Variant Results

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Results for "MUC6"

Variant Events: 17

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

MUC6

TAS_F3012Y

chr11:
1026085-1026085

C

T

exonic

De novo

nonsynonymous SNV

NM_005961

c.G2603A

p.C868Y

14.0

-

Fu2022 E
Satterstrom2020 E

MUC6

iHART2999

chr11:
1018737-1018738

GT

G

exonic

Paternal

frameshift deletion

NM_005961

c.4063delA

p.T1355fs

-

-

Ruzzo2019 G

MUC6

SP0048064

chr11:
1020674-1020674

G

A

intronic

De novo

-

Fu2022 E

MUC6

iHART1581

chr11:
1015767-1015767

G

C

exonic

Paternal

stopgain

NM_005961

c.C7034G

p.S2345X

46.0

Ruzzo2019 G

MUC6

SP0101325

chr11:
1031856-1031856

C

T

exonic

De novo

nonsynonymous SNV

NM_005961

c.G313A

p.V105I

6.869

Fu2022 E

MUC6

Shi2013:1

chr11:
1018095-1018095

G

TA

exonic

Inherited

frameshift substitution

NM_005961

c.4706_4706delinsTA

N/A

-

-

Shi2013 G

MUC6

iHART2888

chr11:
1028888-1028888

C

T

splicing

Paternal

splicing

14.05

Ruzzo2019 G

MUC6

11957.p1

chr11:
1027790-1027790

C

T

exonic

De novo

nonsynonymous SNV

NM_005961

c.G1876A

p.E626K

14.11

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

MUC6

SSC04242

chr11:
1027790-1027790

C

T

exonic

De novo

nonsynonymous SNV

NM_005961

c.G1876A

p.E626K

14.11

Fu2022 E
Lim2017 E

MUC6

13660.p1

chr11:
1016288-1016288

G

C

exonic

Mosaic

nonsynonymous SNV

NM_005961

c.C6513G

p.H2171Q

8.562

-

Dou2017 E

MUC6

1-0511-003

chr11:
1049422-1049446

AATGATGATGATGATGATGATGATG

AATGATGATGATGATGATGATG

intergenic

De novo

-

-

Yuen2017 G

MUC6

2-1093-009

chr11:
1041507-1041507

T

C

intergenic

De novo

-

-

Yuen2017 G

MUC6

ASC_18D972

chr11:
1025236-1025236

C

T

exonic

De novo

synonymous SNV

NM_005961

c.G2931A

p.T977T

-

Fu2022 E

MUC6

AU063005

chr11:
1052255-1052255

G

A

intergenic

De novo

-

-

Yuen2017 G

MUC6

Shi2013:2

chr11:
1018095-1018095

G

TA

exonic

Inherited

frameshift substitution

NM_005961

c.4706_4706delinsTA

N/A

-

-

Shi2013 G

MUC6

DEASD_0330_001

chr11:
1016042-1016042

C

G

exonic

De novo

nonsynonymous SNV

NM_005961

c.G6759C

p.R2253S

3.197

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E

MUC6

F10276-1

chr11:
1013542-1013542

C

T

exonic

De novo

nonsynonymous SNV

NM_005961

c.G7234A

p.D2412N

10.26

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
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