Variant Results

or

Results for "DNAH9"

Variant Events: 60

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

DNAH9

7-0429-003

chr17:
11808981-11808981

T

G

exonic

De novo

nonsynonymous SNV

NM_004662
NM_001372

c.T540G
c.T11604G

p.D180E
p.D3868E

7.912

-

Trost2022 G
Zhou2022 GE

DNAH9

MSSNG00436-003

chr17:
11502198-11502198

C

G

exonic

De novo

nonsynonymous SNV

NM_001372

c.C383G

p.A128G

2.626

-

Trost2022 G
Zhou2022 GE

DNAH9

2-1790-003

chr17:
11840793-11840793

G

A

exonic

De novo

nonsynonymous SNV

NM_004662
NM_001372

c.G1550A
c.G12614A

p.R517Q
p.R4205Q

14.71

1.651E-5

Trost2022 G
Zhou2022 GE

DNAH9

1-0715-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

DNAH9

AU3605304

chr17:
11710640-11710640

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH9

3-0432-000

chr17:
11538088-11538088

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DNAH9

3-0134-000

chr17:
11790666-11790666

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH9

AU4260303

chr17:
11512709-11512709

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH9

2-1330-003

chr17:
11534286-11534286

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH9

12235.p1

chr17:
11790177-11790177

C

T

exonic

De novo

synonymous SNV

NM_001372

c.C11007T

p.N3669N

-

9.091E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAH9

12383.p1

chr17:
11806196-11806196

C

T

exonic

De novo

nonsynonymous SNV

NM_004662
NM_001372

c.C503T
c.C11567T

p.A168V
p.A3856V

15.47

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

DNAH9

2-1428-003

chr17:
11673513-11673513

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH9

1-0871-003

chr17:
11623673-11623673

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH9

1-0568-003

chr17:
11708573-11708578

TCAAAC

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH9

mAGRE2430

chr17:
11784550-11784552

ATG

A

exonic

Paternal

frameshift deletion

NM_001372

c.10627_10628del

p.C3543fs

-

Cirnigliaro2023 G

DNAH9

mAGRE2429

chr17:
11784550-11784552

ATG

A

exonic

Paternal

frameshift deletion

NM_001372

c.10627_10628del

p.C3543fs

-

Cirnigliaro2023 G

DNAH9

3-0431-000

chr17:
11875748-11875748

T

C

intergenic

De novo

-

Yuen2017 G

DNAH9

mAGRE3003

chr17:
11631241-11631241

T

G

splicing

Maternal

splicing

19.43

-

Cirnigliaro2023 G

DNAH9

mAGRE4070

chr17:
11597289-11597289

T

G

exonic

Paternal

stopgain

NM_001372

c.T4719G

p.Y1573X

44.0

2.0E-4

Cirnigliaro2023 G

DNAH9

AU2333302

chr17:
11729646-11729646

T

C

intronic

De novo

-

Yuen2017 G

DNAH9

12235_p1

chr17:
11790177-11790177

C

T

exonic

De novo

synonymous SNV

NM_001372

c.C11007T

p.N3669N

-

9.091E-5

Fu2022 E

DNAH9

mAGRE5905

chr17:
11797742-11797742

C

T

exonic

Paternal

stopgain

NM_004662
NM_001372

c.C271T
c.C11335T

p.R91X
p.R3779X

53.0

2.473E-5

Cirnigliaro2023 G

DNAH9

mAGRE2431

chr17:
11784550-11784552

ATG

A

exonic

Paternal

frameshift deletion

NM_001372

c.10627_10628del

p.C3543fs

-

Cirnigliaro2023 G

DNAH9

AU2950301

chr17:
11558018-11558018

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH9

SP0030722

chr17:
11795141-11795141

C

G

exonic

De novo

nonsynonymous SNV

NM_004662
NM_001372

c.C96G
c.C11160G

p.D32E
p.D3720E

0.941

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH9

4-0022-003

chr17:
11550020-11550020

C

T

intronic

De novo

-

Trost2022 G

DNAH9

SP0065631

chr17:
11738275-11738275

C

T

intronic

De novo

-

Fu2022 E

DNAH9

REACH000026

chr17:
11644574-11644575

AT

A

intronic

De novo

-

Trost2022 G

