Variant Results

or

Results for "FSTL5"

Variant Events: 83

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

FSTL5

2-1398-004

chr4:
162735764-162735764

T

A

intronic

De novo

-

Yuen2017 G

FSTL5

AU3874301

chr4:
163002555-163002555

C

T

intronic

De novo

-

Yuen2017 G

FSTL5

2-1526-003

chr4:
163755819-163755819

A

G

intergenic

De novo

-

Yuen2017 G

FSTL5

13878.p1

chr4:
163244883-163244883

T

G

intergenic

Mosaic

-

Dou2017 E

FSTL5

2-0007-003

chr4:
162662439-162662439

T

C

intronic

De novo

-

Yuen2017 G

FSTL5

AU2248302

chr4:
163744894-163744894

T

A

intergenic

De novo

-

Yuen2017 G

FSTL5

5-0054-003

chr4:
162645050-162645050

A

C

intronic

De novo

-

Yuen2017 G

FSTL5

7-0192-003

chr4:
162900469-162900471

TCA

T

intronic

De novo

-

Yuen2017 G

FSTL5

AU3124304

chr4:
162429093-162429100

TTCTCTCT

TTCT

intronic

De novo

-

Yuen2017 G

FSTL5

Cukier2014:17302

chr4:
162697058-162697058

C

T

exonic

Unknown

nonsynonymous SNV

NM_001128427
NM_001128428
NM_020116

c.G575A
c.G575A
c.G578A

p.G192E
p.G192E
p.G193E

22.5

0.0152

Cukier2014 E

FSTL5

2-0270-004

chr4:
163352674-163352674

C

T

intergenic

De novo

-

Yuen2017 G

FSTL5

2-1369-003

chr4:
163278792-163278792

A

T

intergenic

De novo

-

Yuen2017 G

FSTL5

2-1485-004

chr4:
162810148-162810148

T

C

intronic

De novo

-

Yuen2017 G

FSTL5

5-0030-003

chr4:
163447741-163447741

A

G

intergenic

De novo

-

Yuen2017 G

FSTL5

AU4186302

chr4:
163023853-163023860

TTATATAT

TTAT

intronic

De novo

-

Yuen2017 G

FSTL5

2-1258-004

chr4:
162635506-162635506

C

T

intronic

De novo

-

Yuen2017 G

FSTL5

2-1715-004

chr4:
162724012-162724012

T

C

intronic

De novo

-

Yuen2017 G

FSTL5

7-0078-003

chr4:
163512686-163512686

T

G

intergenic

De novo

-

Yuen2017 G

FSTL5

3-0438-000

chr4:
163760903-163760903

G

C

intergenic

De novo

-

Yuen2016 G

FSTL5

AU4465303

chr4:
162553966-162553966

G

T

intronic

De novo

-

Yuen2017 G

FSTL5

1-0162-004

chr4:
163251462-163251462

A

C

intergenic

De novo

-

Yuen2017 G

FSTL5

1-0299-004

chr4:
163523173-163523173

T

TATGAATTTACATATGA

intergenic

De novo

-

Yuen2017 G

FSTL5

2-1094-005

chr4:
162420989-162420989

T

TATATTAGCAAATTCTTAGGAATAC

intronic

De novo

-

Yuen2017 G

FSTL5

2-1341-004

chr4:
163292468-163292468

C

T

intergenic

De novo

-

Yuen2017 G

FSTL5

iHART2951

chr4:
163032450-163032450

A

T

exonic

Maternal

stopgain

NM_001128427
NM_001128428
NM_020116

c.T99A
c.T99A
c.T99A

p.Y33X
p.Y33X
p.Y33X

41.0

8.242E-6

Ruzzo2019 G

FSTL5

2-0003-003

chr4:
162585299-162585299

C

T

intronic

De novo

-

Yuen2017 G

FSTL5

AU4012302

chr4:
163881294-163881294

A

C

intergenic

De novo

-

Yuen2017 G

FSTL5

1-0563-003

chr4:
163297215-163297215

T

TCATG

intergenic

De novo

-

Yuen2017 G

FSTL5

2-1741-003

chr4:
163524533-163524571

TTTGGACACATAATTGGACACATAATTGGACACATAATT

TTTGGACACATAATTGGACACATAATT

intergenic

De novo

-

Yuen2017 G

FSTL5

1-0479-006

chr4:
162433147-162433147

A

G

intronic

De novo

-

Yuen2017 G

FSTL5

2-0149-004

chr4:
162350709-162350709

T

C

intronic

De novo

-

Yuen2017 G

FSTL5

AU3712301

chr4:
162366824-162366824

C

T

intronic

De novo

-

Yuen2017 G

FSTL5

2-1183-003

chr4:
163733048-163733048

C

G

intergenic

De novo

-

Yuen2017 G

FSTL5

2-0208-003

chr4:
163806061-163806062

TA

T

intergenic

De novo

-

Yuen2017 G

FSTL5

2-0063-003

chr4:
162358535-162358535

G

A

intronic

De novo

-

Yuen2017 G

FSTL5

AU4183301

chr4:
162692669-162692669

C

T

intronic

De novo

-

Yuen2017 G

FSTL5

1-0674-004

chr4:
163756223-163756223

T

C

intergenic

De novo

-

Yuen2017 G

FSTL5

1-0820-003

chr4:
163883969-163883969

A

T

intergenic

De novo

-

Yuen2017 G

FSTL5

2-0270-003

chr4:
163352674-163352674

C

T

intergenic

De novo

-

Yuen2017 G

FSTL5

AU062204

chr4:
163442282-163442282

