Variant Results

or

Results for "FHIT"

Variant Events: 105

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

FHIT

2-1411-003

chr3:
60324540-60324540

C

T

intronic

De novo

-

Yuen2017 G

FHIT

AU3763305

chr3:
61296964-61296964

T

C

intergenic

De novo

-

Yuen2017 G

FHIT

AU3053301

chr3:
59978770-59978770

G

T

intronic

De novo

-

Yuen2017 G

FHIT

1-0045-003

chr3:
59861684-59861684

A

AAAAAAAAAAAG

intronic

De novo

-

Yuen2017 G

FHIT

2-1180-003

chr3:
60355462-60355462

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

FHIT

7-0023-003

chr3:
60761863-60761863

C

T

intronic

De novo

-

Yuen2017 G

FHIT

AU4473301

chr3:
60382326-60382326

A

G

intronic

De novo

-

Yuen2017 G

FHIT

1-0495-003

chr3:
61485971-61485971

T

C

intergenic

De novo

-

Yuen2017 G

FHIT

AU2863303

chr3:
60991228-60991228

C

T

intronic

De novo

-

Yuen2017 G

FHIT

1-0440-003

chr3:
60042153-60042153

C

T

intronic

De novo

-

Yuen2017 G

FHIT

AU3636301

chr3:
61434344-61434344

G

A

intergenic

De novo

-

Yuen2017 G

FHIT

AU3765303

chr3:
60018564-60018564

C

T

intronic

De novo

-

Yuen2017 G

FHIT

2-0158-003

chr3:
59972158-59972158

C

T

intronic

De novo

-

Yuen2017 G

FHIT

2-0296-003

chr3:
60888508-60888508

G

C

intronic

De novo

-

Yuen2017 G

FHIT

2-1581-003

chr3:
59779753-59779753

C

G

intronic

De novo

-

Yuen2017 G

FHIT

1-0433-004

chr3:
61154232-61154232

G

A

intronic

De novo

-

Yuen2017 G

FHIT

1-0556-003

chr3:
61230830-61230830

G

T

intronic

De novo

-

Yuen2017 G

FHIT

AU002903

chr3:
60205070-60205070

A

G

intronic

De novo

-

Yuen2017 G

FHIT

2-1436-003

chr3:
60816072-60816072

C

T

intronic

De novo

-

Yuen2017 G

FHIT

2-1501-003

chr3:
59986176-59986176

C

G

intronic

De novo

-

Yuen2017 G

FHIT

AU3866301

chr3:
59888192-59888192

C

T

intronic

De novo

-

Yuen2017 G

FHIT

1-0479-006

chr3:
61317281-61317293

GAGGTAACACTTA

G

intergenic

De novo

-

Yuen2017 G

FHIT

A14

chr3:
60559429-60559429

G

A

intronic

De novo

-

Wu2018 G

FHIT

1-0191-004

chr3:
60336731-60336731

G

A

intronic

De novo

-

Yuen2017 G

FHIT

AU076705

chr3:
61181753-61181753

A

G

intronic

De novo

-

Yuen2017 G

FHIT

AU4231301

chr3:
61349605-61349605

T

G

intergenic

De novo

-

Yuen2017 G

FHIT

1-0541-004

chr3:
59894692-59894692

C

A

intronic

De novo

-

Yuen2017 G

FHIT

1-0534-003

chr3:
61121910-61121910

C

T

intronic

De novo

-

Yuen2017 G

FHIT

AU030804

chr3:
60294490-60294490

A

T

intronic

De novo

-

Yuen2017 G

FHIT

AU030804

chr3:
61473139-61473139

G

A

intergenic

De novo

-

Yuen2017 G

FHIT

2-1408-003

chr3:
60905515-60905515

G

A

intronic

De novo

-

Yuen2017 G

FHIT

2-1178-003

chr3:
60553738-60553738

G

T

intronic

De novo

-

Yuen2017 G

FHIT

AU021204

chr3:
59843700-59843700

A

C

intronic

De novo

-

Yuen2017 G

FHIT

AU021204

chr3:
59955529-59955529

A

T

intronic

De novo

-

Yuen2017 G

FHIT

AU3888302

chr3:
60051296-60051296

T

G

intronic

De novo

