Variant Results

or

Results for "DNAH5"

Variant Events: 65

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

DNAH5

2-1089-004

chr5:
13780121-13780121

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH5

2-1411-003

chr5:
13774602-13774602

G

A

intronic

De novo

-

Yuen2017 G

DNAH5

2-1180-003

chr5:
13714585-13714585

G

A

exonic

De novo

nonsynonymous SNV

NM_001369

c.C13054T

p.R4352W

16.8

8.246E-6

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

DNAH5

1-0368-004

chr5:
13888762-13888762

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH5

11610.p1

chr5:
13923403-13923404

CA

C

exonic

De novo

frameshift deletion

NM_001369

c.423delT

p.P141fs

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

DNAH5

2-0210-005

chr5:
14098768-14098768

G

C

intergenic

De novo

-

Yuen2017 G

DNAH5

mAGRE1295

chr5:
13701425-13701425

T

TA

exonic

Maternal

stopgain

NM_001369

c.13458dupT

p.N4487_P4488delinsX

-

5.783E-5

Cirnigliaro2023 G

DNAH5

1-0452-003

chr5:
13797467-13797481

AAAACAAACAAACAA

AAAACAAACAA

intronic

De novo

-

Yuen2017 G

DNAH5

AU057404

chr5:
14103259-14103259

T

C

intergenic

De novo

-

Yuen2017 G

DNAH5

AU3811305

chr5:
14096604-14096604

A

G

intergenic

De novo

-

Yuen2017 G

DNAH5

mAGRE2383

chr5:
13944490-13944490

C

T

splicing

Maternal

splicing

19.57

-

Cirnigliaro2023 G

DNAH5

AU050604

chr5:
13925667-13925667

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH5

mAGRE2382

chr5:
13944490-13944490

C

T

splicing

Maternal

splicing

19.57

-

Cirnigliaro2023 G

DNAH5

A14

chr5:
14112232-14112232

T

G

intergenic

De novo

-

Wu2018 G

DNAH5

mAGRE6236

chr5:
13900372-13900372

C

CAG

exonic

Maternal

frameshift insertion

NM_001369

c.2201_2202insCT

p.L734fs

-

Cirnigliaro2023 G

DNAH5

mAGRE4292

chr5:
13727753-13727753

C

A

exonic

Paternal

stopgain

NM_001369

c.G11896T

p.E3966X

54.0

-

Cirnigliaro2023 G

DNAH5

SP0053482

chr5:
13830776-13830776

G

A

exonic

De novo

synonymous SNV

NM_001369

c.C5991T

p.L1997L

-

9.063E-5

Fu2022 E
Zhou2022 GE

DNAH5

SP0065956

chr5:
13830140-13830140

T

C

exonic

De novo

nonsynonymous SNV

NM_001369

c.A6244G

p.T2082A

24.2

8.285E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH5

2-1085-004

chr5:
13721815-13721815

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH5

SP0005693

chr5:
13862640-13862640

A

T

intronic

De novo

-

Fu2022 E
Trost2022 G

DNAH5

SP0015363

chr5:
13793593-13793593

C

T

intronic

De novo

-

Fu2022 E

DNAH5

AU3849302

chr5:
13990619-13990619

A

G

intergenic

De novo

-

Yuen2017 G

DNAH5

SP0033860

chr5:
13829782-13829782

G

C

exonic

De novo

nonsynonymous SNV

NM_001369

c.C6281G

p.P2094R

23.5

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH5

1-0080-003

chr5:
13736182-13736182

C

T

intronic

De novo

-

Yuen2017 G

DNAH5

AU005213

chr5:
13721865-13721865

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH5

SP0070264

chr5:
13829636-13829636

C

G

exonic

De novo

nonsynonymous SNV

NM_001369

c.G6427C

p.E2143Q

23.1

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH5

SP0077172

chr5:
13719110-13719110

C

T

exonic

De novo

nonsynonymous SNV

NM_001369

c.G12380A

p.R4127H

16.8

7.432E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH5

SP0073901

chr5:
13864470-13864470

T

G

intronic

De novo

-

Fu2022 E

DNAH5

2-1508-004

chr5:
13727997-13727997

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH5

Wang2023:317

chr5:
13716696-13716696

A

T

exonic

De novo

nonsynonymous SNV

NM_001369

c.T12809A

p.V4270D

25.2

-

Wang2023 E

DNAH5

SSC03542

chr5:
13830776-13830776

G

A

exonic

De novo

synonymous SNV

NM_001369

c.C5991T

p.L1997L

-

9.063E-5

Fu2022 E
Trost2022 G

DNAH5