C

T

intergenic

De novo

-

Yuen2017 G

FSTL5

AU3517301

chr4:
163381671-163381671

C

T

intergenic

De novo

-

Yuen2017 G

FSTL5

1-0874-003

chr4:
162806829-162806829

G

C

intronic

De novo

-

Yuen2017 G

FSTL5

2-0109-003

chr4:
162926203-162926203

T

C

intronic

De novo

-

Yuen2017 G

FSTL5

1-0073-003

chr4:
162791155-162791155

T

C

intronic

De novo

-

Yuen2017 G

FSTL5

1-0142-005

chr4:
162910805-162910805

C

T

intronic

De novo

-

Yuen2017 G

FSTL5

AU060703

chr4:
163111974-163111974

C

T

intergenic

De novo

-

Yuen2017 G

FSTL5

AU1795303

chr4:
163714891-163714891

G

T

intergenic

De novo

-

Yuen2017 G

FSTL5

2-1166-003

chr4:
162876423-162876423

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

FSTL5

AU071203

chr4:
163898809-163898809

G

T

intergenic

De novo

-

Yuen2017 G

FSTL5

AU1725302

chr4:
162844549-162844549

C

G

intronic

De novo

-

Yuen2017 G

FSTL5

1-0201-005

chr4:
162442777-162442777

G

A

intronic

De novo

-

Yuen2017 G

FSTL5

2-1399-003

chr4:
163757199-163757199

G

A

intergenic

De novo

-

Yuen2017 G

FSTL5

1-0225-003

chr4:
163427110-163427110

T

G

intergenic

De novo

-

Yuen2017 G

FSTL5

5-0071-003

chr4:
163322852-163322852

T

G

intergenic

De novo

-

Yuen2017 G

FSTL5

1-0699-003

chr4:
163011792-163011792

G

A

intronic

De novo

-

Yuen2017 G

FSTL5

AU071203

chr4:
162642169-162642169

G

A

intronic

De novo

-

Yuen2017 G

FSTL5

1-0051-005

chr4:
163438487-163438487

G

T

intergenic

De novo

-

Yuen2017 G

FSTL5

11252.p1

chr4:
162705870-162705870

C

T

intronic

De novo

-

Turner2016 G

FSTL5

2-1168-003

chr4:
162432095-162432095

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

FSTL5

1-0344-003

chr4:
163390117-163390117

G

C

intergenic

De novo

-

Yuen2017 G

FSTL5

AU3912302

chr4:
162585274-162585274

C

T

intronic

De novo

-

Yuen2017 G

FSTL5

13393.p1

chr4:
162722869-162722869

A

G

intronic

De novo

-

Turner2016 G

FSTL5

1-0303-003

chr4:
163938003-163938003

G

A

intergenic

De novo

-

Yuen2017 G

FSTL5

AU3368302

chr4:
163392367-163392367

T

C

intergenic

De novo

-

Yuen2017 G

FSTL5

11341.p1

chr4:
162811089-162811089

A

G

intronic

De novo

-

Turner2016 G

FSTL5

1-0582-003

chr4:
163481132-163481132

A

T

intergenic

De novo

-

Yuen2017 G

FSTL5

A29

chr4:
163380121-163380121

T

C

intergenic

De novo

-

Wu2018 G

FSTL5

AU3263302

chr4:
162578927-162578927

C

T

intronic

De novo

-

Yuen2017 G

FSTL5

1-0806-003

chr4:
162742516-162742516

G

A

intronic

De novo

-

Yuen2017 G

FSTL5

2-1085-003

chr4:
163867225-163867225

C

A

intergenic

De novo

-

Yuen2017 G

FSTL5

AU2793302

chr4:
163020598-163020598

C

A

intronic

De novo

-

Yuen2017 G

FSTL5

5-0025-004

chr4:
162407865-162407865

G

A

intronic

De novo

-

Yuen2017 G

FSTL5

2-1169-003

chr4:
163544133-163544133

C

CT

intergenic

De novo

-

Yuen2017 G

FSTL5

5-0109-003

chr4:
163409817-163409817

T

C

intergenic

De novo

-

Yuen2017 G

FSTL5

AU0452304

chr4:
162696142-162696142

A

G

intronic

De novo

-

Yuen2017 G

FSTL5

2-1422-003

chr4:
163626559-163626559

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FSTL5

2-1291-003

chr4:
162886590-162886590

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

FSTL5

2-0289-003

chr4:
162420989-162420989

T

TATATTAGCAAATTCTTAGGAATAC

intronic

De novo

-

Yuen2017 G

FSTL5

2-0006-003

chr4:
163022181-163022181

G

A

intronic

De novo

-

Yuen2017 G

FSTL5

2-1005-003

chr4:
163659047-163659047

G

A

intergenic

De novo

-

Yuen2017 G

FSTL5

A11

chr4:
163694896-163694896

C

G

intergenic

De novo

-

Wu2018 G

FSTL5

AU4234302

chr4:
162993184-162993184

T

C

intronic

De novo

-

Yuen2017 G

FSTL5

7-0095-004

chr4:
162783236-162783237

GA

G

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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