003

chr12:
116184710-116184710

C

T

intergenic

De novo

-

Yuen2017 G

TBX3

1-0158-012

chr12:
116279108-116279108

T

C

intergenic

De novo

-

Yuen2017 G

TBX3

1-0303-004

chr12:
115035000-115035000

C

T

intergenic

De novo

-

Yuen2017 G

TBX3

AU3716302

chr12:
115163096-115163096

T

A

intergenic

De novo

-

Yuen2017 G

TBX3

AU4343302

chr12:
115063240-115063240

T

C

intergenic

De novo

-

Yuen2017 G

TBX3

1-0113-003

chr12:
115982340-115982340

C

T

intergenic

De novo

-

Yuen2016 G

TBX3

2-1086-004

chr12:
116358997-116358997

A

G

intergenic

De novo

-

Yuen2017 G

TBX3

5-0077-003

chr12:
115494938-115494938

G

A

intergenic

De novo

-

Yuen2017 G

TBX3

1-0321-004

chr12:
114895837-114895837

T

TATTAAGCAC

intergenic

De novo

-

Yuen2017 G

TBX3

AU4462302

chr12:
115843850-115843850

G

A

intergenic

De novo

-

Yuen2017 G

TBX3

2-1505-003

chr12:
116280094-116280094

T

TGAGGCA

intergenic

De novo

-

Yuen2017 G

TBX3

1-0022-004

chr12:
115923461-115923474

GGTGTGTGTGTGTG

GGTGTGTGTGTG

intergenic

De novo

-

Yuen2017 G

TBX3

7-0106-003

chr12:
115621036-115621036

C

T

intergenic

De novo

-

Yuen2017 G

TBX3

AU060403

chr12:
115621375-115621375

G

A

intergenic

De novo

-

Yuen2017 G

TBX3

AU1687303

chr12:
115727326-115727326

A

T

intergenic

De novo

-

Yuen2017 G

TBX3

2-1283-003

chr12:
115677597-115677597

C

G

intergenic

De novo

-

Yuen2017 G

TBX3

AU4015302

chr12:
115886573-115886573

A

G

intergenic

De novo

-

Yuen2017 G

TBX3

2-1182-003

chr12:
115923461-115923474

GGTGTGTGTGTGTG

GGTGTGTGTGTG

intergenic

De novo

-

Yuen2017 G

TBX3

AU4013302

chr12:
115376401-115376401

C

T

intergenic

De novo

-

Yuen2017 G

TBX3

A28

chr12:
116058418-116058418

G

A

intergenic

De novo

-

Wu2018 G

TBX3

13946.p1

chr12:
115972753-115972753

T

C

intergenic

De novo

-

Turner2016 G

TBX3

AU4079302

chr12:
115123205-115123205

G

A

intergenic

De novo

-

Yuen2017 G

TBX3

1-0579-003

chr12:
116002087-116002087

T

C

intergenic

De novo

-

Yuen2017 G

TBX3

2-1359-003

chr12:
116313697-116313697

C

T

intergenic

De novo

-

Yuen2017 G

TBX3

2-1577-003

chr12:
115247112-115247112

G

A

intergenic

De novo

-

Yuen2017 G

TBX3

AU2988302

chr12:
115913448-115913448

C

T

intergenic

De novo

-

Yuen2017 G

TBX3

A12

chr12:
116114170-116114170

G

A

intergenic

De novo

-

Wu2018 G

TBX3

1-0208-003

chr12:
115153694-115153694

A

G

intergenic

De novo

-

Yuen2017 G

TBX3

1-0368-004

chr12:
115347134-115347134

G

C

intergenic

De novo

-

Yuen2017 G

TBX3

AU4215302

chr12:
115704306-115704310

ATTTT

ATTTTT

intergenic

De novo

-

Yuen2017 G

TBX3

1-0835-003

chr12:
116033981-116033981

G

T

intergenic

De novo

-

Yuen2017 G

TBX3

2-1425-004

chr12:
115399518-115399542

TTCCATTATCCCACCTGGCAGCTGC

T

