Variant Results

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or

Results for "PAPLN"

Variant Events: 15

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

PAPLN

SP0009866

chr14:
73711448-73711448

C

T

exonic

De novo

nonsynonymous SNV

NM_173462

c.C151T

p.R51C

18.62

Fu2022 E
Trost2022 G
Zhou2022 GE

PAPLN

SP0038793

chr14:
73730651-73730651

T

C

intronic

De novo

-

-

Fu2022 E

PAPLN

SP0044848

chr14:
73718816-73718816

T

C

exonic

De novo

nonsynonymous SNV

NM_173462

c.T853C

p.S285P

21.4

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PAPLN

200675453@1082034446

chr14:
73729315-73729315

G

A

exonic

De novo

nonsynonymous SNV

NM_173462

c.G2422A

p.E808K

9.071

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PAPLN

1-0465-003a

chr14:
73721240-73721240

T

C

exonic

De novo

nonsynonymous SNV

NM_173462

c.T1241C

p.V414A

0.705

Yuen2017 G
Zhou2022 GE

PAPLN

SP0179897

chr14:
73733296-73733296

G

A

exonic

De novo

synonymous SNV

NM_173462

c.G3270A

p.G1090G

-

-

Trost2022 G

PAPLN

1018

chr14:
73724075-73724075

C

T

intronic

De novo

-

-

Trost2022 G

PAPLN

AU2729301

chr14:
73730745-73730745

G

T

intronic

De novo

-

Trost2022 G

PAPLN

NDAR_INVZR218GJA_wes1

chr14:
73718718-73718718

C

A

intronic

De novo

-

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PAPLN

AU4235301

chr14:
73703586-73703586

G

T

upstream

De novo

-

-

Trost2022 G

PAPLN

200675453_1082034446

chr14:
73729315-73729315

G

A

exonic

De novo

nonsynonymous SNV

NM_173462

c.G2422A

p.E808K

9.071

Fu2022 E

PAPLN

2-1546-003

chr14:
73739351-73739351

C

T

exonic

De novo

synonymous SNV

NM_173462

c.C3735T

p.H1245H

-

Trost2022 G
Zhou2022 GE

PAPLN

1-0465-003A

chr14:
73721240-73721240

T

C

exonic

De novo

nonsynonymous SNV

NM_173462

c.T1241C

p.V414A

0.705

Trost2022 G

PAPLN

Chen2017:46

chr14:
73729315-73729315

G

A

exonic

De novo

nonsynonymous SNV

NM_173462

c.G2422A

p.E808K

9.071

Chen2017 E

PAPLN

1-0465-003

chr14:
73721240-73721240

T

C

exonic

De novo

nonsynonymous SNV

NM_173462

c.T1241C

p.V414A

0.705

Yuen2017 G
Zhou2022 GE

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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