Variant Results

or

Results for "MUC5B"

Variant Events: 46

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

MUC5B

12447.p1

chr11:
1270260-1270260

C

A

exonic

De novo

nonsynonymous SNV

NM_002458

c.C12150A

p.H4050Q

3.389

-

Krumm2015 E

MUC5B

EGAN00001100985

chr11:
1244474-1244474

T

G

intronic

De novo

-

6.0E-4

Satterstrom2020 E
Trost2022 G

MUC5B

AU2433302

chr11:
1260171-1260171

A

C

exonic

De novo

nonsynonymous SNV

NM_002458

c.A3368C

p.E1123A

13.05

-

Yuen2017 G

MUC5B

08C73088

chr11:
1283318-1283318

G

A

UTR3

De novo

-

2.0E-4

Satterstrom2020 E
Trost2022 G

MUC5B

EGAN00001101030

chr11:
1244474-1244474

T

G

intronic

De novo

-

6.0E-4

Satterstrom2020 E
Trost2022 G

MUC5B

G01-GEA-262-HI

chr11:
1282757-1282757

C

T

exonic

De novo

synonymous SNV

NM_002458

c.C17208T

p.G5736G

-

Fu2022 E
Satterstrom2020 E
Trost2022 G

MUC5B

REACH000525

chr11:
1257370-1257370

C

G

intronic

De novo

-

Trost2022 G

MUC5B

5-2015-003

chr11:
1257974-1257974

C

T

intronic

De novo

-

Trost2022 G

MUC5B

SP0159525

chr11:
1247481-1247481

C

A

exonic

De novo

synonymous SNV

NM_002458

c.C174A

p.P58P

-

Trost2022 G

MUC5B

SSC00010

chr11:
1253773-1253773

C

A

exonic

De novo

stopgain

NM_002458

c.C1937A

p.S646X

38.0

-

Trost2022 G

MUC5B

21742-34594

chr11:
1272622-1272624

CTG

C

exonic

frameshift deletion

NM_002458

c.14513_14514del

p.L4838fs

-

Callaghan2019 G

MUC5B

21742-34594

chr11:
1272620-1272620

C

CTG

exonic

frameshift insertion

NM_002458

c.14510_14511insTG

p.T4837fs

-

Callaghan2019 G

MUC5B

1-1000-003

chr11:
1262965-1262982

GCCACCACCACCACCACC

GCCACCACCACCACC

exonic

De novo

nonframeshift deletion

NM_002458

c.4870_4872del

p.1624_1624del

-

Yuen2017 G

MUC5B

SP0004617

chr11:
1272720-1272720

T

C

exonic

De novo

synonymous SNV

NM_002458

c.T14610C

p.T4870T

-

0.0045

Trost2022 G

MUC5B

SP0197793

chr11:
1275944-1275944

G

A

exonic

De novo

synonymous SNV

NM_002458

c.G15498A

p.P5166P

-

3.394E-5

Trost2022 G

MUC5B

SP0004617

chr11:
1272708-1272708

C

T

exonic

De novo

synonymous SNV

NM_002458

c.C14598T

p.T4866T

-

0.0062

Trost2022 G

MUC5B

SP0171969

chr11:
1272708-1272708

C

T

exonic

De novo

synonymous SNV

NM_002458

c.C14598T

p.T4866T

-

0.0062

Trost2022 G

MUC5B

SP0006011

chr11:
1247948-1247948

C

A

exonic

De novo

stopgain

NM_002458

c.C303A

p.Y101X

32.0

-

Fu2022 E

MUC5B

SP0177696

chr11:
1261266-1261266

C

A

intronic

De novo

-

Trost2022 G

MUC5B

SP0148386

chr11:
1266096-1266096

G

A

exonic

De novo

synonymous SNV

NM_002458

c.G7986A

p.L2662L

-

Trost2022 G

MUC5B

11957.p1

chr11:
1270631-1270631

G

T

exonic

De novo

nonsynonymous SNV

NM_002458

c.G12521T

p.C4174F

10.5

-

Ji2016 E
Krumm2015 E

MUC5B

12779.p1

chr11:
1273699-1273699

C

T

exonic

De novo

nonsynonymous SNV

NM_002458

c.C14990T

p.P4997L

6.098

7.135E-5

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

MUC5B

SSC06612

chr11:
1273699-1273699

C

T

exonic

De novo

nonsynonymous SNV

NM_002458

c.C14990T

p.P4997L

6.098

7.135E-5

Fu2022 E
Lim2017 E
Trost2022 G

MUC5B

SSC04242

chr11:
1270631-1270631

G

T

exonic

De novo

nonsynonymous SNV

NM_002458

c.G12521T

p.C4174F