intergenic

De novo

-

Yuen2017 G

TBX3

1-0826-003

chr12:
116108146-116108146

A

G

intergenic

De novo

-

Yuen2017 G

TBX3

1-0289-004

chr12:
116029309-116029309

G

A

intergenic

De novo

-

Yuen2017 G

TBX3

1-0289-004

chr12:
115543523-115543523

C

T

intergenic

De novo

-

Yuen2017 G

TBX3

AU1687302

chr12:
115727326-115727326

A

T

intergenic

De novo

-

Yuen2017 G

TBX3

2-1066-004

chr12:
114853546-114853546

C

T

intergenic

De novo

-

Yuen2017 G

TBX3

1-0059-003

chr12:
114874523-114874523

G

T

intergenic

De novo

-

Yuen2017 G

TBX3

1-0484-003

chr12:
115400420-115400432

CAAAGTGATTCTT

C

intergenic

De novo

-

Yuen2017 G

TBX3

AU4286302

chr12:
115321728-115321728

A

G

intergenic

De novo

-

Yuen2017 G

TBX3

2-1168-003

chr12:
114874840-114874840

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TBX3

AU2569303

chr12:
116358477-116358477

A

G

intergenic

De novo

-

Yuen2017 G

TBX3

7-0167-003

chr12:
114908730-114908730

G

C

intergenic

De novo

-

Yuen2017 G

TBX3

1-0706-003

chr12:
115011319-115011319

T

C

intergenic

De novo

-

Yuen2017 G

TBX3

13825.p1

chr12:
115878431-115878431

G

C

intergenic

De novo

-

Wilfert2021 G

TBX3

2-1237-003

chr12:
114928883-114928883

G

C

intergenic

De novo

-

Yuen2017 G

TBX3

AU3052303

chr12:
116099437-116099437

A

G

intergenic

De novo

-

Yuen2017 G

TBX3

1-0559-003

chr12:
115593715-115593715

A

G

intergenic

De novo

-

Yuen2017 G

TBX3

1-0160-004

chr12:
115314783-115314783

T

C

intergenic

De novo

-

Yuen2017 G

TBX3

1-0233-004

chr12:
115890094-115890096

AGT

A

intergenic

De novo

-

Yuen2017 G

TBX3

2-1250-003

chr12:
115124225-115124225

A

AAG

intergenic

De novo

-

Yuen2017 G

TBX3

2-1153-003

chr12:
115261200-115261200

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TBX3

2-1358-003

chr12:
115802471-115802471

G

A

intergenic

De novo

-

Yuen2017 G

TBX3

2-1291-003

chr12:
114897679-114897679

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TBX3

2-0068-003

chr12:
115613786-115613794

GTGTGCGTA

G

intergenic

De novo

-

Yuen2017 G

TBX3

7-0058-003

chr12:
116177030-116177030

T

C

intergenic

De novo

-

Yuen2017 G

TBX3

2-1505-004

chr12:
116280094-116280094

T

TGAGGCA

intergenic

De novo

-

Yuen2017 G

TBX3

1-0214-003

chr12:
115509019-115509019

C

T

intergenic

De novo

-

Yuen2017 G

TBX3

2-1506-003

chr12:
115065941-115065958

ATGTGTGTGTGTGTGTGT

ATGTGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

TBX3

7-0160-003

chr12:
115025819-115025819

A

G

intergenic

De novo

-

Yuen2017 G

TBX3

7-0160-003

chr12:
116345457-116345457

A

G

intergenic

De novo

-

Yuen2017 G

TBX3

AU4243302

chr12:
116340419-116340419

A

G

intergenic

De novo

-

Yuen2017 G

TBX3

AU3517301

chr12:
115335751-115335751

G

A

intergenic

De novo

