Variant Results

or

Results for "CFAP46"

Variant Events: 63

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

CFAP46

AU2140305

chr10:
134677025-134677031

CCAATGC

CC

intronic

De novo

-

Yuen2017 G

CFAP46

iHART3297

chr10:
134681013-134681013

T

G

splicing

Maternal

splicing

8.918

-

Ruzzo2019 G

CFAP46

iHART2962

chr10:
134673921-134673922

CT

C

exonic

Maternal

frameshift deletion

NM_001200049

c.5197delA

p.R1733fs

-

Ruzzo2019 G

CFAP46

iHART2630

chr10:
134713076-134713076

G

A

exonic

Paternal

stopgain

NM_001200049

c.C3019T

p.R1007X

38.0

5.0E-4

Ruzzo2019 G

CFAP46

iHART3295

chr10:
134681013-134681013

T

G

splicing

Maternal

splicing

8.918

-

Ruzzo2019 G

CFAP46

2-0018-004

chr10:
134701885-134701886

CT

C

intronic

De novo

-

Yuen2017 G

CFAP46

AU076704

chr10:
134736085-134736085

G

A

exonic

De novo

nonsynonymous SNV

NM_001200049

c.C1384T

p.R462W

11.0

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

CFAP46

4304_16mr

chr10:
134663940-134663940

C

T

intronic

De novo

-

9.546E-5

Fu2022 E

CFAP46

1-0518-003

chr10:
134696773-134696773

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CFAP46

1002717394-C

chr10:
134647515-134647515

A

G

intronic

De novo

-

Fu2022 E

CFAP46

1-0863-003

chr10:
134696937-134696937

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CFAP46

1-0507-003

chr10:
134692229-134692229

G

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CFAP46

AU3765303

chr10:
134635617-134635625

CTGTGTGTG

CTGTGTG

intronic

De novo

-

Yuen2017 G

CFAP46

DEASD_1079_001

chr10:
134626272-134626272

G

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

CFAP46

SP0042113

chr10:
134699420-134699420

C

G

exonic

De novo

synonymous SNV

NM_001200049

c.G3348C

p.L1116L

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CFAP46

AU4234302

chr10:
134681013-134681013

T

G

splicing

Maternal

splicing

8.918

-

Cirnigliaro2023 G

CFAP46

SP0126624

chr10:
134626295-134626295

A

G

exonic

De novo

synonymous SNV

NM_001200049

c.T7495C

p.L2499L

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CFAP46

mAGRE2962

chr10:
134673921-134673922

CT

C

exonic

Maternal

frameshift deletion

NM_001200049

c.5197delA

p.R1733fs

-

Cirnigliaro2023 G

CFAP46

SP0114923

chr10:
134671059-134671059

A

G

intronic

De novo

-

Fu2022 E

CFAP46

SP0096757

chr10:
134659549-134659549

G

A

intronic

De novo

-

2.365E-5

Fu2022 E
Trost2022 G

CFAP46

SP0111893

chr10:
134674441-134674441

C

T

exonic

De novo

nonsynonymous SNV

NM_001200049

c.G4936A

p.A1646T

12.08

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CFAP46

SP0082491

chr10:
134682866-134682866

C

T

exonic

De novo

nonsynonymous SNV

NM_001200049

c.G4522A

p.A1508T

10.82

7.407E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

CFAP46

SP0088294

chr10:
134628410-134628410

C

T

exonic

De novo

nonsynonymous SNV

NM_001200049

c.G7126A

p.V2376M

4.525

8.24E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

CFAP46

SJD_69.3

chr10:
134639422-134639422

T

G

intronic

De novo

-

Trost2022 G

CFAP46

mAGRE2141

chr10:
134748346-134748346

A

C

exonic

Maternal

stopgain

NM_001200049

c.T776G

p.L259X

17.46

8.261E-6

Cirnigliaro2023 G

CFAP46

1-1038-003

chr10:
134660177-134660177

G

A

intronic

De novo

-

Trost2022 G

CFAP46

mAGRE1991

chr10:
134748346-134748346

A

C

exonic

Paternal

stopgain

NM_001200049

c.T776G

p.L259X

17.46

8.261E-6

Cirnigliaro2023 G

CFAP46

MSSNG00350-003

chr10:
134626463-134626463

C

T

intronic

De novo

-

Trost2022 G

CFAP46

mAGRE4244

chr10:
134743310-134743310

T

C

splicing

Maternal

splicing

9.527

-

Cirnigliaro2023 G

CFAP46

7-0051-003

chr10:
134635825-134635825

G

