Variant Results

or

Results for "CCDC91"

Variant Events: 97

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

CCDC91

1-0446-003

chr12:
29180669-29180669

T

G

intergenic

De novo

-

Yuen2017 G

CCDC91

1-0104-004

chr12:
29139861-29139861

T

C

intergenic

De novo

-

Yuen2017 G

CCDC91

1-0652-003

chr12:
29227655-29227657

GAC

G

intergenic

De novo

-

Yuen2017 G

CCDC91

AU3900301

chr12:
29243898-29243927

AAGAAAGAAAGAAAGAAAGAGAGAGAGAGA

AAGA

intergenic

De novo

-

Yuen2017 G

CCDC91

2-1360-003

chr12:
29094582-29094597

TTGTGTGTGTGTGTGT

TTGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

CCDC91

AU1860301

chr12:
28916590-28916590

A

G

intergenic

De novo

-

Yuen2017 G

CCDC91

1-0998-003

chr12:
29001008-29001008

G

A

intergenic

De novo

-

Yuen2017 G

CCDC91

AU3777302

chr12:
28963364-28963364

T

G

intergenic

De novo

-

Yuen2017 G

CCDC91

2-1148-004

chr12:
28964657-28964657

C

G

intergenic

De novo

-

Yuen2017 G

CCDC91

AU3787302

chr12:
29149367-29149367

C

G

intergenic

De novo

-

Yuen2017 G

CCDC91

AU4306302

chr12:
28942863-28942863

T

C

intergenic

De novo

-

Yuen2017 G

CCDC91

SP0056461

chr12:
28605540-28605540

T

C

exonic

nonsynonymous SNV

NM_018318

c.T1054C

p.S352P

14.26

-

Zhou2022 GE

CCDC91

1-0019-004

chr12:
28755816-28755816

T

C

intergenic

De novo

-

Yuen2017 G

CCDC91

AU2139301

chr12:
28637272-28637272

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC91

2-1511-003

chr12:
29057146-29057146

A

G

intergenic

De novo

-

Yuen2017 G

CCDC91

63-449

chr12:
28967361-28967361

G

A

intergenic

Inherited

-

Michaelson2012 G

CCDC91

AU3763305

chr12:
28634530-28634530

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC91

2-1235-003

chr12:
29287593-29287593

T

C

intergenic

De novo

-

Yuen2017 G

CCDC91

7-0135-003

chr12:
28671899-28671899

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC91

2-0012-004

chr12:
28938848-28938848

T

C

intergenic

De novo

-

Yuen2017 G

CCDC91

2-0309-004

chr12:
28648686-28648686

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC91

2-1456-004

chr12:
28892087-28892087

T

A

intergenic

De novo

-

Yuen2017 G

CCDC91

AU3808305

chr12:
29256766-29256766

C

T

intergenic

De novo

-

Yuen2017 G

CCDC91

2-1501-003

chr12:
28863478-28863478

A

G

intergenic

De novo

-

Yuen2017 G

CCDC91

2-1501-003

chr12:
28682207-28682207

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC91

1-0037-004

chr12:
28455793-28455793

T

C

intronic

De novo

-

Trost2022 G

CCDC91

AU2320301

chr12:
28456143-28456143

G

A

intronic

De novo

-

Trost2022 G

CCDC91

2-1350-004

chr12:
28438593-28438596

TTAT

CCGGCC

intronic

De novo

-

Trost2022 G

CCDC91

7-0363-003

chr12:
28439107-28439107

T

G

intronic

De novo

-

Trost2022 G

CCDC91

AU3632301

chr12:
28434931-28434931

T

C

intronic

De novo

-

Yuen2017 G

CCDC91

MSSNG00120-003

chr12:
28570959-28570959

A

T

intronic

De novo

-

Trost2022 G

CCDC91

7-0071-003

chr12:
28602959-28602959

G

A

intronic

De novo

-

Trost2022 G

CCDC91