-

Yuen2017 G

TBX3

1-0052-003

chr12:
116029275-116029275

A

C

intergenic

De novo

-

Yuen2017 G

TBX3

5-0088-003

chr12:
115928452-115928452

G

A

intergenic

De novo

-

Yuen2017 G

TBX3

7-0166-003

chr12:
115952179-115952179

A

G

intergenic

De novo

-

Yuen2017 G

TBX3

1-0052-003

chr12:
115800462-115800462

G

A

intergenic

De novo

-

Yuen2017 G

TBX3

5-0026-003

chr12:
115221899-115221899

T

C

intergenic

De novo

-

Yuen2017 G

TBX3

AU4067303

chr12:
115267321-115267321

T

C

intergenic

De novo

-

Yuen2017 G

TBX3

1-0052-003

chr12:
115222978-115222978

T

G

intergenic

De novo

-

Yuen2017 G

TBX3

5-0026-003

chr12:
116015889-116015891

AAG

A

intergenic

De novo

-

Yuen2017 G

TBX3

AU4237301

chr12:
115585408-115585408

C

G

intergenic

De novo

-

Yuen2017 G

TBX3

2-1567-003

chr12:
115342406-115342408

ATG

A

intergenic

De novo

-

Yuen2017 G

TBX3

2-1436-003

chr12:
116077193-116077193

C

T

intergenic

De novo

-

Yuen2017 G

TBX3

AU4122301

chr12:
115624663-115624663

A

G

intergenic

De novo

-

Yuen2017 G

TBX3

2-0003-003

chr12:
115165085-115165085

C

T

intergenic

De novo

-

Yuen2017 G

TBX3

5-0088-003

chr12:
115291405-115291405

T

C

intergenic

De novo

-

Yuen2017 G

TBX3

AU1940304

chr12:
114947551-114947551

G

A

intergenic

De novo

-

Yuen2017 G

TBX3

2-1066-003

chr12:
116212909-116212909

T

C

intergenic

De novo

-

Yuen2017 G

TBX3

1-0455-004

chr12:
115895367-115895367

T

G

intergenic

De novo

-

Yuen2017 G

TBX3

2-1283-004

chr12:
115677597-115677597

C

G

intergenic

De novo

-

Yuen2017 G

TBX3

AU4237304

chr12:
115080560-115080560

G

A

intergenic

De novo

-

Yuen2017 G

TBX3

1-0142-005

chr12:
114883470-114883470

C

T

intergenic

De novo

-

Yuen2017 G

TBX3

7-0188-003

chr12:
115711259-115711259

G

C

intergenic

De novo

-

Yuen2017 G

TBX3

AU0039303

chr12:
115051114-115051114

C

A

intergenic

De novo

-

Yuen2017 G

TBX3

AU2988303

chr12:
115913448-115913448

C

T

intergenic

De novo

-

Yuen2017 G

TBX3

1-0546-003

chr12:
115709580-115709580

C

T

intergenic

De novo

-

Yuen2017 G

TBX3

2-1365-003

chr12:
115267305-115267305

C

T

intergenic

De novo

-

Yuen2017 G

TBX3

AU030804

chr12:
115721707-115721707

C

T

intergenic

De novo

-

Yuen2017 G

TBX3

1-0433-003

chr12:
116362336-116362339

AGAG

A

intergenic

De novo

-

Yuen2017 G

TBX3

1-0206-004

chr12:
115127228-115127228

G

GAGCTGCAAGTTA

intergenic

De novo

-

Yuen2017 G

TBX3

1-0453-003

chr12:
115324320-115324320

T

C

intergenic

De novo

-

Yuen2017 G

TBX3

1-0582-003

chr12:
115339602-115339602

G

A

intergenic

De novo

-

Yuen2017 G

TBX3

1-0756-005

chr12:
116009769-116009769

A

G

intergenic

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
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