-

Yuen2017 G

FHIT

AU3912302

chr3:
59994333-59994333

C

G

intronic

De novo

-

Yuen2017 G

FHIT

1-1000-003

chr3:
61393733-61393758

AAGAGAGAGAGAGACAGAGAGAGAGA

AAGAGAGAGAGACAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

FHIT

AU3398301

chr3:
60409808-60409808

A

C

intronic

De novo

-

Yuen2017 G

FHIT

1-0485-003

chr3:
60951778-60951778

C

T

intronic

De novo

-

Yuen2017 G

FHIT

2-1129-003

chr3:
60990700-60990700

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

FHIT

5-0033-004

chr3:
60015229-60015229

C

G

intronic

De novo

-

Yuen2017 G

FHIT

1-0906-003

chr3:
60305468-60305468

T

G

intronic

De novo

-

Yuen2017 G

FHIT

2-1353-003

chr3:
60213489-60213489

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

FHIT

AU054103

chr3:
60062810-60062810

A

G

intronic

De novo

-

Yuen2017 G

FHIT

2-0238-003

chr3:
60470414-60470414

A

ATACAAAAATTAACTC

intronic

De novo

-

Yuen2017 G

FHIT

2-0264-004

chr3:
60216665-60216665

T

C

intronic

De novo

-

Yuen2017 G

FHIT

2-1577-003

chr3:
60450547-60450547

A

G

intronic

De novo

-

Yuen2017 G

FHIT

AU2410302

chr3:
59819775-59819775

G

A

intronic

De novo

-

Yuen2017 G

FHIT

13843.p1

chr3:
60446809-60446809

A

AAATACTCTT

intronic

Maternal

-

Wilfert2021 G

FHIT

7-0161-003

chr3:
60472164-60472164

T

C

intronic

De novo

-

Yuen2017 G

FHIT

AU2787301

chr3:
60927795-60927795

T

C

intronic

De novo

-

Yuen2017 G

FHIT

2-1213-003

chr3:
59837468-59837468

C

A

intronic

De novo

-

Yuen2017 G

FHIT

5-0140-003

chr3:
60451623-60451623

A

C

intronic

De novo

-

Yuen2017 G

FHIT

1-0683-004

chr3:
60221939-60221939

A

C

intronic

De novo

-

Yuen2017 G

FHIT

1-0271-004

chr3:
61120609-61120609

C

T

intronic

De novo

-

Yuen2017 G

FHIT

AU4412302

chr3:
60981169-60981169

C

G

intronic

De novo

-

Yuen2017 G

FHIT

AU4072303

chr3:
61349359-61349359

C

T

intergenic

De novo

-

Yuen2017 G

FHIT

7-0191-003

chr3:
59887088-59887088

A

G

intronic

De novo

-

Yuen2017 G

FHIT

AU4327303

chr3:
60568913-60568913

T

G

intronic

De novo

-

Yuen2017 G

FHIT

2-1327-004

chr3:
61369029-61369029

C

G

intergenic

De novo

-

Yuen2017 G

FHIT

2-1525-003

chr3:
61487944-61487944

T

C

intergenic

De novo

-

Yuen2017 G

FHIT

5-0117-003

chr3:
59949065-59949065

A

C

intronic

De novo

-

Yuen2017 G

FHIT

1-0995-003

chr3:
60417102-60417102

G

T

intronic

De novo

-

Yuen2017 G

FHIT

5-0117-003

chr3:
59962937-59962937

A

G

intronic

De novo

-

Yuen2017 G

FHIT

1-0285-004

chr3:
60030834-60030834

C

T

intronic

De novo

-

Yuen2017 G

FHIT

1-0043-004

chr3:
61363499-61363499

C

T

intergenic

De novo

-

Yuen2017 G

FHIT

AU3646301

chr3:
59789548-59789548

G

A

intronic

De novo

-

Yuen2017 G

FHIT

AU073005

chr3:
60351483-60351483

A

C

intronic

De novo

-

Yuen2017 G

FHIT

A24

chr3:
59992714-59992714

A

T

intronic

De novo

-

Wu2018 G

FHIT

A24

chr3:
59992719-59992719

T

C

intronic

De novo

-

Wu2018 G

FHIT

AU058103