12029.p1

chr12:
28412399-28412399

T

G

intronic

De novo

-

7.798E-5

Krumm2015 E

CCDC91

P6Q4Z_01

chr12:
28542238-28542238

T

TA

intronic

De novo

-

Trost2022 G

CCDC91

1-0171-005

chr12:
28543384-28543384

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC91

10-1155-004

chr12:
28545264-28545264

A

G

intronic

De novo

-

Trost2022 G

CCDC91

1-0674-004

chr12:
29124184-29124184

G

T

intergenic

De novo

-

Yuen2017 G

CCDC91

2-1723-003

chr12:
28487857-28487858

TG

CT

intronic

De novo

-

Trost2022 G

CCDC91

SP0287824

chr12:
28458552-28458552

A

C

intronic

De novo

-

Tan2024 GE

CCDC91

2-1222-003

chr12:
28688797-28688798

TA

T

intronic

De novo

-

Trost2022 G
Yuen2016 G

CCDC91

AU2525302

chr12:
28490659-28490659

T

C

intronic

De novo

-

Trost2022 G

CCDC91

1-0354-006

chr12:
28479929-28479930

GA

TT

intronic

De novo

-

Trost2022 G

CCDC91

4-0062-003

chr12:
28479929-28479930

GA

TT

intronic

De novo

-

Trost2022 G

CCDC91

AU3692301

chr12:
28642395-28642395

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC91

AU3900302

chr12:
28701649-28701649

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC91

SJD_58.3

chr12:
28684922-28684922

A

G

intronic

De novo

-

Trost2022 G

CCDC91

7-0419-003

chr12:
28644541-28644541

G

A

intronic

De novo

-

Trost2022 G

CCDC91

MSSNG00136-003

chr12:
28673790-28673790

G

C

intronic

De novo

-

Trost2022 G

CCDC91

5-5123-005

chr12:
28604305-28604305

A

G

intronic

De novo

-

Trost2022 G

CCDC91

216287

chr12:
28609818-28609818

A

G

intronic

De novo

-

Trost2022 G

CCDC91

AU3912302

chr12:
28957617-28957617

C

T

intergenic

De novo

-

Yuen2017 G

CCDC91

2-0296-004

chr12:
28501161-28501161

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC91

2-1722-003

chr12:
29048308-29048308

C

T

intergenic

De novo

-

Yuen2017 G

CCDC91

AU4006302

chr12:
29058850-29058850

C

T

intergenic

De novo

-

Yuen2017 G

CCDC91

SP0083732

chr12:
28515348-28515348

T

C

intronic

De novo

-

Fu2022 E

CCDC91

AU4006302

chr12:
29059654-29059654

T

C

intergenic

De novo

-

Yuen2017 G

CCDC91

2-1283-003

chr12:
29028601-29028601

T

A

intergenic

De novo

-

Yuen2017 G

CCDC91

2-1508-003

chr12:
29091453-29091453

T

C

intergenic

De novo

-

Yuen2017 G

CCDC91

5-0074-003

chr12:
28425145-28425145

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC91

1-0509-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

CCDC91

2-1264-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

CCDC91

2-1605-003

chr12:
28629515-28629516

AT

A

intronic

De novo

-

Yuen2017 G

CCDC91

7-0253-004

chr12:
29279231-29279231

C

A

intergenic

De novo

-

Yuen2017 G

CCDC91

1-0344-003

chr12:
28905048-28905048

A

G

intergenic

De novo

-

Yuen2017 G

CCDC91

1-0201-004

chr12:
28947674-28947674

G

A

intergenic

De novo

-

Yuen2017 G

CCDC91

AU3517302

chr12:
29194010-29194010

C

A

intergenic

De novo

-

Yuen2017 G

CCDC91

AU2793301

chr12:
28449409-28449409

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC91

