Variant Results

or

Results for "FSTL4"

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

FSTL4

7-0129-003

chr5:
133141765-133141765

A

C

intergenic

De novo

-

Yuen2017 G

FSTL4

1-0049-004

chr5:
132680809-132680809

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

2-1734-003

chr5:
132548218-132548218

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

5-0017-004

chr5:
132633405-132633405

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

AU3506302

chr5:
133122944-133122944

G

T

intergenic

De novo

-

Yuen2017 G

FSTL4

2-1086-003

chr5:
132673403-132673403

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

72-0745

chr5:
132534876-132534876

A

G

exonic

Inherited

nonsynonymous SNV

NM_015082

c.T2440C

p.F814L

12.39

2.502E-5

Patowary2019 E

FSTL4

2-1434-003

chr5:
132618956-132618972

CTGTGTGTGTGTGTGTG

CTGTGTGTGTGTGTG

intronic

De novo

-

Yuen2017 G

FSTL4

AU2293302

chr5:
132846810-132846810

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

1-0107-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

FSTL4

1-0640-003

chr5:
132630966-132630966

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

AU1987302

chr5:
132613708-132613708

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

1-0104-003

chr5:
132694148-132694148

C

T

intronic

De novo

-

Yuen2017 G

FSTL4

1-0498-003

chr5:
132718136-132718155

CCCTCCTCCTCCTCCTCCTC

CCCTCCTCCTCCTCCTC

intronic

De novo

-

Yuen2017 G

FSTL4

2-1366-003

chr5:
132984938-132984938

A

G

intergenic

De novo

-

Yuen2017 G

FSTL4

2-0304-004

chr5:
132643415-132643416

AC

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

1-0494-003A

chr5:
133031258-133031258

T

G

intergenic

De novo

-

Yuen2017 G

FSTL4

1-0214-003

chr5:
133103962-133103962

A

G

intergenic

De novo

-

Yuen2017 G

FSTL4

AU4344301

chr5:
132712398-132712398

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

AU4149301

chr5:
132779729-132779729

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

AU047703

chr5:
133023359-133023359

G

C

intergenic

De novo

-

Yuen2017 G

FSTL4

1-0763-003

chr5:
132834021-132834021

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

2-0242-004

chr5:
132755269-132755269

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

AU4013301

chr5:
132966412-132966412

C

T

intergenic

De novo

-

Yuen2017 G

FSTL4

1-0222-003

chr5:
133028105-133028105

C

T

intergenic

De novo

-

Yuen2017 G

FSTL4

1-0441-003

chr5:
132758935-132758935

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

FSTL4

2-1438-003

chr5:
132626791-132626791

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FSTL4

AU3761302

chr5:
132626306-132626306

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

AU3794301

chr5:
132755089-132755089

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

1-0494-003

chr5:
133031258-133031258

T

G

intergenic

De novo

-

Yuen2017 G

FSTL4

AU015903

chr5:
132873888-132873888

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

AU2293301

chr5:
132846810-132846810

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

2-1066-003

chr5:
132600999-132600999

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

2-0319-004

chr5:
132735850-132735850

A

T

intronic

De novo

-

Yuen2017 G

FSTL4

AU3720302

chr5:
133160281-133160281

G

A

intergenic

De novo

-

Yuen2017 G

FSTL4

2-1629-003

chr5:
133209677-133209677

G

A

intergenic

De novo

-

Yuen2017 G

FSTL4

1-0483-003

chr5:
132775734-132775734

G

A

intronic

De novo

-

Yuen2016 G

FSTL4

5-5185-003

chr5:
132603408-132603408

T

C

intronic

De novo

-

Trost2022 G

FSTL4

7-0160-003

chr5:
132684859-132684859

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

MSSNG00043-003

chr5:
132616019-132616019

C

A

intronic

De novo

-

Trost2022 G

FSTL4

1-0507-003

chr5:
132676992-132676992

T

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FSTL4

