Variant Results

or

Results for "DNAH10"

Variant Events: 40

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

DNAH10

ASC_18D953

chr12:
124366229-124366229

G

A

exonic

De novo

nonsynonymous SNV

NM_207437

c.G8338A

p.D2780N

20.2

-

Fu2022 E

DNAH10

DEASD_2049_002

chr12:
124278540-124278540

C

T

intronic

De novo

-

Fu2022 E

DNAH10

1-0834-003

chr12:
124299670-124299670

C

A

intronic

De novo

-

Yuen2017 G

DNAH10

AU3702306

chr12:
124358139-124358139

C

T

exonic

De novo

nonsynonymous SNV

NM_207437

c.C7466T

p.T2489M

29.2

4.177E-5

Yuen2017 G

DNAH10

13293.p1

chr12:
124377792-124377792

C

T

exonic

De novo

nonsynonymous SNV

NM_207437

c.C8654T

p.A2885V

27.8

5.117E-5

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

DNAH10

3-0027-001

chr12:
124383277-124383277

C

A

exonic

De novo

nonsynonymous SNV

NM_207437

c.C9202A

p.L3068M

18.33

-

Yuen2015 G

DNAH10

SP0026495

chr12:
124399464-124399464

C

T

exonic

De novo

nonsynonymous SNV

NM_207437

c.C10286T

p.A3429V

29.6

-

Fu2022 E

DNAH10

14248.p1

chr12:
124303750-124303750

G

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_207437

c.G3599A

p.R1200H

18.06

9.211E-6

Ji2016 E
Krumm2015 E
Krupp2017 E
Satterstrom2020 E

DNAH10

3-0027-001

chr12:
124382336-124382336

G

A

exonic

De novo

synonymous SNV

NM_207437

c.G8946A

p.P2982P

-

1.66E-5

Yuen2015 G

DNAH10

SP0040263

chr12:
124395303-124395303

A

AGGG

intronic

De novo

-

Fu2022 E

DNAH10

SP0005528

chr12:
124355967-124355967

G

A

intronic

De novo

-

Fu2022 E

DNAH10

SP0097493

chr12:
124409041-124409041

A

C

intronic

De novo

-

Fu2022 E

DNAH10

SP0072844

chr12:
124399389-124399389

T

A

intronic

De novo

-

Fu2022 E

DNAH10

SP0051072

chr12:
124270564-124270564

T

TGTTTAAG

intronic

De novo

-

Fu2022 E

DNAH10

SP0057026

chr12:
124293358-124293358

T

C

exonic

De novo

nonsynonymous SNV

NM_207437

c.T2648C

p.F883S

14.59

-

Fu2022 E

DNAH10

SP0116686

chr12:
124305068-124305068

T

C

intronic

De novo

-

Fu2022 E

DNAH10

SP0124014

chr12:
124278597-124278597

G

A

intronic

De novo

-

8.173E-5

Fu2022 E

DNAH10

iHART1547

chr12:
124416338-124416338

G

T

exonic

Paternal

stopgain

NM_207437

c.G12718T

p.E4240X

55.0

2.0E-4

Ruzzo2019 G

DNAH10

PN400367

chr12:
124393848-124393848

G

A

exonic

Unknown

nonsynonymous SNV

NM_207437

c.G9502A

p.E3168K

37.0

-

Leblond2019 E

DNAH10

AU066818

chr12:
124287179-124287179

T

A

intronic

De novo

-

Yuen2017 G

DNAH10

iHART2515

chr12:
124284802-124284802

G

T

exonic

Maternal

stopgain

NM_207437

c.G1975T

p.G659X

36.0

-

Ruzzo2019 G

DNAH10

SP0145800

chr12:
124413180-124413180

A

C

intronic

De novo

-

Fu2022 E

DNAH10

SP0074176

chr12:
124411410-124411410

G

T

intronic

De novo

-

Fu2022 E

DNAH10

iHART1459

chr12:
124364349-124364349

G

T

splicing

Paternal

splicing

25.9

4.173E-5

Ruzzo2019 G

DNAH10

iHART1457

chr12:
124364349-124364349

G

T

splicing

Paternal

splicing

25.9

4.173E-5

Ruzzo2019 G

DNAH10

Cukier2014:7936

chr12:
124356105-124356105

G

T

exonic

Unknown

nonsynonymous SNV

NM_207437

c.G7387T

p.A2463S

31.0

-

Cukier2014 E

DNAH10

AU4183301

chr12:
124269563-124269563

T

A

intronic

De novo

-

Yuen2017 G

DNAH10

Cukier2014:7936

chr12:
124401027-124401027

C

A

exonic

Unknown

nonsynonymous SNV

NM_207437

c.C10392A

p.D3464E

18.1

0.0116

Cukier2014 E

DNAH10

80001100931

chr12:
124413877-124413877

A

G

exonic

De novo

nonsynonymous SNV

NM_207437

c.A12008G

p.K4003R

18.65

4.466E-5

Fu2022 E
Satterstrom2020 E

DNAH10

10C117842

chr12:
124362265-124362265

T

G

intronic

De novo

-

8.982E-5

Satterstrom2020 E

DNAH10

Viggiano2022:22.3

chr12:
124323008-124323008

G

A

exonic

Paternal

nonsynonymous SNV

NM_207437

c.G4554A

p.M1518I

24.1

1.035E-5

Viggiano2022 GT

DNAH10

Viggiano2022:22.4

chr12:
124323008-124323008

G

A

exonic

Paternal

nonsynonymous SNV

NM_207437

c.G4554A

p.M1518I

24.1

1.035E-5

Viggiano2022 GT

DNAH10

3-0431-000

chr12:
124371625-124371627

CGG

CGGG

intronic

De novo

-

Yuen2017 G

DNAH10

14273.p1

chr12:
124289434-124289434

A

T

exonic

De novo

nonsynonymous SNV

NM_207437

c.A2480T

p.H827L

11.43

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

DNAH10

Lim2017:36058

chr12:
124303750-124303750

G

A

exonic

Mosaic

nonsynonymous SNV

NM_207437

c.G3599A

p.R1200H

18.06

9.211E-6

Lim2017 E

DNAH10

SSC11222

chr12:
124289434-124289434

A

T

exonic

De novo

nonsynonymous SNV

NM_207437

c.A2480T

p.H827L

11.43

-

Fu2022 E
Lim2017 E

DNAH10

AU046904

chr12:
124369577-124369577

A

G

intronic

De novo

-

Yuen2017 G

DNAH10

F10043-1

chr12:
124330358-124330364

ACTGTTC

A

exonic

De novo

nonframeshift deletion

NM_207437

c.5219_5224del

p.1740_1742del

-

Fu2022 E
Satterstrom2020 E

DNAH10

SSC08042

chr12:
124377792-124377792

C

T

exonic

De novo

nonsynonymous SNV

NM_207437

c.C8654T

p.A2885V

27.8

5.117E-5

Fu2022 E
Lim2017 E

DNAH10

2-0102-003

chr12:
124413069-124413069

C

T

exonic

De novo

nonsynonymous SNV

NM_207437

c.C11887T

p.R3963C

33.0

2.344E-5

Yuen2015 G
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
	More