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Results for "PRKG1"

Variant Events: 145

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
PRKG1     AU3900301chr10:
53021565-53021565
AGintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     1-0473-003chr10:
52933555-52933555
CAintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     1-1004-003chr10:
53953510-53953510
TCintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     7-0174-003chr10:
52997125-52997125
CTintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     SJD_50.3chr10:
52761672-52761672
GTintronicDe novo--Trost2022 G
PRKG1     AU2792301chr10:
53101175-53101175
TCintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     1-0838-003chr10:
52765729-52765729
GAintronicDe novo--Trost2022 G
PRKG1     5-5119-003chr10:
52755481-52755481
CAintronicDe novo--Trost2022 G
PRKG1     2-1733-003chr10:
52935365-52935365
CAintronicDe novo--Trost2022 G
PRKG1     10-1104-003chr10:
52937682-52937684
ACCGTAAintronicDe novo--Trost2022 G
PRKG1     MT_182.4chr10:
52924524-52924524
GAintronicDe novo--Trost2022 G
PRKG1     2-1107-003chr10:
52750466-52750466
AGupstreamDe novo--Yuen2017 G
PRKG1     3-0019-000chr10:
52935064-52935064
TGintronicDe novo--Trost2022 G
PRKG1     5-0046-003chr10:
52875482-52875482
AGintronicDe novo--Trost2022 G
PRKG1     MSSNG00206-003chr10:
52879541-52879541
TCintronicDe novo--Trost2022 G
PRKG1     1-0903-004chr10:
52773006-52773006
TCintronicDe novo--Trost2022 G
PRKG1     MSSNG00364-004chr10:
52817879-52817879
ATintronicDe novo--Trost2022 G
PRKG1     2-1237-002chr10:
53037340-53037340
CGintronicDe novo--Trost2022 G
PRKG1     MT_15.3chr10:
53041336-53041336
CTintronicDe novo--Trost2022 G
PRKG1     2-0159-003chr10:
52997052-52997052
TGintronicDe novo--Trost2022 G
PRKG1     5-5021-003chr10:
53006099-53006099
AGintronicDe novo--Trost2022 G
PRKG1     3-0607-000chr10:
52977843-52977843
GAintronicDe novo--Trost2022 G
PRKG1     AU045514chr10:
53242694-53242694
GAintronicDe novo--Yuen2017 G
PRKG1     AUTPGX_1017chr10:
52978627-52978627
AGintronicDe novo--Trost2022 G
PRKG1     AU2310301chr10:
52945741-52945741
TAintronicDe novo--Trost2022 G
PRKG1     7-0295-003chr10:
52968579-52968579
TGintronicDe novo--Trost2022 G
PRKG1     MSSNG00368-004chr10:
53207422-53207422
AGintronicDe novo--Trost2022 G
PRKG1     2-0145-003chr10:
53209383-53209387
ATTTATTCTGintronicDe novo--Trost2022 G
PRKG1     5-5159-003chr10:
53166533-53166533
GAintronicDe novo--Trost2022 G
PRKG1     MSSNG00057-003chr10:
53181511-53181511
GAintronicDe novo--Trost2022 G
PRKG1     7-0461-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
PRKG1     7-0392-004chr10:
53141049-53141049
AGintronicDe novo--Trost2022 G
PRKG1     AU3760302chr10:
53461147-53461147
CTintronicDe novo--Yuen2017 G
PRKG1     MSSNG00184-003chr10:
53121325-53121325
AGintronicDe novo--Trost2022 G
PRKG1     5-5024-003chr10:
53135616-53135616
GAintronicDe novo--Trost2022 G
PRKG1     3-0102-000chr10:
53277118-53277118
GAintronicDe novo--Trost2022 G
PRKG1     5-5159-003chr10:
53287065-53287065
TCintronicDe novo--Trost2022 G
PRKG1     1-1058-003chr10:
53255213-53255213
TCintronicDe novo--Trost2022 G
PRKG1     AU004403chr10:
53272841-53272841
GTintronicDe novo--Trost2022 G
PRKG1     2-0296-003chr10:
53684929-53684945
AATTGAAGTGGAGAGGTAintronicDe novo--Yuen2017 G
PRKG1     REACH000284chr10:
53212342-53212342
AGintronicDe novo--Trost2022 G
PRKG1     1-0305-004chr10:
53217561-53217561
TAintronicDe novo--Trost2022 G
PRKG1     1-0562-003chr10:
53209394-53209394
CCCGTGCCCAGCCAGCATATCATATTTATATintronicDe novo--Trost2022 G
PRKG1     7-0167-003chr10:
53684233-53684233
GAintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     AU4410302chr10:
53209445-53209445
TGintronicDe novo--Trost2022 G
PRKG1     3-0707-000chr10:
53472071-53472071
ACintronicDe novo--Trost2022 G
PRKG1     7-0344-003chr10:
53476709-53476709
TCintronicDe novo--Trost2022 G
PRKG1     2-1075-003chr10:
53445358-53445358
TCintronicDe novo--Trost2022 G
PRKG1     MSSNG00106-003chr10:
53340740-53340740
CTintronicDe novo--Trost2022 G
PRKG1     2-0198-005chr10:
53480749-53480749
TCintronicDe novo--Yuen2017 G
PRKG1     MSSNG00213-003chr10:
