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Results for "HCN1"

Variant Events: 133

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
HCN1     2-1526-003chr5:
45974424-45974424
AGintergenicDe novo--Yuen2017 G
HCN1     1-0387-003chr5:
46149195-46149195
AGintergenicDe novo--Yuen2017 G
HCN1     3-0447-000chr5:
45805291-45805291
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
HCN1     AU073006chr5:
46369544-46369544
CTintergenicDe novo--Yuen2017 G
HCN1     1-0454-003chr5:
46028523-46028523
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
HCN1     2-1235-003chr5:
45802124-45802124
CTintergenicDe novo--Yuen2017 G
HCN1     2-0240-004chr5:
46014065-46014065
TTCintergenicDe novo--Yuen2017 G
HCN1     2-1690-003chr5:
46232380-46232385
GTATCTGTATCTATCTintergenicDe novo--Yuen2017 G
HCN1     2-1690-003chr5:
46135045-46135045
CTintergenicDe novo--Yuen2017 G
HCN1     AU1955302chr5:
45760589-45760589
AGintergenicDe novo--Yuen2017 G
HCN1     AM03ZF-03chr5:
45308681-45308681
TAintronicDe novo--Trost2022 G
HCN1     2-1507-003chr5:
46267913-46267913
GAintergenicDe novo--Yuen2017 G
HCN1     AU2310301chr5:
45315365-45315365
TGintronicDe novo--Trost2022 G
HCN1     MSSNG00328-003chr5:
45294623-45294623
CAintronicDe novo--Trost2022 G
HCN1     7-0459-003chr5:
45301556-45301556
CAintronicDe novo--Trost2022 G
HCN1     10-1118-003chr5:
45274092-45274096
TTAAATintronicDe novo--Trost2022 G
HCN1     5-5146-005chr5:
45293579-45293580
ACAintronicDe novo--Trost2022 G
HCN1     1-0336-003chr5:
45396180-45396180
AAGintronicDe novo--Yuen2017 G
HCN1     AU049304chr5:
45274571-45274571
TAintronicDe novo--Trost2022 G
Yuen2017 G
HCN1     SP0155733chr5:
45262137-45262137
GAexonicDe novosynonymous SNVNM_021072c.C2559Tp.N853N--Trost2022 G
HCN1     7-0381-003chr5:
45410216-45410216
TGintronicDe novo--Trost2022 G
HCN1     REACH000086chr5:
45420404-45420404
ACintronicDe novo--Trost2022 G
HCN1     2-1343-003chr5:
46084218-46084218
AGintergenicDe novo--Yuen2017 G
HCN1     MT_192.3chr5:
45367350-45367350
CAintronicDe novo--Trost2022 G
HCN1     3-0630-000chr5:
45375018-45375018
CGintronicDe novo--Trost2022 G
HCN1     AU2283301chr5:
45364004-45364004
CAintronicDe novo--Trost2022 G
HCN1     MSSNG00026-003chr5:
45366558-45366558
TCintronicDe novo--Trost2022 G
HCN1     4-0008-003chr5:
45318576-45318576
ATintronicDe novo--Trost2022 G
HCN1     MSSNG00100-003chr5:
45349428-45349428
GAintronicDe novo--Trost2022 G
HCN1     1-1195-003chr5:
45466172-45466172
AGintronicDe novo--Trost2022 G
HCN1     REACH000446chr5:
45470584-45470584
TCintronicDe novo--Trost2022 G
HCN1     5-0138-003chr5:
45923691-45923691
GAintergenicDe novo--Yuen2017 G
HCN1     MT_82.3chr5:
45457500-45457500
AGintronicDe novo--Trost2022 G
HCN1     MSSNG00033-005chr5:
45460940-45460940
GAintronicDe novo--Trost2022 G
HCN1     MT_44.3chr5:
45432063-45432063
ATintronicDe novo--Trost2022 G
HCN1     MSSNG00165-003chr5:
45454371-45454371
TCintronicDe novo--Trost2022 G
HCN1     AU050604chr5:
45422255-45422255
GCintronicDe novo--Trost2022 G
Yuen2017 G
HCN1     1-0236-004chr5:
45424263-45424263
CTintronicDe novo--Trost2022 G
