Variant Results

or

Results for "DNAH3"

Variant Events: 78

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

DNAH3

2-1300-003

chr16:
21109241-21109242

TA

TAA

intronic

De novo

-

Yuen2017 G

DNAH3

Li2017:20711

chr16:
20966188-20966188

C

T

exonic

Unknown

nonsynonymous SNV

NM_017539

c.G11018A

p.G3673D

26.5

8.239E-6

Li2017 T

DNAH3

Li2017:18927

chr16:
20966299-20966299

G

T

exonic

Unknown

nonsynonymous SNV

NM_017539

c.C10907A

p.P3636H

27.8

2.0E-4

Li2017 T

DNAH3

7-0253-005

chr16:
21029568-21029568

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH3

A11031-3

chr16:
21108742-21108743

CT

C

exonic

Unknown

frameshift deletion

NM_017539

c.2598delA

p.K866fs

-

Li2017 T

DNAH3

74-0352

chr16:
21135458-21135458

A

G

intronic

Unknown

-

Michaelson2012 G

DNAH3

1-0554-003

chr16:
20984968-20984968

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH3

AU3716302

chr16:
21053231-21053231

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH3

A12011-1

chr16:
20966299-20966299

G

T

exonic

Unknown

nonsynonymous SNV

NM_017539

c.C10907A

p.P3636H

27.8

2.0E-4

Li2017 T

DNAH3

Li2017:19574

chr16:
20975916-20975916

T

TA

exonic

Unknown

frameshift insertion

NM_017539

c.9289_9290insT

p.K3097fs

-

Li2017 T

DNAH3

1-0219-003

chr16:
20989072-20989074

TCA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH3

ASDFI_986

chr16:
20994072-20994072

A

G

exonic

De novo

synonymous SNV

NM_017539

c.T7830C

p.D2610D

-

1.65E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAH3

1-0985-003

chr16:
21094127-21094127

C

G

intronic

De novo

-

Yuen2017 G

DNAH3

5-0077-004

chr16:
21142960-21142960

C

T

intronic

De novo

-

Yuen2017 G

DNAH3

Li2017:17428

chr16:
21045329-21045329

C

G

exonic

Unknown

nonsynonymous SNV

NM_017539

c.G5164C

p.V1722L

25.9

1.655E-5

Li2017 T

DNAH3

AU017703

chr16:
20961312-20961312

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH3

A5

chr16:
21108744-21108745

TT

T

exonic

De novo

frameshift deletion

NM_017539

c.2596delA

p.K866fs

-

Wu2018 G

DNAH3

1-0568-003

chr16:
21142937-21142937

G

A

intronic

De novo

-

Yuen2017 G

DNAH3

PN400499

chr16:
20975976-20975976

C

A

exonic

Unknown

nonsynonymous SNV

NM_017539

c.G9230T

p.R3077L

20.7

1.648E-5

Leblond2019 E

DNAH3

1-0259-003

chr16:
21142949-21142949

T

C

intronic

De novo

-

Yuen2017 G

DNAH3

Li2017:17558

chr16:
21133264-21133264

A

G

splicing

Unknown

splicing

17.86

-

Li2017 T

DNAH3

SP0107568

chr16:
20975431-20975431

C

T

exonic

De novo

nonsynonymous SNV

NM_017539

c.G9775A

p.A3259T

22.5

3.295E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH3

SP0002274

chr16:
20975652-20975652

A

G

exonic

De novo

nonsynonymous SNV

NM_017539

c.T9554C

p.V3185A

22.7

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH3

SP0027757

chr16:
20974719-20974719

A

G

exonic

De novo

nonsynonymous SNV

NM_017539

c.T10487C

p.M3496T

14.01

8.237E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH3

11442.p1

chr16:
21038393-21038393

G

A

exonic

synonymous SNV

NM_017539

c.C5496T

p.F1832F

-

Zhou2022 GE

DNAH3

AU2213301

chr16:
20996803-20996803

G

A

exonic

nonsynonymous SNV

NM_017539

c.C7261T

p.R2421C

17.58

5.767E-5

Zhou2022 GE

DNAH3

mAGRE3011

chr16:
20966298-20966298

G

GA

exonic

Maternal

