Variant Results

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Results for "MYH6"

Variant Events: 13

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

MYH6

14202.p1

chr14:
23851809-23851809

G

A

intronic

De novo

-

-

Satterstrom2020 E

MYH6

2-0305-003

chr14:
23862796-23862796

C

A

intronic

De novo

-

-

Yuen2017 G

MYH6

SJD_49

chr14:
23869560-23869560

C

G

exonic

Paternal

nonsynonymous SNV

NM_002471

c.G1486C

p.V496L

22.8

Toma2013 E

MYH6

DEASD_0203_001

chr14:
23856995-23856995

G

T

exonic

De novo

synonymous SNV

NM_002471

c.C4497A

p.T1499T

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

MYH6

EGAN00001101089

chr14:
23862683-23862683

G

A

exonic

De novo

synonymous SNV

NM_002471

c.C2973T

p.I991I

-

Fu2022 E
Satterstrom2020 E

MYH6

1-0200-004

chr14:
23852600-23852600

A

C

intronic

De novo

-

-

Yuen2017 G

MYH6

GEA243

chr14:
23853862-23853862

T

C

exonic

De novo

nonsynonymous SNV

NM_002471

c.A5354G

p.K1785R

18.26

-

Fu2022 E

MYH6

11725-1

chr14:
23866026-23866026

C

A

exonic

De novo

nonsynonymous SNV

NM_002471

c.G2169T

p.R723S

16.19

-

Fu2022 E

MYH6

111305

chr14:
23855204-23855204

C

T

exonic

nonsynonymous SNV

NM_002471

c.G5096A

p.R1699Q

34.0

Woodbury-Smith2022 E

MYH6

iHART2477

chr14:
23870187-23870187

C

G

splicing

De novo

splicing

12.71

-

Ruzzo2019 G

MYH6

2-0256-003

chr14:
23859357-23859357

C

T

exonic

De novo

nonsynonymous SNV

NM_002471

c.G3641A

p.R1214Q

32.0

Yuen2015 G

MYH6

SP0110129

chr14:
23873951-23873951

C

T

exonic

De novo

nonsynonymous SNV

NM_002471

c.G611A

p.R204H

18.46

Fu2022 E

MYH6

SP0140612

chr14:
23874845-23874845

C

T

exonic

De novo

stopgain

NM_002471

c.G336A

p.W112X

36.0

-

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
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