AU2089302

chr5:
132601742-132601742

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

7-0486-003

chr5:
132570365-132570365

C

T

intronic

De novo

-

Trost2022 G

FSTL4

MT_18.3

chr5:
132577265-132577265

T

C

intronic

De novo

-

Trost2022 G

FSTL4

MSSNG00002-003

chr5:
132564732-132564732

T

G

intronic

De novo

-

Trost2022 G

FSTL4

2-0145-003

chr5:
133066868-133066868

C

G

intergenic

De novo

-

Yuen2017 G

FSTL4

MT_121.3

chr5:
132566373-132566373

G

A

intronic

De novo

-

Trost2022 G

FSTL4

MSSNG00007-003A

chr5:
132540924-132540924

T

G

intronic

De novo

-

Trost2022 G

FSTL4

2-1192-003

chr5:
132551771-132551771

T

C

intronic

De novo

-

Trost2022 G

FSTL4

AU2463301

chr5:
132722990-132722990

G

A

intronic

De novo

-

Trost2022 G

FSTL4

1-0188-003

chr5:
132751662-132751662

G

A

intronic

De novo

-

Trost2022 G

FSTL4

MSSNG00249-003

chr5:
132707380-132707380

C

G

intronic

De novo

-

Trost2022 G

FSTL4

REACH000246

chr5:
132722966-132722966

G

A

intronic

De novo

-

Trost2022 G

FSTL4

1-0951-003

chr5:
132640863-132640863

C

T

intronic

De novo

-

Trost2022 G

FSTL4

AU2817301

chr5:
132647924-132647924

G

A

intronic

De novo

-

Trost2022 G

FSTL4

11212.p1

chr5:
132712082-132712083

GG

TT

intronic

Maternal

-

Wilfert2021 G

FSTL4

2-0197-004

chr5:
132626348-132626348

C

G

intronic

De novo

-

Trost2022 G

FSTL4

PN400111

chr5:
132918981-132918981

G

GCTTCTGAA

intronic

Unknown

-

0.0037

Leblond2019 E

FSTL4

MSSNG00415-003

chr5:
132636610-132636610

G

A

intronic

De novo

-

Trost2022 G

FSTL4

MSSNG00120-003

chr5:
132806306-132806306

G

A

intronic

De novo

-

Trost2022 G

FSTL4

3-0752-000

chr5:
132818402-132818402

G

A

intronic

De novo

-

Trost2022 G

FSTL4

4-0062-003

chr5:
132798221-132798222

CC

AG

intronic

De novo

-

Trost2022 G

FSTL4

REACH000636

chr5:
132805050-132805050

A

T

intronic

De novo

-

Trost2022 G

FSTL4

MT_34.3

chr5:
132777774-132777775

AG

A

intronic

De novo

-

Trost2022 G

FSTL4

REACH000627

chr5:
132791725-132791725

G

C

intronic

De novo

-

Trost2022 G

FSTL4

2-0014-003

chr5:
132753931-132753953

TAAATTACCGATATCAGGAGTGA

GGCGTGAGCCACCGCGCCCGGCC

intronic

De novo

-

Trost2022 G

FSTL4

2-0733-003

chr5:
132760323-132760323

G

A

intronic

De novo

-

Trost2022 G

FSTL4

1-0670-003

chr5:
132930667-132930667

G

T

intronic

De novo

-

Trost2022 G

FSTL4

MSSNG00127-003

chr5:
132940118-132940118

G

T

intronic

De novo

-

Trost2022 G

FSTL4

AU3891303

chr5:
133037843-133037843

C

T

intergenic

De novo

-

Yuen2017 G

FSTL4

1034

chr5:
132917949-132917949

C

T

intronic

De novo

-

Trost2022 G

FSTL4

MT_69.4

chr5:
132918290-132918290

C

T

intronic

De novo

-

Trost2022 G

FSTL4

SP0119110

chr5:
132537641-132537641

T

G

exonic

De novo

nonsynonymous SNV

NM_015082

c.A1810C

p.I604L

15.22

-

Fu2022 E

FSTL4

5-5020-003

chr5:
132840909-132840909

A

G

intronic

De novo

-

Trost2022 G

FSTL4

1-0319-003

chr5:
132910063-132910063

A

G

intronic

De novo

-

Trost2022 G

FSTL4

4-0096-003

chr5:
132825310-132825310

A

C

intronic

De novo

-

Trost2022 G

FSTL4

SP0003156

chr5:
132585072-132585072

T

G

intronic

De novo

-

Fu2022 E

FSTL4

1-1008-003

chr5:
132836876-132836876

C

T

intronic

De novo

-

Trost2022 G

FSTL4

7-0024-005

chr5:
133076324-133076324

C

T

intergenic

De novo

-

Yuen2017 G

FSTL4

2-1720-003

chr5:
133076531-133076531

C

T

intergenic

De novo

-

Yuen2017 G

FSTL4

1-0197-003

chr5:
132822829-132822829

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSTL4

AU1223303

chr5:
132759373-132759373

T

C

intronic

De novo

-

Yuen2017 G

FSTL4

1-0439-003

chr5:
132577035-132577035

G

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
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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