frameshift insertion

NM_017539

c.10907_10908insT

p.P3636fs

-

Cirnigliaro2023 G

DNAH3

mAGRE5140

chr16:
20944746-20944746

C

T

exonic

Paternal

stopgain

NM_017539

c.G12081A

p.W4027X

52.0

1.0E-4

Cirnigliaro2023 G

DNAH3

mAGRE5698

chr16:
20944563-20944567

ATAGT

A

exonic

Paternal

frameshift deletion

NM_017539

c.12260_12263del

p.N4087fs

-

Cirnigliaro2023 G

DNAH3

mAGRE5697

chr16:
20944563-20944567

ATAGT

A

exonic

Paternal

frameshift deletion

NM_017539

c.12260_12263del

p.N4087fs

-

Cirnigliaro2023 G

DNAH3

SP0075841

chr16:
21073795-21073795

G

C

intronic

De novo

-

Fu2022 E
Zhou2022 GE

DNAH3

ASC_CA_96_A

chr16:
21080850-21080850

G

C

exonic

De novo

synonymous SNV

NM_017539

c.C3267G

p.T1089T

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAH3

SP0090672

chr16:
20974616-20974616

G

A

exonic

De novo

synonymous SNV

NM_017539

c.C10590T

p.D3530D

-

Trost2022 G

DNAH3

mAGRE2458

chr16:
21136606-21136606

G

A

exonic

Paternal

stopgain

NM_017539

c.C1294T

p.R432X

16.42

8.251E-6

Cirnigliaro2023 G

DNAH3

1-0887-003

chr16:
20981930-20981930

T

A

intronic

De novo

-

Trost2022 G

DNAH3

mAGRE2171

chr16:
21080753-21080754

AT

A

exonic

Maternal

frameshift deletion

NM_017539

c.3363delA

p.K1121fs

-

8.238E-6

Cirnigliaro2023 G

DNAH3

AU2433302

chr16:
21073943-21073943

G

A

exonic

Maternal

stopgain

NM_017539

c.C3580T

p.R1194X

44.0

1.0E-4

Cirnigliaro2023 G

DNAH3

AU1725302

chr16:
21063170-21063172

CTT

C

exonic

Maternal

frameshift deletion

NM_017539

c.4057_4058del

p.K1353fs

-

Cirnigliaro2023 G

DNAH3

mAGRE2449

chr16:
21061005-21061005

T

G

splicing

Paternal

splicing

24.1

4.121E-5

Cirnigliaro2023 G

DNAH3

mAGRE3014

chr16:
20966298-20966298

G

GA

exonic

Maternal

frameshift insertion

NM_017539

c.10907_10908insT

p.P3636fs

-

Cirnigliaro2023 G

DNAH3

mAGRE3013

chr16:
20966298-20966298

G

GA

exonic

Maternal

frameshift insertion

NM_017539

c.10907_10908insT

p.P3636fs

-

Cirnigliaro2023 G

DNAH3

Li2017:19783

chr16:
21011804-21011804

G

A

exonic

Unknown

nonsynonymous SNV

NM_017539

c.C6163T

p.R2055W

20.0

4.243E-5

Li2017 T

DNAH3

mAGRE3012

chr16:
20966298-20966298

G

GA

exonic

Maternal

frameshift insertion

NM_017539

c.10907_10908insT

p.P3636fs

-

Cirnigliaro2023 G

DNAH3

08C72260

chr16:
20996803-20996803

G

A

exonic

De novo

nonsynonymous SNV

NM_017539

c.C7261T

p.R2421C

17.58

5.767E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAH3

1004

chr16:
21025501-21025501

A

T

intronic

De novo

-

Trost2022 G

DNAH3

10-1019-003

chr16:
21051050-21051050

A

T

intronic

De novo

-

Trost2022 G

DNAH3

3-0398-000

chr16:
21000567-21000567

A

G

intronic

De novo

-

Trost2022 G

DNAH3

REACH000435

chr16:
21004942-21004942

T

G

intronic

De novo

-

Trost2022 G

DNAH3

MSSNG00407-003

chr16:
20999612-20999612

G

T

intronic

De novo

-

Trost2022 G

DNAH3

AU2442301

chr16:
21000399-21000399

A

G

intronic

De novo

-

Trost2022 G

DNAH3

mAGRE1746

chr16:
21170658-21170662

CCCTT

C

exonic

Maternal

frameshift deletion

NM_017539

c.101_104del

p.E34fs

-

4.942E-5

Cirnigliaro2023 G

DNAH3

iHART2171

chr16:
21080753-21080754

AT

A

exonic

Maternal

frameshift deletion

NM_017539

c.3363delA

p.K1121fs

-

8.238E-6

Ruzzo2019 G

DNAH3

iHART2449

chr16:
21061005-21061005

