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Results for "CHST9"

Variant Events: 76

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
CHST9     1-0384-003chr18:
24496716-24496716
CTexonicDe novononsynonymous SNVNM_031422c.G839Ap.R280H23.08.286E-6Yuen2017 G
Zhou2022 GE
CHST9     AU3645301chr18:
25312938-25312938
GCintergenicDe novo--Yuen2017 G
CHST9     11285.p1chr18:
25514348-25514348
AGintergenicDe novo--Werling2018 G
CHST9     2-0149-004chr18:
24623373-24623373
GAintronicDe novo--Trost2022 G
Yuen2017 G
CHST9     AU1668302chr18:
25110382-25110382
TCintergenicDe novo--Yuen2017 G
CHST9     1-0554-003chr18:
25491294-25491294
TCintergenicDe novo--Yuen2017 G
CHST9     1-0206-004chr18:
24611660-24611660
GAintronicDe novo--Trost2022 G
Yuen2017 G
CHST9     1-0305-004chr18:
25080617-25080617
TGintergenicDe novo--Yuen2017 G
CHST9     AU0039303chr18:
25340236-25340236
GAintergenicDe novo--Yuen2017 G
CHST9     2-1261-003chr18:
24835065-24835065
AGintergenicDe novo--Yuen2017 G
CHST9     1-0191-004chr18:
24846151-24846151
GTintergenicDe novo--Yuen2017 G
CHST9     AU4423303chr18:
25260083-25260083
CTintergenicDe novo--Yuen2017 G
CHST9     2-1169-004chr18:
24668640-24668640
GCintronicDe novo--Trost2022 G
Yuen2017 G
CHST9     1-0104-004chr18:
24537932-24537932
CGintronicDe novo--Trost2022 G
Yuen2017 G
CHST9     2-1459-003chr18:
25365810-25365810
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
CHST9     AU3906301chr18:
24581279-24581279
CTintronicDe novo--Trost2022 G
Yuen2017 G
CHST9     13874.p1chr18:
25139221-25139221
GTintergenicDe novo--Turner2016 G
Werling2018 G
CHST9     1-0553-003chr18:
25346993-25346995
CTGCintergenicDe novo--Yuen2017 G
CHST9     2-1336-003chr18:
24630998-24630998
TCintronicDe novo--Trost2022 G
Yuen2017 G
CHST9     2-1693-003chr18:
25450809-25450809
GAintergenicDe novo--Yuen2017 G
CHST9     14101.p1chr18:
24689923-24689923
AGintronicDe novo--Werling2018 G
CHST9     2-1196-003chr18:
24780690-24780690
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
CHST9     2-1283-003chr18:
24537928-24537928
AGintronicDe novo--Trost2022 G
CHST9     AU4176302chr18:
25126575-25126575
CAintergenicDe novo--Yuen2017 G
CHST9     5-0055-003chr18:
24537928-24537928
AGintronicDe novo--Trost2022 G
CHST9     5-0055-003chr18:
24537912-24537913
ACGGintronicDe novo--Trost2022 G
CHST9     2-1283-003chr18:
24537912-24537913
ACGGintronicDe novo--Trost2022 G
CHST9     1-0169-004chr18:
24879942-24879942
AATTTGintergenicDe novo--Yuen2017 G
CHST9     1-0259-003chr18:
24537999-24538000
CAAGintronicDe novo--Trost2022 G
CHST9     4-0040-004chr18:
24538005-24538005
CTintronicDe novo--Trost2022 G
CHST9     4-0040-004chr18:
24537996-24538000
ATGCAGCCCGintronicDe novo--Trost2022 G
CHST9     4-0077-003chr18:
24537999-24538000
CAAGintronicDe novo--Trost2022 G
CHST9     7-0129-003chr18:
24715545-24715545
CTintronicDe novo--Yuen2017 G
CHST9     2-1192-003chr18:
24537996-24538000
ATGCAGCCCGintronicDe novo--Trost2022 G
CHST9     1-0218-004chr18:
25333205-25333205
GTintergenicDe novo--Yuen2017 G
CHST9     2-1336-003chr18:
24537996-24538000
ATGCAGCCCGintronicDe novo--Trost2022 G
CHST9     2-1330-003chr18:
24915337-24915337