5-0054-003

chr12:
29133719-29133719

G

T

intergenic

De novo

-

Yuen2017 G

CCDC91

AU4487302

chr12:
28692759-28692759

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC91

IBS-ASD-20053-blood-wgs-ILLUMINA

chr12:
28468919-28468919

A

G

intronic

De novo

-

Kim2024 G

CCDC91

IBS-ASD-9823-blood-wgs-ILLUMINA

chr12:
28457397-28457397

G

A

intronic

De novo

-

Kim2024 G

CCDC91

7-0171-003

chr12:
28440801-28440801

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC91

1-0215-006

chr12:
29038646-29038646

T

C

intergenic

De novo

-

Yuen2017 G

CCDC91

AU1848302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

CCDC91

IBS-ASD-19753-blood-wgs-ILLUMINA

chr12:
28863147-28863147

A

G

intergenic

De novo

-

Kim2024 G

CCDC91

IBS-ASD-35044-blood-wgs-ILLUMINA

chr12:
28861973-28861973

G

A

intergenic

De novo

-

Kim2024 G

CCDC91

IBS-ASD-35043-blood-wgs-ILLUMINA

chr12:
28861973-28861973

G

A

intergenic

De novo

-

Kim2024 G

CCDC91

IBS-ASD-13053-blood-wgs-ILLUMINA

chr12:
28840602-28840602

C

A

intergenic

De novo

-

Kim2024 G

CCDC91

IBS-ASD-32613-blood-wgs-ILLUMINA

chr12:
28739798-28739798

G

A

intergenic

De novo

-

Kim2024 G

CCDC91

IBS-ASD-4753-blood-wgs-ILLUMINA

chr12:
28597744-28597744

A

AT

intronic

De novo

-

Kim2024 G

CCDC91

IBS-ASD-18373-blood-wgs-ILLUMINA

chr12:
28585693-28585693

A

G

intronic

De novo

-

Kim2024 G

CCDC91

IBS-ASD-35174-blood-wgs-ILLUMINA

chr12:
28553728-28553728

G

C

intronic

De novo

-

Kim2024 G

CCDC91

IBS-ASD-19243-blood-wgs-ILLUMINA

chr12:
29277329-29277329

G

T

intergenic

De novo

-

Kim2024 G

CCDC91

IBS-ASD-15813-blood-wgs-ILLUMINA

chr12:
29213067-29213067

C

T

intergenic

De novo

-

Kim2024 G

CCDC91

IBS-ASD-19883-blood-wgs-ILLUMINA

chr12:
29193847-29193847

A

G

intergenic

De novo

-

Kim2024 G

CCDC91

IBS-ASD-10303-blood-wgs-ILLUMINA

chr12:
29134254-29134254

C

A

intergenic

De novo

-

Kim2024 G

CCDC91

IBS-ASD-13203-blood-wgs-ILLUMINA

chr12:
29133353-29133353

G

A

intergenic

De novo

-

Kim2024 G

CCDC91

IBS-ASD-12743-blood-wgs-ILLUMINA

chr12:
29072687-29072687

A

G

intergenic

De novo

-

Kim2024 G

CCDC91

IBS-ASD-13463-blood-wgs-ILLUMINA

chr12:
28971628-28971628

T

C

intergenic

De novo

-

Kim2024 G

CCDC91

AU3646301

chr12:
28614047-28614047

A

C

intronic

De novo

-

Yuen2017 G

CCDC91

IBS-ASD-4033-blood-wgs-ILLUMINA

chr12:
28896223-28896223

T

C

intergenic

De novo

-

Kim2024 G

CCDC91

3-0391-000

chr12:
29291300-29291300

A

G

intergenic

De novo

-

Yuen2017 G

CCDC91

1-0570-003

chr12:
29160600-29160600

G

T

intergenic

De novo

-

Yuen2017 G

CCDC91

AU4013303

chr12:
28897281-28897281

C

G

intergenic

De novo

-

Yuen2017 G

CCDC91

2-1283-004

chr12:
29028601-29028601

T

A

intergenic

De novo

-

Yuen2017 G

CCDC91

2-1269-003

chr12:
29033703-29033703

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CCDC91

1-0826-004

chr12:
28746703-28746703

C

T

intergenic

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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