Variant Results

or

Results for "FRMD4A"

Variant Events: 88

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

FRMD4A

2-0202-004

chr10:
14182457-14182457

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

1-0188-003

chr10:
13717584-13717584

A

T

intronic

De novo

-

Trost2022 G

FRMD4A

1-0028-003

chr10:
14395026-14395026

C

T

intergenic

De novo

-

Yuen2017 G

FRMD4A

1-0188-003

chr10:
13717589-13717589

T

C

intronic

De novo

-

Trost2022 G

FRMD4A

7-0326-003

chr10:
13693704-13693704

G

T

intronic

De novo

-

Trost2022 G

FRMD4A

3-0661-000

chr10:
14098656-14098656

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

2-1552-003

chr10:
13710837-13710837

G

A

intronic

De novo

-

Trost2022 G

FRMD4A

1-0286-004

chr10:
14262423-14262423

A

AAAAAGCAG

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

7-0235-003

chr10:
13802143-13802143

T

C

intronic

De novo

-

Trost2022 G

FRMD4A

2-1106-004

chr10:
13805588-13805588

C

G

intronic

De novo

-

Trost2022 G

FRMD4A

7-0227-003

chr10:
13758758-13758758

A

C

intronic

De novo

-

Trost2022 G

FRMD4A

2-1177-003

chr10:
14076638-14076638

T

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FRMD4A

AU2283301

chr10:
13795271-13795271

G

A

intronic

De novo

-

Trost2022 G

FRMD4A

SP0085515

chr10:
13743454-13743454

A

C

exonic

De novo

nonsynonymous SNV

NM_018027

c.T861G

p.F287L

16.81

-

Trost2022 G

FRMD4A

SP0067090

chr10:
13749958-13749958

T

G

intronic

De novo

-

Trost2022 G

FRMD4A

1-1134-003

chr10:
13728802-13728802

C

A

intronic

De novo

-

Trost2022 G

FRMD4A

REACH000597

chr10:
13732722-13732722

G

GGGAGCC

intronic

De novo

-

Trost2022 G

FRMD4A

2-1743-003A

chr10:
13968645-13968645

A

G

intronic

De novo

-

Trost2022 G

FRMD4A

5-0001-003

chr10:
13968844-13968844

C

T

intronic

De novo

-

Trost2022 G

FRMD4A

2-1743-003A

chr10:
13958287-13958287

C

A

intronic

De novo

-

Trost2022 G

FRMD4A

4-0062-003

chr10:
13961610-13961611

GG

CT

intronic

De novo

-

Trost2022 G

FRMD4A

3-0253-000

chr10:
13899893-13899893

A

G

intronic

De novo

-

Trost2022 G

FRMD4A

7-0256-003

chr10:
13773179-13773179

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

7-0364-003

chr10:
13941618-13941618

A

G

intronic

De novo

-

Trost2022 G

FRMD4A

3-0775-000

chr10:
13846045-13846045

A

G

intronic

De novo

-

Trost2022 G

FRMD4A

5-5186-003

chr10:
13886996-13886996

A

G

intronic

De novo

-

Trost2022 G

FRMD4A

2-1155-003

chr10:
13740463-13740463

A

G

intronic

De novo

-

Yuen2017 G

FRMD4A

6-0476-003

chr10:
14102431-14102431

G

T

intronic

De novo

-

Trost2022 G

FRMD4A

MSSNG00368-004

chr10:
14013423-14013423

C

T

intronic

De novo

-

Trost2022 G

FRMD4A

SJD_75.3

chr10:
14076417-14076420

TAGA

T

intronic

De novo

-

Trost2022 G

FRMD4A

AU024607

chr10:
14000082-14000082

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

1-1018-003

chr10:
14000457-14000457

G

C

intronic

De novo

-

Trost2022 G

FRMD4A

MSSNG00342-004

chr10:
14009584-14009584

T

G

intronic

De novo

-

Trost2022 G

FRMD4A

AU3853302

chr10:
14349160-14349160

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

3-0460-000

chr10:
13972211-13972211

G

A

intronic

De novo

-

Trost2022 G

FRMD4A

AU3907302

chr10:
13977478-13977478

T

G

intronic

De novo

-

Trost2022 G

FRMD4A

1-0990-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

2-1642-003A

chr10:
14265693-14265693

T

C

intronic

De novo

-

Trost2022 G

FRMD4A

SJD_50.3

chr10:
14315379-14315379

G

A

intronic

De novo

-

Trost2022 G

FRMD4A

7-0127-003

chr10:
14242488-14242489

CA

TG

intronic

De novo

-

Trost2022 G

FRMD4A

3-0246-000

chr10:
14260999-14260999

T

G

intronic

De novo

-

Trost2022 G

FRMD4A

AU3874301

chr10:
14148831-14148831

G

A

intronic

De novo

-

Yuen2017 G

FRMD4A

7-0277-003

chr10:
14178002-14178002

G

T

intronic

De novo

-

Trost2022 G

FRMD4A

7-0127-003

chr10:
14242480-14242481

TG

CA

intronic

De novo

-

Trost2022 G

FRMD4A

1-1120-003

chr10:
