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Results for "PC"
Variant Events: 22
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
PC
Li2017:20294
chr11:
66616775-66616775
C
T
exonic
Unknown
nonsynonymous SNV
NM_022172
NM_000920
NM_001040716
c.G3214A
c.G3214A
c.G3214A
p.G1072S
p.G1072S
p.G1072S
28.0
8.314E-6
Li2017
T
Li2017
T
PC
A10
chr11:
66639184-66639184
T
C
exonic
De novo
nonsynonymous SNV
NM_022172
NM_000920
NM_001040716
c.A295G
c.A295G
c.A295G
p.I99V
p.I99V
p.I99V
16.75
-
Wu2018
G
PC
1912_15au
chr11:
66627957-66627957
C
T
intronic
De novo
15.03
-
Fu2022
E
PC
Li2017:17505
chr11:
66633666-66633666
G
A
exonic
Unknown
nonsynonymous SNV
NM_022172
NM_000920
NM_001040716
c.C1177T
c.C1177T
c.C1177T
p.R393C
p.R393C
p.R393C
20.6
1.695E-5
Li2017
T
Li2017
T
PC
Li2017:18415
chr11:
66636429-66636429
A
T
exonic
Unknown
nonsynonymous SNV
NM_022172
NM_000920
NM_001040716
c.T910A
c.T910A
c.T910A
p.Y304N
p.Y304N
p.Y304N
24.7
-
Li2017
T
Li2017
T
PC
7-0100-003
chr11:
66713387-66713387
C
T
intronic
De novo
-
-
Yuen2017
G
PC
1-0571-003
chr11:
66736596-66736596
C
T
intergenic
De novo
-
-
Yuen2017
G
PC
1-0043-003
chr11:
66713387-66713387
C
T
intronic
De novo
-
-
Yuen2017
G
PC
Li2017:36
chr11:
66638594-66638594
C
T
exonic
Unknown
nonsynonymous SNV
NM_022172
NM_000920
NM_001040716
c.G562A
c.G562A
c.G562A
p.G188S
p.G188S
p.G188S
36.0
1.654E-5
Li2017
T
PC
Li2017:19675
chr11:
66618561-66618561
C
A
exonic
Unknown
nonsynonymous SNV
NM_022172
NM_000920
NM_001040716
c.G2173T
c.G2173T
c.G2173T
p.G725C
p.G725C
p.G725C
22.9
-
Li2017
T
PC
SSC04583
chr11:
66617104-66617104
G
C
exonic
De novo
nonsynonymous SNV
NM_022172
NM_000920
NM_001040716
c.C3125G
c.C3125G
c.C3125G
p.P1042R
p.P1042R
p.P1042R
16.69
-
Fu2022
E
Lim2017
E
PC
12388.p1
chr11:
66617104-66617104
G
C
exonic
De novo
nonsynonymous SNV
NM_022172
NM_000920
NM_001040716
c.C3125G
c.C3125G
c.C3125G
p.P1042R
p.P1042R
p.P1042R
16.69
-
Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Satterstrom2020
E
PC
1-0045-004
chr11:
66713373-66713373
A
T
intronic
De novo
-
-
Yuen2017
G
PC
Li2017:20619
chr11:
66617510-66617510
T
A
exonic
Unknown
nonsynonymous SNV
NM_022172
NM_000920
NM_001040716
c.A2796T
c.A2796T
c.A2796T
p.E932D
p.E932D
p.E932D
11.84
-
Li2017
T
PC
Li2017:16280
chr11:
66639170-66639170
G
C
exonic
Unknown
nonsynonymous SNV
NM_022172
NM_000920
NM_001040716
c.C309G
c.C309G
c.C309G
p.I103M
p.I103M
p.I103M
18.67
-
Li2017
T
Li2017
T
PC
2-0197-004
chr11:
66669033-66669033
C
T
intronic
De novo
-
-
Yuen2017
G
PC
AU3692302
chr11:
66694751-66694751
G
A
intronic
De novo
-
-
Yuen2017
G
PC
A29
chr11:
66638594-66638594
C
T
exonic
De novo
nonsynonymous SNV
NM_022172
NM_000920
NM_001040716
c.G562A
c.G562A
c.G562A
p.G188S
p.G188S
p.G188S
36.0
1.654E-5
Wu2018
G
PC
2-1409-003
chr11:
66681547-66681547
G
A
intronic
De novo
-
-
Yuen2016
G
Yuen2017
G
PC
AU4392302
chr11:
66669307-66669307
G
A
intronic
De novo
-
-
Yuen2017
G
PC
SP0004396
chr11:
66638462-66638462
C
T
intronic
De novo
-
-
Fu2022
E
PC
iHART3177
chr11:
66616496-66616498
CAG
C
exonic
Paternal
frameshift deletion
NM_022172
NM_000920
NM_001040716
c.3409_3410del
c.3409_3410del
c.3409_3410del
p.L1137fs
p.L1137fs
p.L1137fs
-
-
Ruzzo2019
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
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