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
CHST9     5-0055-003chr18:
24537932-24537932
CGintronicDe novo--Trost2022 G
CHST9     2-1283-003chr18:
24537932-24537932
CGintronicDe novo--Trost2022 G
CHST9     AU2793301chr18:
25323265-25323265
ATintergenicDe novo--Yuen2017 G
CHST9     MSSNG00348-003chr18:
24608731-24608731
CCAintronicDe novo--Trost2022 G
CHST9     1-0541-003chr18:
24949901-24949901
TCintergenicDe novo--Yuen2017 G
CHST9     MSSNG00048-003chr18:
24627024-24627024
GAintronicDe novo--Trost2022 G
CHST9     1-0272-003chr18:
24538093-24538093
AGintronicDe novo--Trost2022 G
CHST9     1-0272-003chr18:
24538096-24538097
TACGintronicDe novo--Trost2022 G
CHST9     AU3857301chr18:
25326732-25326732
TCintergenicDe novo--Yuen2017 G
CHST9     4-0077-003chr18:
24538006-24538008
ACAGCGintronicDe novo--Trost2022 G
CHST9     2-1336-003chr18:
24538008-24538008
AGintronicDe novo--Trost2022 G
CHST9     2-1336-003chr18:
24538005-24538005
CTintronicDe novo--Trost2022 G
CHST9     1-0259-003chr18:
24538006-24538008
ACAGCGintronicDe novo--Trost2022 G
CHST9     3-0376-000chr18:
24740192-24740192
ATintronicDe novo--Trost2022 G
CHST9     MT_61.3chr18:
24754474-24754474
ACintronicDe novo--Trost2022 G
CHST9     1-0452-003chr18:
25528252-25528252
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
CHST9     2-1511-003chr18:
24692981-24692981
GAintronicDe novo--Trost2022 G
CHST9     5-0009-003chr18:
24718465-24718466
ATAintronicDe novo--Trost2022 G
CHST9     5-0011-003chr18:
24654099-24654099
CTintronicDe novo--Trost2022 G
CHST9     7-0303-003chr18:
24675923-24675923
GTintronicDe novo--Trost2022 G
CHST9     MSSNG00416-003chr18:
24637739-24637739
GAintronicDe novo--Trost2022 G
CHST9     2-1275-003chr18:
25413072-25413072
ACintergenicDe novo--Yuen2017 G
CHST9     4-0062-003chr18:
24643867-24643868
GCAAintronicDe novo--Trost2022 G
CHST9     AU3263301chr18:
25492255-25492255
TCintergenicDe novo--Yuen2017 G
CHST9     1-0169-003chr18:
24537932-24537932
CGintronicDe novo--Trost2022 G
Yuen2017 G
CHST9     1-0150-004chr18:
25342519-25342519
AGintergenicDe novo--Yuen2017 G
CHST9     AU031204chr18:
25450425-25450425
TGintergenicDe novo--Yuen2017 G
CHST9     11194.p1chr18:
24776270-24776270
AGintergenicDe novo--Turner2016 G
CHST9     13023.p1chr18:
25198279-25198279
GTintergenicDe novo--Turner2016 G
CHST9     AU2123302chr18:
24871509-24871509
TCintergenicDe novo--Yuen2017 G
CHST9     11572.p1chr18:
25481703-25481703
GTintergenicDe novo--Turner2016 G
CHST9     AU2248301chr18:
25287791-25287791
TCintergenicDe novo--Yuen2017 G
CHST9     2-1725-003chr18:
24813302-24813302
TCintergenicDe novo--Yuen2017 G
CHST9     1-0896-003chr18:
25026941-25026943
CTTCintergenicDe novo--Yuen2017 G
CHST9     2-1338-003chr18:
25119933-25119933
CGintergenicDe novo--Yuen2017 G
CHST9     1-0054-004chr18:
24575178-24575178
GAintronicDe novo--Trost2022 G
Yuen2017 G
CHST9     1-0636-003chr18:
25275393-25275397
CGGGGCGGGintergenicDe novo--Yuen2017 G
CHST9     AU1742302chr18:
24725563-24725563
GTintronicDe novo--Trost2022 G
Yuen2017 G
CHST9     AU3846302chr18:
25092218-25092218
AGintergenicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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