14145775-14145775

T

C

intronic

De novo

-

Trost2022 G

FRMD4A

7-0383-003

chr10:
14173790-14173790

C

T

intronic

De novo

-

Trost2022 G

FRMD4A

2-1645-003

chr10:
13877521-13877521

G

A

intronic

De novo

-

Yuen2017 G

FRMD4A

2-1254-003

chr10:
14085025-14085025

A

G

intronic

De novo

-

Yuen2016 G

FRMD4A

11023.p1

chr10:
13699273-13699273

G

A

exonic

Mosaic

synonymous SNV

NM_018027

c.C2316T

p.A772A

-

1.502E-5

Dou2017 E

FRMD4A

AU4072303

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

MT_183.4

chr10:
14320764-14320764

T

G

intronic

De novo

-

Trost2022 G

FRMD4A

1-0144-004

chr10:
14199409-14199420

AGAGTGGAAGCG

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

AU2310301

chr10:
14353394-14353394

G

A

intronic

De novo

-

Trost2022 G

FRMD4A

2-1250-003

chr10:
14281437-14281437

T

C

intronic

De novo

-

Yuen2017 G

FRMD4A

1-0671-003

chr10:
14358798-14358798

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

AU026604

chr10:
14389837-14389843

CATATAT

CATAT

intergenic

De novo

-

Yuen2017 G

FRMD4A

SP0117749

chr10:
13716863-13716863

C

T

intronic

De novo

-

Fu2022 E

FRMD4A

A10

Complex Event; expand row to view variants

De novo

-

Wu2018 G
Wu2018 G

FRMD4A

AU030104

chr10:
14051118-14051118

A

G

intronic

De novo

-

Yuen2017 G

FRMD4A

1-0004-003

chr10:
14234438-14234438

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

1-1011-003

chr10:
13699283-13699283

G

T

exonic

De novo

nonsynonymous SNV

NM_018027

c.C2306A

p.S769Y

12.46

-

Trost2022 G
Zhou2022 GE

FRMD4A

7-0160-003

chr10:
13788260-13788260

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

AU1640302

chr10:
13783558-13783558

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

2-1132-003

chr10:
14019270-14019270

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

2-1093-003

chr10:
13867590-13867590

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

13171.p1

chr10:
14014901-14014901

C

A

intronic

De novo

-

Turner2016 G

FRMD4A

13171.p1

chr10:
14027523-14027523

C

G

intronic

De novo

-

Turner2016 G

FRMD4A

AU3807302

chr10:
13789947-13789947

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

14015.p1

chr10:
13773566-13773566

T

C

intronic

De novo

-

Turner2016 G

FRMD4A

13171.p1

chr10:
14046378-14046378

C

A

intronic

De novo

-

Turner2016 G

FRMD4A

13171.p1

chr10:
14049780-14049780

C

G

intronic

De novo

-

Turner2016 G

FRMD4A

13171.p1

chr10:
14031740-14031740

C

G

intronic

De novo

-

Turner2016 G

FRMD4A

AU0638302

chr10:
14423347-14423347

T

A

intergenic

De novo

-

Yuen2017 G

FRMD4A

13171.p1

chr10:
14038772-14038772

C

G

intronic

De novo

-

Turner2016 G

FRMD4A

13543.p1

chr10:
14139845-14139845

C

T

intronic

De novo

-

Turner2016 G

FRMD4A

5-0021-003

chr10:
13733073-13733073

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

AU3371305

chr10:
14143629-14143629

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

AU4234303

chr10:
14368828-14368828

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

FRMD4A

13171.p1

chr10:
14052927-14052927

C

G

intronic

De novo

-

Turner2016 G

FRMD4A

13171.p1

chr10:
14058167-14058167

C

G

intronic

De novo

-

Turner2016 G

FRMD4A

5-0015-004

chr10:
14227514-14227518

GGTTT

G

intronic

De novo

-

Yuen2017 G

FRMD4A

AU4164301

chr10:
14026490-14026490

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

2-1210-003

chr10:
13713830-13713830

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

1-0627-005

chr10:
13749860-13749860

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

AU030103

chr10:
14051118-14051118

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

2-0198-003

chr10:
13707026-13707026

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

1-0359-003

chr10:
13725223-13725223

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRMD4A

2-1184-003

chr10:
14220457-14220457

T

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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