Variant Results

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Results for "PRSS48"

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

PRSS48

Li2017:19652

chr4:
152212276-152212276

T

G

exonic

Unknown

nonsynonymous SNV

NM_183375

c.T658G

p.S220A

16.09

Li2017 T

PRSS48

AU076508

chr4:
152272380-152272380

C

T

intergenic

De novo

-

-

Yuen2017 G

PRSS48

AU4344301

chr4:
152292459-152292459

T

A

intergenic

De novo

-

-

Yuen2017 G

PRSS48

Li2017:27841

chr4:
152203306-152203306

G

A

exonic

Unknown

stopgain

NM_183375

c.G222A

p.W74X

12.87

-

Li2017 T

PRSS48

2-1735-003

chr4:
152264351-152264351

C

T

intergenic

De novo

-

-

Yuen2017 G

PRSS48

AU3905301

chr4:
152204050-152204050

C

T

intronic

De novo

-

-

Yuen2017 G

PRSS48

1-0169-004

chr4:
152299597-152299597

C

G

intergenic

De novo

-

-

Yuen2017 G

PRSS48

iHART2774

chr4:
152201106-152201106

C

T

exonic

Paternal

stopgain

NM_183375

c.C211T

p.Q71X

11.88

Ruzzo2019 G

PRSS48

AU060803

chr4:
152233500-152233500

T

C

intergenic

De novo

-

-

Yuen2017 G

PRSS48

iHART2772

chr4:
152201106-152201106

C

T

exonic

Paternal

stopgain

NM_183375

c.C211T

p.Q71X

11.88

Ruzzo2019 G

PRSS48

2-1170-003

chr4:
152298850-152298850

A

T

intergenic

De novo

-

-

Yuen2017 G

PRSS48

A8

chr4:
152201026-152201026

G

GGTCAT

exonic

De novo

frameshift insertion

NM_183375

c.131_132insGTCAT

p.S44fs

-

-

Wu2018 G

PRSS48

A17

chr4:
152201026-152201026

G

GGTCAT

exonic

De novo

frameshift insertion

NM_183375

c.131_132insGTCAT

p.S44fs

-

-

Wu2018 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
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