53406316-53406316
TCintronicDe novo--Trost2022 G
PRKG1     5-0053-003chr10:
53309929-53309929
AGintronicDe novo--Trost2022 G
PRKG1     5-5202-003chr10:
53312073-53312073
ATintronicDe novo--Trost2022 G
PRKG1     5-1006-003chr10:
53605700-53605700
GAintronicDe novo--Trost2022 G
PRKG1     AU059003chr10:
53612476-53612476
TGintronicDe novo--Trost2022 G
PRKG1     2-1493-003chr10:
53580213-53580213
GAintronicDe novo--Trost2022 G
PRKG1     MSSNG00354-004chr10:
53580916-53580916
GTintronicDe novo--Trost2022 G
PRKG1     MSSNG00363-003chr10:
53565753-53565753
GAintronicDe novo--Trost2022 G
PRKG1     2-1306-003chr10:
53202574-53202574
AGintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     MSSNG00354-004chr10:
53577914-53577914
AGintronicDe novo--Trost2022 G
PRKG1     AU2463301chr10:
53481885-53481885
GAintronicDe novo--Trost2022 G
PRKG1     1-0840-003chr10:
53486911-53486911
AGintronicDe novo--Trost2022 G
PRKG1     1-0214-003chr10:
52916794-52916797
TTAATintronicDe novo--Yuen2017 G
PRKG1     2-0122-004chr10:
53684933-53684934
GATintronicDe novo--Trost2022 G
PRKG1     2-0296-004chr10:
53684933-53684934
GATintronicDe novo--Trost2022 G
PRKG1     MSSNG00350-004chr10:
53666952-53666952
CTintronicDe novo--Trost2022 G
PRKG1     2-1549-003chr10:
53241252-53241252
GAintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     2-1744-003chr10:
53677447-53677447
GAintronicDe novo--Trost2022 G
PRKG1     MSSNG00357-003chr10:
53632136-53632136
AGintronicDe novo--Trost2022 G
PRKG1     SJD_50.3chr10:
53633120-53633120
TCintronicDe novo--Trost2022 G
PRKG1     MSSNG00061-003chr10:
53618648-53618648
TCintronicDe novo--Trost2022 G
PRKG1     1-0214-003chr10:
53991179-53991212
AAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAintronicDe novo--Yuen2017 G
PRKG1     AU2231301chr10:
53628632-53628632
TAintronicDe novo--Trost2022 G
PRKG1     AU2288301chr10:
53726961-53726961
ACintronicDe novo--Trost2022 G
PRKG1     MT_20.3chr10:
53734708-53734709
TGTintronicDe novo--Trost2022 G
PRKG1     MSSNG00438-003chr10:
53712761-53712761
CTintronicDe novo--Trost2022 G
PRKG1     MSSNG00052-003chr10:
53721572-53721572
CAintronicDe novo--Trost2022 G
PRKG1     2-0296-004chr10:
53684949-53684958
TAGTGGGAGGTintronicDe novo--Trost2022 G
PRKG1     MSSNG00399-003chr10:
53699444-53699444
TCintronicDe novo--Trost2022 G
PRKG1     2-0296-004chr10:
53684939-53684940
GAGintronicDe novo--Trost2022 G
PRKG1     2-0296-004chr10:
53684945-53684946
TATintronicDe novo--Trost2022 G
PRKG1     MSSNG00199-003chr10:
53887854-53887854
TCintronicDe novo--Trost2022 G
PRKG1     MSSNG00358-004chr10:
53888891-53888891
CTintronicDe novo--Trost2022 G
PRKG1     AU079104chr10:
53885068-53885068
CGintronicDe novo--Yuen2017 G
PRKG1     7-0252-003chr10:
53865280-53865280
GAintronicDe novo--Trost2022 G
PRKG1     4-0102-003chr10:
53867097-53867097
GCintronicDe novo--Trost2022 G
PRKG1     mAGRE2211chr10:
54053651-54053651
AAGACTTCTAATexonicMaternalstopgainNM_001098512
NM_006258
c.2007_2008insGACTTCTAAT
c.2052_2053insGACTTCTAAT
p.I669_D670delinsIDFX
p.I684_D685delinsIDFX
--Cirnigliaro2023 G
PRKG1     1-0403-003chr10:
53602044-53602044
AGintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     2-1620-003chr10:
53943256-53943256
CGintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     AU2793303chr10:
53422830-53422830
ATintronicDe novo--Yuen2017 G
PRKG1     AU055603chr10:
53766132-53766132
GTintronicDe novo--Trost2022 G
PRKG1     5-5177-003chr10:
53857290-53857290
AGintronicDe novo--Trost2022 G
PRKG1     7-0373-003chr10:
53747041-53747041
GAintronicDe novo--Trost2022 G
PRKG1     2-1647-003chr10:
53755854-53755854
CTintronicDe novo--Trost2022 G
PRKG1     1-0278-003Achr10:
54029973-54029973
GTintronicDe novo--Trost2022 G
PRKG1     2-1647-003chr10:
54035074-54035074
GAintronicDe novo--Trost2022 G
PRKG1     2-1702-004chr10:
53862382-53862390
AGGGGTTTCAintronicDe novo--Yuen2017 G
PRKG1     5-0041-003chr10:
53705835-53705835
CTintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     7-0419-003chr10:
53970906-53970906
GAintronicDe novo--Trost2022 G
PRKG1     1-0674-004chr10:
53845259-53845259
GAintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     5-5223-003chr10:
54027293-54027293
AGintronicDe novo--Trost2022 G
PRKG1     MT_44.3chr10:
53943114-53943114
GAintronicDe novo--Trost2022 G
PRKG1     4-0004-003chr10:
53965043-53965043
GAintronicDe novo--Trost2022 G
PRKG1     AU4260303chr10:
53076760-53076760
TCintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     1-0681-003chr10:
53938705-53938705
CTintronicDe novo--Trost2022 G
PRKG1     5-0091-003chr10:
53940367-53940367
CTintronicDe novo--Trost2022 G
PRKG1     MSSNG00168-003chr10:
54053756-54053756
GAUTR3De novo--Trost2022 G
PRKG1     2-0278-003chr10:
53424657-53424657
CTintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     AU3716302chr10:
52955056-52955056
GAintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     2-1207-003chr10:
53437083-53437083
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PRKG1     AU1725302chr10:
53473900-53473900
CGintronicDe novo--Yuen2017 G
PRKG1     12493.p1chr10:
53231563-53231563
AGintronicDe novo--Turner2016 G
PRKG1     13874.p1chr10:
53523132-53523132
CTintronicDe novo--Turner2016 G
PRKG1     AU4462302chr10:
53964197-53964197
GAintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     3-0409-000chr10:
53841382-53841382
GAintronicDe novo--Trost2022 G
Zhou2022 GE
PRKG1     2-1360-003chr10:
52899801-52899801
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
PRKG1     1-0353-003chr10:
52858548-52858548
CTintronicDe novo--Yuen2017 G
PRKG1     5-0025-004chr10:
53340805-53340805
AGintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     1-0552-003chr10:
52983528-52983528
TCintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     2-1152-003chr10:
53928619-53928619
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
PRKG1     SP0047558chr10:
52834180-52834180
TGintronicDe novo--Fu2022 E
Trost2022 G
PRKG1     SP0058411chr10:
53888160-53888160
CGintronicDe novo--Fu2022 E
Trost2022 G
PRKG1     2-1277-004chr10:
52986130-52986130
TGintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     A31chr10:
53428890-53428890
TCintronicDe novo--Wu2018 G
PRKG1     1-0417-003chr10:
53209467-53209467
CGintronicDe novo--Yuen2017 G
PRKG1     AU1933301chr10:
53832416-53832416
AGintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     1-0572-003chr10:
53511710-53511710
TCintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     1-0278-003chr10:
54029973-54029973
GTintronicDe novo--Yuen2016 G
PRKG1     AU3790301chr10:
53081892-53081892
GTintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     7-0058-003chr10:
53033494-53033494
AGintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     1-0638-003chr10:
52988352-52988364
AAGAGAGAGAGAGAAGAGAGAGAGintronicDe novo--Yuen2017 G
PRKG1     AU4444304chr10:
53369786-53369786
TCintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     1-0522-003chr10:
53451585-53451585
AGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
PRKG1     AU024606chr10:
52924428-52924428
TCintronicDe novo--Yuen2017 G
PRKG1     iHART2211chr10:
54053651-54053651
AAGACTTCTAATexonicMaternalstopgainNM_001098512
NM_006258
c.2007_2008insGACTTCTAAT
c.2052_2053insGACTTCTAAT
p.I669_D670delinsIDFX
p.I684_D685delinsIDFX
--Ruzzo2019 G
PRKG1     1-0534-004chr10:
53758003-53758003
CAintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     AU3911302chr10:
53050661-53050661
AGintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     3-0447-000chr10:
53786255-53786255
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PRKG1     5-0129-003chr10:
53410687-53410687
CTintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     AU015903chr10:
53228875-53228875
AGintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     2-0210-004chr10:
53788010-53788010
AGintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     AU017704chr10:
53120757-53120757
GAintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     AU045010chr10:
53017857-53017857
AGintronicDe novo--Trost2022 G
Yuen2017 G
PRKG1     74-0115chr10:
53628990-53628990
TCintronicDe novo--Michaelson2012 G
PRKG1     AU3811301chr10:
53508612-53508612
CTintronicDe novo--Trost2022 G
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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