Variant Results

or

Results for "MYH14"

Variant Events: 31

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

MYH14

AU072004

chr19:
50757727-50757728

TA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYH14

AU076509

chr19:
50762472-50762472

C

G

exonic

De novo

nonsynonymous SNV

NM_024729
NM_001077186
NM_001145809

c.C2181G
c.C2205G
c.C2304G

p.I727M
p.I735M
p.I768M

18.68

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

MYH14

041-07-107684

chr19:
50747508-50747508

G

A

exonic

De novo

nonsynonymous SNV

NM_024729
NM_001077186
NM_001145809

c.G1100A
c.G1124A
c.G1124A

p.R367Q
p.R375Q
p.R375Q

15.39

8.338E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYH14

5905

chr19:
50764897-50764897

G

C

intronic

De novo

-

Fu2022 E

MYH14

1-0486-003

chr19:
50764133-50764133

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYH14

Kim2020:A3

chr19:
50760600-50760600

G

A

exonic

De novo

nonsynonymous SNV

NM_024729
NM_001077186
NM_001145809

c.G1966A
c.G1990A
c.G2089A

p.G656S
p.G664S
p.G697S

6.915

7.16E-5

Kim2020 E

MYH14

13720.p1

chr19:
50783305-50783305

G

T

exonic

Mosaic

nonsynonymous SNV

NM_024729
NM_001077186
NM_001145809

c.G3921T
c.G3945T
c.G4044T

p.E1307D
p.E1315D
p.E1348D

3.401

-

Dou2017 E
Krupp2017 E

MYH14

04C35710

chr19:
50792805-50792805

G

C

exonic

De novo

nonsynonymous SNV

NM_024729
NM_001077186
NM_001145809

c.G4742C
c.G4766C
c.G4865C

p.R1581P
p.R1589P
p.R1622P

23.7

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYH14

11703.p1

chr19:
50753076-50753076

G

A

exonic

Mosaic

nonsynonymous SNV

NM_024729
NM_001077186
NM_001145809

c.G1628A
c.G1652A
c.G1652A

p.R543Q
p.R551Q
p.R551Q

18.79

-

Krupp2017 E

MYH14

PN400533

chr19:
50774730-50774730

C

T

exonic

Unknown

nonsynonymous SNV

NM_024729
NM_001077186
NM_001145809

c.C2975T
c.C2999T
c.C3098T

p.T992M
p.T1000M
p.T1033M

17.32

3.0E-4

Leblond2019 E

MYH14

2-1784-003

chr19:
50750526-50750526

G

A

intronic

De novo

-

Trost2022 G

MYH14

MSSNG00414-003

chr19:
50737473-50737473

C

T

intronic

De novo

-

Trost2022 G

MYH14

MSSNG00345-003

chr19:
50734090-50734090

C

G

intronic

De novo

-

Trost2022 G

MYH14

10-1127-003A

chr19:
50718042-50718042

G

A

intronic

De novo

-

Trost2022 G

MYH14

PN400321

chr19:
50774730-50774730

C

T

exonic

Unknown

nonsynonymous SNV

NM_024729
NM_001077186
NM_001145809

c.C2975T
c.C2999T
c.C3098T

p.T992M
p.T1000M
p.T1033M

17.32

3.0E-4

Leblond2019 E

MYH14

SP0025514

chr19:
50758575-50758575

G

C

exonic

De novo

nonsynonymous SNV

NM_001145809

c.G2044C

p.V682L

13.17

-

Trost2022 G
Zhou2022 GE

MYH14

13692.p1

chr19:
50713825-50713825

C

T

exonic

nonsynonymous SNV

NM_001077186
NM_001145809
NM_024729

c.C203T
c.C203T
c.C203T

p.A68V
p.A68V
p.A68V

20.4

-

Zhou2022 GE

MYH14

SP0147272

chr19:
50764877-50764877

G

A

exonic

nonsynonymous SNV

NM_024729
NM_001077186
NM_001145809

c.G2447A
c.G2471A
c.G2570A

p.G816E
p.G824E
p.G857E

24.8

1.785E-5

Zhou2022 GE

MYH14

PN400543

chr19:
50752378-50752378

G

A

exonic

De novo

synonymous SNV

NM_024729
NM_001077186
NM_001145809

c.G1440A
c.G1464A
c.G1464A

p.A480A
p.A488A
p.A488A

-

4.675E-5

Leblond2019 E

MYH14

SP0085026

chr19:
50726569-50726569

C

T

exonic

De novo

nonsynonymous SNV

NM_001077186
NM_001145809
NM_024729

c.C656T
c.C656T
c.C656T

p.A219V
p.A219V
p.A219V

21.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MYH14

2-1460-003

chr19:
50726604-50726604

C

T

exonic

De novo

nonsynonymous SNV

NM_001077186
NM_001145809
NM_024729

c.C691T
c.C691T
c.C691T

p.P231S
p.P231S
p.P231S

12.09

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

MYH14

SP0142581

chr19:
50762390-50762390

G

C

intronic

De novo

-

Fu2022 E
Trost2022 G

MYH14

SP0080444

chr19:
50755987-50755987

T

A

exonic

De novo

nonsynonymous SNV

NM_024729
NM_001077186
NM_001145809

c.T1898A
c.T1922A
c.T1922A

p.L633Q
p.L641Q
p.L641Q

16.42

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MYH14

7-0416-003

chr19:
50798285-50798285

A

AAAAAAAAAC

intronic

De novo

-

Trost2022 G

MYH14

2-1243-003

chr19:
50755475-50755482

ATCGTGAC

A

intronic

De novo

-

Trost2022 G

MYH14

5-0019-003

chr19:
50752041-50752041

C

T

intronic

De novo

-

Trost2022 G

MYH14

SP0138869

chr19:
50762472-50762472

C

G

exonic

nonsynonymous SNV

NM_024729
NM_001077186
NM_001145809

c.C2181G
c.C2205G
c.C2304G

p.I727M
p.I735M
p.I768M

18.68

-

Zhou2022 GE

MYH14

SP0051072

chr19:
50795441-50795441

G

A

intronic

De novo

-

Fu2022 E

MYH14

SSC03680

chr19:
50753076-50753076

G

A

exonic

Mosaic

nonsynonymous SNV

NM_024729
NM_001077186
NM_001145809

c.G1628A
c.G1652A
c.G1652A

p.R543Q
p.R551Q
p.R551Q

18.79

-

Lim2017 E

MYH14

SP0033004

chr19:
50783417-50783417

C

T

intronic

De novo

-

2.457E-5

Fu2022 E
Trost2022 G

MYH14

PN400542

chr19:
50774730-50774730

C

T

exonic

Unknown

nonsynonymous SNV

NM_024729
NM_001077186
NM_001145809

c.C2975T
c.C2999T
c.C3098T

p.T992M
p.T1000M
p.T1033M

17.32

3.0E-4

Leblond2019 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
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