Variant Results

or

Results for "MYH10"

Variant Events: 29

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

MYH10

2-1339-003

chr17:
8576686-8576686

G

T

intergenic

De novo

-

Yuen2017 G

MYH10

2-1409-003

chr17:
8530577-8530577

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MYH10

2-0306-004

chr17:
8376623-8376629

GCCCCCC

GCCC

downstream

De novo

-

Yuen2017 G

MYH10

4902

chr17:
8457299-8457299

T

C

exonic

De novo

nonsynonymous SNV

NM_005964
NM_001256012
NM_001256095

c.A764G
c.A794G
c.A791G

p.Y255C
p.Y265C
p.Y264C

21.8

-

Fu2022 E

MYH10

13742.p1

chr17:
8457299-8457299

T

C

exonic

De novo

nonsynonymous SNV

NM_005964
NM_001256012
NM_001256095

c.A764G
c.A794G
c.A791G

p.Y255C
p.Y265C
p.Y264C

21.8

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G

MYH10

11516.p1

chr17:
8526323-8526323

G

A

exonic

De novo

nonsynonymous SNV

NM_001256012
NM_001256095
NM_005964

c.C242T
c.C242T
c.C242T

p.P81L
p.P81L
p.P81L

26.5

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

MYH10

2-1114-003

chr17:
8475903-8475903

A

G

intronic

De novo

-

Yuen2017 G

MYH10

AU2022302

chr17:
8379739-8379739

C

T

intronic

De novo

-

Yuen2017 G

MYH10

11000.p1

chr17:
8393904-8393904

G

A

intronic

De novo

-

2.51E-5

Satterstrom2020 E

MYH10

AU061104

chr17:
8543822-8543822

A

C

intergenic

De novo

-

Yuen2017 G

MYH10

AU3782303

chr17:
8423442-8423442

C

A

intronic

De novo

-

Yuen2017 G

MYH10

13000.p1

chr17:
8424204-8424205

GA

G

exonic

De novo

frameshift deletion

NM_005964
NM_001256095
NM_001256012

c.2171delT
c.2198delT
c.2264delT

p.F724fs
p.F733fs
p.F755fs

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E

MYH10

2-1357-003

chr17:
8398199-8398199

G

A

intronic

De novo

-

Yuen2017 G

MYH10

DEASD_0259_001

chr17:
8393903-8393903

C

T

intronic

De novo

-

4.182E-5

Kosmicki2017 E
Satterstrom2020 E

MYH10

SSC09447

chr17:
8457299-8457299

T

C

exonic

nonsynonymous SNV

NM_005964
NM_001256012
NM_001256095

c.A764G
c.A794G
c.A791G

p.Y255C
p.Y265C
p.Y264C

21.8

-

Antaki2022 GE

MYH10

SSC07099

chr17:
8424204-8424205

GA

G

exonic

De novo

frameshift deletion

NM_005964
NM_001256095
NM_001256012

c.2171delT
c.2198delT
c.2264delT

p.F724fs
p.F733fs
p.F755fs

-

Antaki2022 GE
Fu2022 E

MYH10

AU003405

chr17:
8453196-8453196

C

T

intronic

De novo

-

Yuen2017 G

MYH10

SP0070186

chr17:
8409683-8409683

C

A

exonic

De novo

nonsynonymous SNV

NM_005964
NM_001256095
NM_001256012

c.G3246T
c.G3273T
c.G3339T

p.K1082N
p.K1091N
p.K1113N

17.21

-

Antaki2022 GE
Fu2022 E

MYH10

AU074503

chr17:
8423368-8423368

C

T

intronic

De novo

-

Yuen2017 G

MYH10

SSC00932

chr17:
8526323-8526323

G

A

exonic

De novo

nonsynonymous SNV

NM_001256012
NM_001256095
NM_005964

c.C242T
c.C242T
c.C242T

p.P81L
p.P81L
p.P81L

26.5

-

Fu2022 E
Lim2017 E

MYH10

1-0534-006

chr17:
8578596-8578596

C

T

intergenic

De novo

-

Yuen2017 G

MYH10

2-0272-004

chr17:
8562245-8562245

C

T

intergenic

De novo

-

Yuen2017 G

MYH10

Lim2017:4902

chr17:
8457299-8457299

T

C

exonic

De novo

nonsynonymous SNV

NM_005964
NM_001256012
NM_001256095

c.A764G
c.A794G
c.A791G

p.Y255C
p.Y265C
p.Y264C

21.8

-

Lim2017 E

MYH10

3-0428-000

chr17:
8412498-8412498

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MYH10

SP0067018

chr17:
8384748-8384748

T

C

intronic

De novo

-

Fu2022 E

MYH10

SP0028756

chr17:
8380301-8380301

C

T

exonic

De novo

synonymous SNV

NM_005964
NM_001256095
NM_001256012

c.G5679A
c.G5706A
c.G5772A

p.A1893A
p.A1902A
p.A1924A

-

2.0E-4

Fu2022 E

MYH10

2-0306-003

chr17:
8376623-8376626

GCCC

G

downstream

De novo

-

Yuen2016 G

MYH10

1-0019-004

chr17:
8414449-8414449

T

TAC

intronic

De novo

-

Yuen2017 G

MYH10

DEASD_4036_001

chr17:
8396951-8396951

A

T

intronic

De novo

-

Fu2022 E

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