13999.p1

chr5:
13762918-13762918

G

A

exonic

De novo

synonymous SNV

NM_001369

c.C10194T

p.R3398R

-

1.649E-5

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAH5

13999_p1

chr5:
13762918-13762918

G

A

exonic

De novo

synonymous SNV

NM_001369

c.C10194T

p.R3398R

-

1.649E-5

Fu2022 E

DNAH5

11970.p1

chr5:
13830776-13830776

G

A

exonic

De novo

synonymous SNV

NM_001369

c.C5991T

p.L1997L

-

9.063E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

DNAH5

11010.p1

chr5:
13883123-13883123

C

T

exonic

De novo

nonsynonymous SNV

NM_001369

c.G3064A

p.V1022I

11.41

3.295E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

DNAH5

SSC02852

chr5:
13883123-13883123

C

T

exonic

De novo

nonsynonymous SNV

NM_001369

c.G3064A

p.V1022I

11.41

3.295E-5

Fu2022 E
Trost2022 G

DNAH5

AU050603

chr5:
13751690-13751690

G

A

intronic

De novo

-

Yuen2017 G

DNAH5

AU3889305

chr5:
14095643-14095643

T

G

intergenic

De novo

-

Yuen2017 G

DNAH5

11610_p1

chr5:
13923403-13923404

CA

C

exonic

De novo

frameshift deletion

NM_001369

c.423delT

p.P141fs

-

Fu2022 E

DNAH5

1-0715-003

chr5:
13894298-13894298

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH5

SP0098765

chr5:
13841921-13841921

C

T

exonic

stopgain

NM_001369

c.G5364A

p.W1788X

47.0

-

Zhou2022 GE

DNAH5

14655.p1

chr5:
13788996-13788996

A

G

exonic

nonsynonymous SNV

NM_001369

c.T8476C

p.C2826R

19.5

-

Zhou2022 GE

DNAH5

AU1725302

chr5:
14019795-14019796

AG

A

intergenic

De novo

-

Yuen2017 G

DNAH5

iHART2383

chr5:
13944490-13944490

C

T

splicing

Maternal

splicing

19.57

-

Ruzzo2019 G

DNAH5

iHART2382

chr5:
13944490-13944490

C

T

splicing

Maternal

splicing

19.57

-

Ruzzo2019 G

DNAH5

5-0077-004

chr5:
14084590-14084590

A

G

intergenic

De novo

-

Yuen2017 G

DNAH5

iHART1295

chr5:
13701425-13701425

T

TA

exonic

Maternal

stopgain

NM_001369

c.13458dupT

p.N4487_P4488delinsX

-

5.783E-5

Ruzzo2019 G

DNAH5

SP0026933

chr5:
13922289-13922289

C

T

exonic

Mosaic

nonsynonymous SNV

NM_001369

c.G587A

p.R196H

9.714

2.474E-5

Feliciano2019 E

DNAH5

176_19au

chr5:
13898456-13898456

T

C

intronic

De novo

-

Fu2022 E

DNAH5

2-1642-003A

chr5:
13820722-13820722

A

G

intronic

De novo

-

Trost2022 G

DNAH5

AU2318301

chr5:
13869396-13869396

T

C

intronic

De novo

-

Trost2022 G

DNAH5

2-1091-003

chr5:
13783301-13783301

C

T

intronic

De novo

-

Trost2022 G

DNAH5

MSSNG00433-003

chr5:
13786699-13786699

G

A

intronic

De novo

-

Trost2022 G

DNAH5

5-5171-003

chr5:
13763963-13763963

G

A

intronic

De novo

-

Trost2022 G

DNAH5

7-0461-004

chr5:
13767217-13767217

A

G

intronic

De novo

-

Trost2022 G

DNAH5

MT_17.3

chr5:
13743006-13743006

T

C

intronic

De novo

-

Trost2022 G

DNAH5

2-0307-003

chr5:
13961198-13961198

G

C

intergenic

De novo

-

Yuen2017 G

DNAH5

2-1466-003

chr5:
14078454-14078454

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

DNAH5

Codina-Sola2015:ASD_28

chr5:
13859690-13859690

C

A

exonic

Maternal

nonsynonymous SNV

NM_001369

c.G4821T

p.Q1607H

13.14

7.414E-5

Codina-Sola2015 E

DNAH5

1-0998-003

chr5:
14011423-14011423

G

A

intergenic

De novo

-

Yuen2017 G

DNAH5

SP0116146

chr5:
13920606-13920606

T

C

exonic

De novo

nonsynonymous SNV

NM_001369

c.A781G

p.I261V

13.18

-

Trost2022 G

DNAH5

2-1744-003

chr5:
13888048-13888048

C

A

intronic

De novo

-

Trost2022 G

DNAH5

AU2794301

chr5:
13903321-13903323

AAT

A

intronic

De novo

-

Trost2022 G

DNAH5

1-0445-003

chr5:
13781441-13781441

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH5

09C85587

chr5:
13817649-13817649

T

C

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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