10.5

-

Fu2022 E
Lim2017 E

MUC5B

12951.p1

chr11:
1265906-1265906

C

T

exonic

De novo

nonsynonymous SNV

NM_002458

c.C7796T

p.T2599I

0.46

0.0271

Iossifov2012 E

MUC5B

13502.p1

chr11:
1270407-1270407

G

A

exonic

De novo

synonymous SNV

NM_002458

c.G12297A

p.T4099T

-

3.0E-4

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E

MUC5B

SP0059384

chr11:
1247465-1247465

T

G

exonic

De novo

nonsynonymous SNV

NM_002458

c.T158G

p.V53G

9.507

-

Fu2022 E

MUC5B

SP0087094

chr11:
1261512-1261512

G

A

exonic

De novo

nonsynonymous SNV

NM_002458

c.G3877A

p.G1293S

17.59

-

Fu2022 E

MUC5B

SP0052503

chr11:
1248057-1248057

G

C

exonic

De novo

nonsynonymous SNV

NM_002458

c.G412C

p.G138R

11.26

-

Fu2022 E

MUC5B

11078.p1

chr11:
1253773-1253773

C

A

exonic

Mosaic, De novo

stopgain

NM_002458

c.C1937A

p.S646X

38.0

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

MUC5B

14183.p1

chr11:
1263122-1263122

C

T

exonic

De novo

nonsynonymous SNV

NM_002458

c.C5012T

p.T1671M

10.44

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G

MUC5B

11653.p1

chr11:
1264158-1264158

T

C

exonic

De novo

synonymous SNV

NM_002458

c.T6048C

p.T2016T

-

0.0273

Iossifov2014 E
Kosmicki2017 E

MUC5B

11653.p1

chr11:
1265831-1265831

T

C

exonic

De novo

nonsynonymous SNV

NM_002458

c.T7721C

p.V2574A

3.871

0.0206

Iossifov2014 E
Kosmicki2017 E

MUC5B

11653.p1

chr11:
1269758-1269758

C

T

exonic

De novo

nonsynonymous SNV

NM_002458

c.C11648T

p.T3883M

3.372

8.0E-4

Iossifov2014 E
Kosmicki2017 E

MUC5B

SP0023343

chr11:
1272696-1272696

T

C

exonic

De novo

synonymous SNV

NM_002458

c.T14586C

p.G4862G

-

0.0018

Fu2022 E

MUC5B

13983.p1

chr11:
1269769-1269769

C

A

exonic

De novo

nonsynonymous SNV

NM_002458

c.C11659A

p.P3887T

3.256

0.0146

Iossifov2014 E
Kosmicki2017 E

MUC5B

2-0323-003

chr11:
1249333-1249333

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MUC5B

SP0086279

chr11:
1265379-1265379

G

A

exonic

De novo

synonymous SNV

NM_002458

c.G7269A

p.T2423T

-

4.854E-5

Fu2022 E

MUC5B

11653.p1

chr11:
1271969-1271984

GCACAACCACCACACC

G

exonic

De novo

nonframeshift deletion

NM_002458

c.13860_13874del

p.4620_4625del

-

6.761E-5

Iossifov2014 E
Kosmicki2017 E

MUC5B

AU4239301

chr11:
1267119-1267119

C

T

exonic

De novo

synonymous SNV

NM_002458

c.C9009T

p.T3003T

-

0.0067

Yuen2017 G

MUC5B

SP0057352

chr11:
1280324-1280350

CCCCGAGGCACCTGCCCCCAAGTGAGA

C

intronic

De novo

-

Fu2022 E

MUC5B

SP0043880

chr11:
1271321-1271321

C

T

exonic

De novo

nonsynonymous SNV

NM_002458

c.C13211T

p.A4404V

5.888

-

Fu2022 E

MUC5B

SP0040467

chr11:
1268164-1268164

A

G

exonic

De novo

nonsynonymous SNV

NM_002458

c.A10054G

p.I3352V

5.849

3.276E-5

Fu2022 E

MUC5B

SP0008087

chr11:
1256580-1256580

C

T

exonic

De novo

synonymous SNV

NM_002458

c.C2817T

p.T939T

-

4.233E-5

Fu2022 E
Trost2022 G

MUC5B

14183_p1

chr11:
1263122-1263122

C

T

exonic

De novo

nonsynonymous SNV

NM_002458

c.C5012T

p.T1671M

10.44

-

Fu2022 E

MUC5B

SP0051229

chr11:
1272337-1272337

A

T

exonic

De novo

nonsynonymous SNV

NM_002458

c.A14227T

p.T4743S

3.905

-

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