DNAH9

7-0240-004

chr17:
11656845-11656845

G

A

intronic

De novo

-

Trost2022 G

DNAH9

AU4013301

chr17:
11776526-11776526

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH9

3-0199-000

chr17:
11609160-11609160

T

C

intronic

De novo

-

Trost2022 G

DNAH9

5-5180-003

chr17:
11630398-11630398

G

A

intronic

De novo

-

Trost2022 G

DNAH9

MSSNG00431-003

chr17:
11581545-11581545

T

C

intronic

De novo

-

Trost2022 G

DNAH9

AU2463301

chr17:
11606887-11606887

C

T

intronic

De novo

-

Trost2022 G

DNAH9

2-1535-003

chr17:
11566367-11566367

C

A

intronic

De novo

-

Trost2022 G

DNAH9

2-1766-003

chr17:
11580373-11580373

G

A

intronic

De novo

-

Trost2022 G

DNAH9

MT_69.4

chr17:
11859765-11859765

A

G

intronic

De novo

-

Trost2022 G

DNAH9

200675257_1082034415

chr17:
11572851-11572851

C

T

exonic

De novo

synonymous SNV

NM_001372

c.C3093T

p.Y1031Y

-

2.471E-5

Fu2022 E

DNAH9

08C73987

chr17:
11696790-11696790

G

A

intronic

De novo

-

1.0E-4

Satterstrom2020 E
Trost2022 G

DNAH9

MSSNG00201-003

chr17:
11796523-11796523

A

C

intronic

De novo

-

Trost2022 G

DNAH9

2-0112-005

chr17:
11810663-11810663

T

G

intronic

De novo

-

Trost2022 G

DNAH9

SP0045336

chr17:
11772540-11772540

C

T

exonic

De novo

synonymous SNV

NM_001372

c.C10023T

p.T3341T

-

1.0E-4

Trost2022 G

DNAH9

REACH000731

chr17:
11776788-11776788

T

G

intronic

De novo

-

Trost2022 G

DNAH9

AU2023302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

DNAH9

13444.p1

chr17:
11526716-11526717

TG

T

intronic

Unknown

-

Werling2018 G

DNAH9

08C71716

chr17:
11554451-11554451

A

G

exonic

De novo

synonymous SNV

NM_001372

c.A2163G

p.T721T

-

Fu2022 E

DNAH9

7-0332-003

chr17:
11711448-11711448

G

A

intronic

De novo

-

Trost2022 G

DNAH9

1-0248-003

chr17:
11515169-11515172

CTGT

CT

intronic

De novo

-

Yuen2017 G

DNAH9

GEA379

chr17:
11607595-11607595

G

A

exonic

De novo

nonsynonymous SNV

NM_001372

c.G5227A

p.E1743K

34.0

-

Fu2022 E

DNAH9

AU2231301

chr17:
11720651-11720651

G

A

intronic

De novo

-

Trost2022 G

DNAH9

AU003405

chr17:
11782270-11782270

A

G

intronic

De novo

-

Yuen2017 G

DNAH9

Cukier2014:7590

chr17:
11840819-11840819

G

T

exonic

Unknown

nonsynonymous SNV

NM_004662
NM_001372

c.G1576T
c.G12640T

p.G526C
p.G4214C

16.99

0.0024

Cukier2014 E

DNAH9

AU3646301

chr17:
11738641-11738641

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH9

2-1402-003

chr17:
11841346-11841346

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH9

iHART3003

chr17:
11631241-11631241

T

G

splicing

Maternal

splicing

19.43

-

Ruzzo2019 G

DNAH9

200675257@1082034415

chr17:
11572851-11572851

C

T

exonic

De novo

synonymous SNV

NM_001372

c.C3093T

p.Y1031Y

-

2.471E-5

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAH9

iHART2429

chr17:
11784550-11784552

ATG

A

exonic

Paternal

frameshift deletion

NM_001372

c.10627_10628del

p.C3543fs

-

Ruzzo2019 G

DNAH9

iHART2431

chr17:
11784550-11784552

ATG

A

exonic

Paternal

frameshift deletion

NM_001372

c.10627_10628del

p.C3543fs

-

Ruzzo2019 G

DNAH9

SSC04464

chr17:
11806196-11806196

C

T

exonic

Mosaic, De novo

nonsynonymous SNV

NM_004662
NM_001372

c.C503T
c.C11567T

p.A168V
p.A3856V

15.47

-

Lim2017 E
Trost2022 G

DNAH9

iHART2430

chr17:
11784550-11784552

ATG

A

exonic

Paternal

frameshift deletion

NM_001372

c.10627_10628del

p.C3543fs

-

Ruzzo2019 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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