T

G

splicing

Paternal

splicing

24.1

4.121E-5

Ruzzo2019 G

DNAH3

iHART1746

chr16:
21170658-21170662

CCCTT

C

exonic

Maternal

frameshift deletion

NM_017539

c.101_104del

p.E34fs

-

4.942E-5

Ruzzo2019 G

DNAH3

AU002903

chr16:
21023603-21023603

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH3

iHART2458

chr16:
21136606-21136606

G

A

exonic

Paternal

stopgain

NM_017539

c.C1294T

p.R432X

16.42

8.251E-6

Ruzzo2019 G

DNAH3

iHART3013

chr16:
20966298-20966298

G

GA

exonic

Maternal

frameshift insertion

NM_017539

c.10907_10908insT

p.P3636fs

-

Ruzzo2019 G

DNAH3

SSC00193

chr16:
21038393-21038393

G

A

exonic

De novo

synonymous SNV

NM_017539

c.C5496T

p.F1832F

-

Fu2022 E

DNAH3

Li2017:45

chr16:
20966299-20966299

G

T

exonic

Unknown

nonsynonymous SNV

NM_017539

c.C10907A

p.P3636H

27.8

2.0E-4

Li2017 T

DNAH3

iHART3014

chr16:
20966298-20966298

G

GA

exonic

Maternal

frameshift insertion

NM_017539

c.10907_10908insT

p.P3636fs

-

Ruzzo2019 G

DNAH3

Li2017:20261

chr16:
20981203-20981203

T

G

exonic

Unknown

nonsynonymous SNV

NM_017539

c.A8369C

p.N2790T

19.35

-

Li2017 T

DNAH3

iHART3011

chr16:
20966298-20966298

G

GA

exonic

Maternal

frameshift insertion

NM_017539

c.10907_10908insT

p.P3636fs

-

Ruzzo2019 G

DNAH3

iHART3012

chr16:
20966298-20966298

G

GA

exonic

Maternal

frameshift insertion

NM_017539

c.10907_10908insT

p.P3636fs

-

Ruzzo2019 G

DNAH3

Li2017:20272

chr16:
21042525-21042525

C

G

exonic

Unknown

nonsynonymous SNV

NM_017539

c.G5281C

p.D1761H

29.3

-

Li2017 T

DNAH3

Li2017:20294

chr16:
21049265-21049265

A

G

exonic

Unknown

nonsynonymous SNV

NM_017539

c.T4768C

p.S1590P

32.0

8.299E-6

Li2017 T

DNAH3

PN400379

chr16:
21145677-21145678

AG

A

exonic

Unknown

frameshift deletion

NM_017539

c.984delC

p.P328fs

-

Leblond2019 E

DNAH3

Li2017:15021

chr16:
20970602-20970602

C

T

exonic

Unknown

stopgain

NM_017539

c.G10725A

p.W3575X

52.0

8.237E-6

Li2017 T

DNAH3

2-1415-004

chr16:
21079079-21079079

G

GA

intronic

De novo

-

Yuen2017 G

DNAH3

SP0034120

chr16:
20990804-20990804

T

C

exonic

De novo

nonsynonymous SNV

NM_017539

c.A7924G

p.K2642E

0.027

-

Feliciano2019 E
Fu2022 E
Zhou2022 GE

DNAH3

Li2017:15061

chr16:
20996534-20996534

G

T

exonic

Unknown

nonsynonymous SNV

NM_017539

c.C7530A

p.N2510K

20.5

-

Li2017 T

DNAH3

Li2017:18393

chr16:
20999014-20999014

C

T

splicing

Unknown

splicing

23.6

-

Li2017 T

DNAH3

1-0332-003

chr16:
21142960-21142960

C

T

intronic

De novo

-

Yuen2017 G

DNAH3

11882-1

chr16:
21078568-21078568

G

A

intronic

De novo

-

Fu2022 E

DNAH3

PN400415

chr16:
20959917-20959917

C

T

exonic

Unknown

nonsynonymous SNV

NM_017539

c.G11231A

p.R3744Q

37.0

1.0E-4

Leblond2019 E

DNAH3

Li2017:15102

chr16:
21098183-21098183

C

T

exonic

Unknown

nonsynonymous SNV

NM_017539

c.G2864A

p.R955Q

35.0

2.472E-5

Li2017 T

DNAH3

1-0180-004

chr16:
21142915-21142915

A

C

intronic

De novo

-

Yuen2017 G

DNAH3

G01-GEA-151-MA

chr16:
20996534-20996534

G

A

exonic

De novo

synonymous SNV

NM_017539

c.C7530T

p.N2510N

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAH3

AU1668302

chr16:
21033988-21033988

T

G

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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