Variant Results

or

Results for "PAM"

Variant Events: 26

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

PAM

AU2029301

chr5:
102316914-102316914

G

A

intronic

De novo

-

Yuen2017 G

PAM

PN400326

chr5:
102338739-102338739

C

G

exonic

Unknown

nonsynonymous SNV

NM_138821
NM_000919
NM_001177306
NM_138766
NM_138822

c.C1295G
c.C1616G
c.C1616G
c.C1616G
c.C1616G

p.S432W
p.S539W
p.S539W
p.S539W
p.S539W

24.8

0.0043

Leblond2019 E

PAM

A16

chr5:
102371004-102371004

C

T

intergenic

De novo

-

Wu2018 G

PAM

608968451511-C3

chr5:
102285369-102285369

T

G

intronic

De novo

-

Fu2022 E

PAM

SSC09186

chr5:
102340877-102340877

T

C

exonic

De novo

synonymous SNV

NM_138821
NM_000919
NM_001177306
NM_138766
NM_138822

c.T1429C
c.T1750C
c.T1750C
c.T1750C
c.T1750C

p.L477L
p.L584L
p.L584L
p.L584L
p.L584L

8.333

-

Fu2022 E
Lim2017 E

PAM

AU048206

chr5:
102223132-102223132

A

T

intronic

De novo

-

Yuen2017 G

PAM

PN400350

chr5:
102338739-102338739

C

G

exonic

Unknown

nonsynonymous SNV

NM_138821
NM_000919
NM_001177306
NM_138766
NM_138822

c.C1295G
c.C1616G
c.C1616G
c.C1616G
c.C1616G

p.S432W
p.S539W
p.S539W
p.S539W
p.S539W

24.8

0.0043

Leblond2019 E

PAM

2-1397-003

chr5:
102331887-102331887

C

T

intronic

De novo

-

Yuen2017 G

PAM

PN400415

chr5:
102338739-102338739

C

G

exonic

Unknown

nonsynonymous SNV

NM_138821
NM_000919
NM_001177306
NM_138766
NM_138822

c.C1295G
c.C1616G
c.C1616G
c.C1616G
c.C1616G

p.S432W
p.S539W
p.S539W
p.S539W
p.S539W

24.8

0.0043

Leblond2019 E

PAM

AU3913301

chr5:
102301348-102301348

T

C

intronic

De novo

-

Yuen2017 G

PAM

2-0098-003

chr5:
102313703-102313703

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PAM

1-0025-004

chr5:
102264869-102264869

A

C

intronic

De novo

-

Yuen2017 G

PAM

AU4378301

chr5:
102380496-102380496

C

A

intergenic

De novo

-

Yuen2017 G

PAM

SP0029222

chr5:
102309901-102309901

A

G

exonic

De novo

nonsynonymous SNV

NM_000919
NM_001177306
NM_138766
NM_138822

c.A1244G
c.A1244G
c.A1244G
c.A1244G

p.K415R
p.K415R
p.K415R
p.K415R

16.62

-

Fu2022 E

PAM

PN400507

chr5:
102338739-102338739

C

G

exonic

Unknown

nonsynonymous SNV

NM_138821
NM_000919
NM_001177306
NM_138766
NM_138822

c.C1295G
c.C1616G
c.C1616G
c.C1616G
c.C1616G

p.S432W
p.S539W
p.S539W
p.S539W
p.S539W

24.8

0.0043

Leblond2019 E

PAM

PN400272

chr5:
102338739-102338739

C

G

exonic

Unknown

nonsynonymous SNV

NM_138821
NM_000919
NM_001177306
NM_138766
NM_138822

c.C1295G
c.C1616G
c.C1616G
c.C1616G
c.C1616G

p.S432W
p.S539W
p.S539W
p.S539W
p.S539W

24.8

0.0043

Leblond2019 E

PAM

1232002

chr5:
102363978-102363978

G

A

intronic

De novo

-

Satterstrom2020 E

PAM

DEASD_1006_001

chr5:
102285721-102285721

T

C

intronic

De novo

-

9.673E-6

Satterstrom2020 E

PAM

2-0704-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

PAM

PN400457

chr5:
102338739-102338739

C

G

exonic

Unknown

nonsynonymous SNV

NM_138821
NM_000919
NM_001177306
NM_138766
NM_138822

c.C1295G
c.C1616G
c.C1616G
c.C1616G
c.C1616G

p.S432W
p.S539W
p.S539W
p.S539W
p.S539W

24.8

0.0043

Leblond2019 E

PAM

13690.p1

chr5:
102340877-102340877

T

C

exonic

De novo

synonymous SNV

NM_138821
NM_000919
NM_001177306
NM_138766
NM_138822

c.T1429C
c.T1750C
c.T1750C
c.T1750C
c.T1750C

p.L477L
p.L584L
p.L584L
p.L584L
p.L584L

8.333

-

Iossifov2014 E
Kosmicki2017 E

PAM

1-0144-005

chr5:
102401698-102401698

T

TG

intergenic

De novo

-

Yuen2017 G

PAM

1-0125-003

chr5:
102309880-102309880

A

T

exonic

De novo

nonsynonymous SNV

NM_000919
NM_001177306
NM_138766
NM_138822

c.A1223T
c.A1223T
c.A1223T
c.A1223T

p.H408L
p.H408L
p.H408L
p.H408L

22.4

-

Yuen2017 G

PAM

1-0469-003

chr5:
102269141-102269141

T

C

intronic

De novo

-

Yuen2017 G

PAM

AU2777302

chr5:
102221175-102221175

A

G

intronic

De novo

-

Yuen2017 G

PAM

13171.p1

chr5:
102297964-102297964

A

G

intronic

De novo

-

Turner2016 G

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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