chr3:
60973659-60973659

C

T

intronic

De novo

-

Yuen2017 G

FHIT

2-0318-004

chr3:
60570003-60570003

T

G

intronic

De novo

-

Yuen2017 G

FHIT

2-1696-003

chr3:
61423505-61423505

T

G

intergenic

De novo

-

Yuen2017 G

FHIT

1-0046-003

chr3:
60687161-60687161

C

G

intronic

De novo

-

Yuen2017 G

FHIT

1-0546-003

chr3:
60590832-60590845

AACACACACACACA

AACACACACACA

intronic

De novo

-

Yuen2017 G

FHIT

2-1246-003

chr3:
60019634-60019634

C

A

intronic

De novo

-

Yuen2017 G

FHIT

AU2000305

chr3:
60873731-60873731

T

C

intronic

De novo

-

Yuen2017 G

FHIT

1-0303-004

chr3:
60214955-60214955

G

A

intronic

De novo

-

Yuen2017 G

FHIT

2-1406-003

chr3:
60324637-60324637

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

FHIT

2-1210-003

chr3:
60750538-60750538

T

C

intronic

De novo

-

Yuen2017 G

FHIT

2-0238-004

chr3:
60470414-60470414

A

ATACAAAAATTAACTC

intronic

De novo

-

Yuen2017 G

FHIT

AU3680301

chr3:
60063460-60063460

A

G

intronic

De novo

-

Yuen2017 G

FHIT

AU054303

chr3:
59819743-59819743

A

C

intronic

De novo

-

Yuen2017 G

FHIT

2-0244-004

chr3:
61378525-61378525

C

T

intergenic

De novo

-

Yuen2017 G

FHIT

2-1592-003

chr3:
60589917-60589917

G

A

intronic

De novo

-

Yuen2017 G

FHIT

AU3900301

chr3:
61345070-61345070

C

A

intergenic

De novo

-

Yuen2017 G

FHIT

2-1290-004

chr3:
61475165-61475165

C

T

intergenic

De novo

-

Yuen2017 G

FHIT

2-1497-003

chr3:
60911122-60911122

T

C

intronic

De novo

-

Yuen2017 G

FHIT

AU3154302

chr3:
61005302-61005302

T

C

intronic

De novo

-

Yuen2017 G

FHIT

1-0450-003

chr3:
61055856-61055856

G

C

intronic

De novo

-

Yuen2017 G

FHIT

AU3760301

chr3:
60759460-60759460

T

C

intronic

De novo

-

Yuen2017 G

FHIT

2-1195-003

chr3:
60174733-60174733

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

FHIT

AU4234302

chr3:
60259203-60259203

G

C

intronic

De novo

-

Yuen2017 G

FHIT

1-0019-004

chr3:
60191710-60191710

A

AATAAAAAT

intronic

De novo

-

Yuen2017 G

FHIT

11252.p1

chr3:
60183760-60183760

C

T

intronic

De novo

-

Turner2016 G

FHIT

13023.p1

chr3:
60224371-60224371

G

A

intronic

De novo

-

Turner2016 G

FHIT

AU4433301

chr3:
60720177-60720177

G

A

intronic

De novo

-

Yuen2017 G

FHIT

2-1702-003

chr3:
60824266-60824266

T

C

intronic

De novo

-

Yuen2017 G

FHIT

7-0143-003

chr3:
60342858-60342858

A

G

intronic

De novo

-

Yuen2017 G

FHIT

1-0871-003

chr3:
60344775-60344775

A

G

intronic

De novo

-

Yuen2017 G

FHIT

2-1127-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

FHIT

1-0377-003

chr3:
60089066-60089066

C

T

intronic

De novo

-

Yuen2017 G

FHIT

5-0055-003

chr3:
59894760-59894760

A

AAGAACAT

intronic

De novo

-

Yuen2017 G

FHIT

2-0081-003

chr3:
60656489-60656489

G

T

intronic

De novo

-

Yuen2017 G

FHIT

7-0100-004

chr3:
59861586-59861586

G

C

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
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