Variant Results

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Results for "CD163"

Variant Events: 11

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

CD163

5-0146-003

chr12:
7704643-7704643

A

G

intergenic

De novo

-

-

Yuen2017 G

CD163

Chen2017:16

chr12:
7647881-7647881

C

G

exonic

De novo

nonsynonymous SNV

NM_004244
NM_203416

c.G1216C
c.G1216C

p.E406Q
p.E406Q

17.01

-

Chen2017 E

CD163

iHART1964

chr12:
7633842-7633842

T

TC

exonic

Maternal

frameshift insertion

NM_004244
NM_203416

c.3257dupG
c.3257dupG

p.R1086fs
p.R1086fs

-

-

Ruzzo2019 G

CD163

SP0020903

chr12:
7651659-7651659

C

G

exonic

De novo

nonsynonymous SNV

NM_004244
NM_203416

c.G583C
c.G583C

p.V195L
p.V195L

20.7

-

Feliciano2019 E
Fu2022 E

CD163

200675356_1082034480

chr12:
7647881-7647881

C

G

exonic

De novo

nonsynonymous SNV

NM_004244
NM_203416

c.G1216C
c.G1216C

p.E406Q
p.E406Q

17.01

-

Fu2022 E

CD163

A6

chr12:
7737952-7737952

C

T

intergenic

De novo

-

-

Wu2018 G

CD163

1792_17AU

chr12:
7637999-7637999

C

G

exonic

De novo

synonymous SNV

NM_004244
NM_203416

c.G2472C
c.G2472C

p.L824L
p.L824L

-

-

Fu2022 E

CD163

200675356@1082034480

chr12:
7647881-7647881

C

G

exonic

De novo

nonsynonymous SNV

NM_004244
NM_203416

c.G1216C
c.G1216C

p.E406Q
p.E406Q

17.01

-

Satterstrom2020 E

CD163

SP0028990

chr12:
7649451-7649451

G

C

exonic

De novo

nonsynonymous SNV

NM_004244
NM_203416

c.C1057G
c.C1057G

p.H353D
p.H353D

16.44

-

Fu2022 E

CD163

AU3858303

chr12:
7693773-7693773

G

T

intergenic

De novo

-

-

Yuen2017 G

CD163

1-0382-004

chr12:
7694294-7694301

CAGGCAGG

C

intergenic

De novo

-

-

Yuen2017 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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