Variant Results

or

or

Results for "DNAH6"

Variant Events: 22

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

DNAH6

AU3648301

chr2:
85026621-85026621

G

A

intronic

De novo

-

-

Yuen2017 G

DNAH6

AU2381302

chr2:
84835261-84835261

G

A

intronic

De novo

-

-

Yuen2017 G

DNAH6

2-0057-004

chr2:
84819606-84819606

A

G

intronic

De novo

-

-

Yuen2017 G

DNAH6

5-0077-003

chr2:
84790582-84790582

C

T

intronic

De novo

-

-

Yuen2017 G

DNAH6

2-1283-003

chr2:
84821301-84821301

G

A

intronic

De novo

-

-

Yuen2017 G

DNAH6

Cukier2014:7936

chr2:
84928399-84928399

C

A

exonic

Unknown

nonsynonymous SNV

NM_001370

c.C7997A

p.S2666Y

21.7

Cukier2014 E

DNAH6

11568.p1

chr2:
84846793-84846793

A

G

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

DNAH6

2-0242-004

chr2:
84959641-84959641

G

A

intronic

De novo

-

-

Yuen2017 G

DNAH6

AU2165301

chr2:
85002590-85002590

G

C

intronic

De novo

-

-

Yuen2017 G

DNAH6

AU4465303

chr2:
84954543-84954543

T

C

intronic

De novo

-

-

Yuen2017 G

DNAH6

1-0079-008

chr2:
84966769-84966769

C

T

intronic

De novo

-

-

Yuen2017 G

DNAH6

2-0171-003

chr2:
84865807-84865807

G

A

intronic

De novo

-

-

Yuen2017 G

DNAH6

AU4496301

chr2:
85029973-85029973

T

A

intronic

De novo

-

-

Yuen2017 G

DNAH6

1-0150-004

chr2:
84816804-84816804

G

C

intronic

De novo

-

-

Yuen2017 G

DNAH6

AU3124304

chr2:
84860464-84860464

C

T

intronic

De novo

-

-

Yuen2017 G

DNAH6

2-1283-004

chr2:
84821301-84821301

G

A

intronic

De novo

-

-

Yuen2017 G

DNAH6

DEASD_1039_001

chr2:
84880809-84880809

T

A

exonic

De novo

synonymous SNV

NM_001370

c.T5445A

p.G1815G

-

-

Satterstrom2020 E

DNAH6

2-1376-003

chr2:
84990669-84990669

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

DNAH6

1-0107-003

chr2:
84999540-84999557

AACACACACACACACACA

AACACACACACACACA

intronic

De novo

-

-

Yuen2017 G

DNAH6

2-0202-004

chr2:
84791190-84791190

T

G

intronic

De novo

-

-

Yuen2017 G

DNAH6

AU030703

chr2:
84993263-84993263

G

A

intronic

De novo

-

-

Yuen2017 G

DNAH6

AU012804

chr2:
84826821-84826821

G

T

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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