C

intronic

De novo

-

Trost2022 G

CFAP46

mAGRE4366

chr10:
134731896-134731896

C

T

splicing

Maternal

splicing

9.37

2.0E-4

Cirnigliaro2023 G

CFAP46

SP0012384

chr10:
134722217-134722217

G

A

intronic

De novo

-

Fu2022 E

CFAP46

mAGRE4130

chr10:
134723530-134723530

C

CG

exonic

Maternal

frameshift insertion

NM_001200049

c.2541dupC

p.E848fs

-

Cirnigliaro2023 G

CFAP46

SP0071311

chr10:
134691646-134691646

C

G

intronic

De novo

-

Fu2022 E

CFAP46

mAGRE2630

chr10:
134713076-134713076

G

A

exonic

Paternal

stopgain

NM_001200049

c.C3019T

p.R1007X

38.0

5.0E-4

Cirnigliaro2023 G

CFAP46

mAGRE5181

chr10:
134698610-134698611

CA

C

exonic

Maternal

frameshift deletion

NM_001200049

c.3623delT

p.L1208fs

-

1.0E-4

Cirnigliaro2023 G

CFAP46

1-0400-003

chr10:
134635877-134635877

C

A

intronic

De novo

-

Yuen2017 G

CFAP46

SP0130244

chr10:
134726815-134726815

C

T

intronic

De novo

-

Fu2022 E

CFAP46

AU4234303

chr10:
134681013-134681013

T

G

splicing

Maternal

splicing

8.918

-

Cirnigliaro2023 G

CFAP46

11480.p1

chr10:
134745272-134745272

C

CCCACAT

intronic

De novo

-

Krumm2015 E

CFAP46

SP0100869

chr10:
134731966-134731966

G

A

exonic

De novo

synonymous SNV

NM_001200049

c.C1917T

p.V639V

-

6.246E-5

Trost2022 G

CFAP46

AU026604

chr10:
134689069-134689069

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CFAP46

2-1246-003

chr10:
134741898-134741899

TC

CG

intronic

De novo

-

Trost2022 G

CFAP46

5-0012-003

chr10:
134720020-134720020

A

G

intronic

De novo

-

Trost2022 G

CFAP46

REACH000650

chr10:
134722217-134722217

G

A

intronic

De novo

-

Trost2022 G

CFAP46

AU4173301

chr10:
134694244-134694244

T

C

intronic

De novo

-

Trost2022 G

CFAP46

MT_154.3

chr10:
134697448-134697448

A

G

intronic

De novo

-

Trost2022 G

CFAP46

3-0662-000

chr10:
134683129-134683129

C

T

intronic

De novo

-

Trost2022 G

CFAP46

mAGRE4273

chr10:
134748368-134748368

T

C

splicing

Paternal

splicing

7.054

2.488E-5

Cirnigliaro2023 G

CFAP46

SP0159525

chr10:
134686228-134686228

G

A

exonic

De novo

nonsynonymous SNV

NM_001200049

c.C4463T

p.S1488L

9.179

6.02E-5

Trost2022 G

CFAP46

mAGRE2142

chr10:
134748346-134748346

A

C

exonic

Maternal

stopgain

NM_001200049

c.T776G

p.L259X

17.46

8.261E-6

Cirnigliaro2023 G

CFAP46

MT_82.3

chr10:
134745623-134745623

C

T

intronic

De novo

-

Trost2022 G

CFAP46

MSSNG00436-003

chr10:
134749150-134749150

C

G

intronic

De novo

-

Trost2022 G

CFAP46

1-0394-003

chr10:
134636528-134636543

TGCTGTGTGTGCGCTG

TGCTG

intronic

De novo

-

Yuen2017 G

CFAP46

AU074503

chr10:
134609638-134609638

T

G

intergenic

De novo

-

Yuen2017 G

CFAP46

AU074503

chr10:
134609650-134609650

T

C

intergenic

De novo

-

Yuen2017 G

CFAP46

11482.p1

chr10:
134752145-134752145

C

T

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001200049

c.G484A

p.V162M

12.59

2.484E-5

Ji2016 E
Krumm2015 E
Krupp2017 E
Zhou2022 GE

CFAP46

12579.p1

chr10:
134743800-134743800

A

G

intronic

De novo

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E

CFAP46

1-0507-003

chr10:
134638199-134638199

T

C

intronic

De novo

-

Yuen2017 G

CFAP46

ASC_NP275

chr10:
134690316-134690316

C

A

exonic

De novo

synonymous SNV

NM_001200049

c.G4362T

p.P1454P

-

Fu2022 E

CFAP46

1-0554-003

chr10:
134706460-134706460

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CFAP46

AU3765302

chr10:
134635617-134635625

CTGTGTGTG

CTGTGTG

intronic

De novo

-

Yuen2017 G

CFAP46

05C43787

chr10:
134740039-134740039

T

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 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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