HCN1     MSSNG00172-003chr5:
45429602-45429602
AGintronicDe novo--Trost2022 G
HCN1     2-1152-003chr5:
45803858-45803858
CGintergenicDe novo--Yuen2016 G
HCN1     4-0061-003chr5:
45552303-45552303
TCintronicDe novo--Trost2022 G
HCN1     MT_78.3chr5:
45553292-45553292
CAintronicDe novo--Trost2022 G
HCN1     1-0323-003chr5:
45512643-45512643
AGintronicDe novo--Yuen2017 G
HCN1     3-0541-000Achr5:
45528088-45528093
TATTAATintronicDe novo--Trost2022 G
HCN1     REACH000173chr5:
45537192-45537192
ACintronicDe novo--Trost2022 G
HCN1     2-1549-003chr5:
46223016-46223016
CTintergenicDe novo--Yuen2017 G
HCN1     1-1131-003chr5:
45485303-45485303
GAintronicDe novo--Trost2022 G
HCN1     1-0552-004chr5:
45502725-45502725
GTintronicDe novo--Trost2022 G
HCN1     AU3881302chr5:
45754429-45754429
TCintergenicDe novo--Yuen2017 G
HCN1     MSSNG00167-003chr5:
45471324-45471324
CTintronicDe novo--Trost2022 G
HCN1     MSSNG00424-003chr5:
45478838-45478838
GAintronicDe novo--Trost2022 G
HCN1     5-0003-003chr5:
46014065-46014065
TTCintergenicDe novo--Yuen2017 G
HCN1     AU3874303chr5:
46154898-46154898
CTintergenicDe novo--Yuen2017 G
HCN1     AU2504301chr5:
45615142-45615142
AGintronicDe novo--Trost2022 G
HCN1     MSSNG00329-003chr5:
45642838-45642838
ATintronicDe novo--Trost2022 G
HCN1     AU2303301chr5:
45584750-45584750
GGTintronicDe novo--Trost2022 G
HCN1     7-0461-004chr5:
45586874-45586874
AGintronicDe novo--Trost2022 G
HCN1     3-0777-000chr5:
45560434-45560434
TAintronicDe novo--Trost2022 G
HCN1     1-0443-003chr5:
45893815-45893815
CTintergenicDe novo--Yuen2016 G
HCN1     MSSNG00394-003chr5:
45581989-45581989
CTintronicDe novo--Trost2022 G
HCN1     2-1429-003chr5:
46142917-46142917
GAintergenicDe novo--Yuen2017 G
HCN1     AU4260303chr5:
45343749-45343749
AGintronicDe novo--Trost2022 G
Yuen2017 G
HCN1     5-0041-003chr5:
45379821-45379821
CGintronicDe novo--Trost2022 G
Yuen2017 G
HCN1     7-0219-003chr5:
45792273-45792273
TAintergenicDe novo--Yuen2017 G
HCN1     1-0043-003chr5:
45545344-45545344
GGTCTintronicDe novo--Yuen2017 G
HCN1     SP0215553chr5:
45462097-45462097
TGexonicnonsynonymous SNVNM_021072c.A862Cp.T288P25.2-Zhou2022 GE
HCN1     2-0143-004chr5:
46115047-46115047
CGintergenicDe novo--Yuen2017 G
HCN1     1-0541-004chr5:
45697991-45697991
TAintergenicDe novo--Yuen2017 G
HCN1     2-1397-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
HCN1     2-1292-003chr5:
45939675-45939675
GTintergenicDe novo--Yuen2017 G
HCN1     1-0756-005chr5:
45958446-45958446
TGintergenicDe novo--Yuen2017 G
HCN1     1-0344-003chr5:
45850350-45850350
AGintergenicDe novo--Yuen2017 G
HCN1     AU0636303chr5:
46346434-46346434
GAintergenicDe novo--Yuen2017 G
HCN1     AU3787303chr5:
46181028-46181028
TGintergenicDe novo--Yuen2017 G
HCN1     AU3787303chr5:
46185415-46185415
GCintergenicDe novo--Yuen2017 G
HCN1     3-0442-000chr5:
45719545-45719545
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
HCN1     2-1086-004chr5:
46097669-46097669
CTintergenicDe novo--Yuen2017 G
HCN1     7-0140-003chr5:
45917514-45917514
AGintergenicDe novo--Yuen2017 G
HCN1     AU021204chr5:
46311303-46311303
TCintergenicDe novo--Yuen2017 G
HCN1     1-0330-004chr5:
45434444-45434444
TCintronicDe novo--Trost2022 G
Yuen2017 G
HCN1     2-1605-003chr5:
46187047-46187047
GAintergenicDe novo--Yuen2017 G
HCN1     5-0025-004chr5:
46186620-46186620
CTintergenicDe novo--Yuen2017 G
HCN1     3-0185-000chr5:
45389151-45389151
CGintronicDe novo--Trost2022 G
Yuen2017 G
HCN1     7-0452-003chr5:
45262460-45262460
TGexonicDe novononsynonymous SNVNM_021072c.A2236Cp.T746P9.602-Trost2022 G
Zhou2022 GE
HCN1     7-0452-003chr5:
45262458-45262458
ATexonicDe novosynonymous SNVNM_021072c.T2238Ap.T746T--Trost2022 G
Zhou2022 GE
HCN1     14257.p1chr5:
45645679-45645679
TCexonicnonsynonymous SNVNM_021072c.A457Gp.M153V14.74-Zhou2022 GE
HCN1     1-0329-003chr5:
45974429-45974429
GTintergenicDe novo--Yuen2017 G
HCN1     2-1174-006chr5:
45977305-45977305
CTintergenicDe novo--Yuen2017 G
HCN1     AU047904chr5:
45722024-45722028
GCACAGCAintergenicDe novo--Yuen2017 G
HCN1     2-1461-003chr5:
46056355-46056355
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
HCN1     5-0033-004chr5:
45950304-45950304
AGintergenicDe novo--Yuen2017 G
HCN1     AU2950301chr5:
45905138-45905138
CTintergenicDe novo--Yuen2017 G
HCN1     AU3809302chr5:
45829466-45829466
TAintergenicDe novo--Yuen2017 G
HCN1     AU3809302chr5:
45885731-45885731
GTintergenicDe novo--Yuen2017 G
HCN1     1-0190-003chr5:
45562690-45562690
ACintronicDe novo--Trost2022 G
Yuen2017 G
HCN1     1-0092-003chr5:
46229555-46229555
TCintergenicDe novo--Yuen2017 G
HCN1     7-0179-003chr5:
45561915-45561915
TCintronicDe novo--Trost2022 G
Yuen2017 G
HCN1     AU2139305chr5:
45331118-45331118
TCintronicDe novo--Trost2022 G
Yuen2017 G
HCN1     1-0339-003chr5:
45624664-45624664
AGintronicDe novo--Trost2022 G
Yuen2017 G
HCN1     AU4359301chr5:
45899297-45899297
CAintergenicDe novo--Yuen2017 G
HCN1     1-0357-003chr5:
46039591-46039591
AGintergenicDe novo--Yuen2017 G
HCN1     AU1952305chr5:
46225514-46225514
ACintergenicDe novo--Yuen2017 G
HCN1     AU3302302chr5:
45383086-45383086
ACintronicDe novo--Trost2022 G
Yuen2017 G
HCN1     1-0458-003chr5:
46157375-46157375
CTintergenicDe novo--Yuen2017 G
HCN1     1-0458-003chr5:
46125583-46125583
TCintergenicDe novo--Yuen2017 G
HCN1     2-1177-003chr5:
45337404-45337404
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
HCN1     1-0458-003chr5:
46124664-46124664
AGintergenicDe novo--Yuen2017 G
HCN1     1-0459-003chr5:
45954922-45954922
CTintergenicDe novo--Yuen2017 G
HCN1     2-0003-003chr5:
45618091-45618091
CAintronicDe novo--Trost2022 G
Yuen2017 G
HCN1     2-1089-003chr5:
45974409-45974409
GCintergenicDe novo--Yuen2017 G
HCN1     2-0149-005chr5:
45528427-45528427
TCintronicDe novo--Trost2022 G
Yuen2017 G
HCN1     1-0067-004chr5:
45974429-45974429
GTintergenicDe novo--Yuen2017 G
HCN1     1-0627-006chr5:
45803891-45803891
TCintergenicDe novo--Yuen2017 G
HCN1     AU3903301chr5:
46348394-46348394
TCintergenicDe novo--Yuen2017 G
HCN1     12662.p1chr5:
45651925-45651925
CTintronicDe novo--Wilfert2021 G
HCN1     1-0269-005chr5:
45950290-45950290
GCintergenicDe novo--Yuen2017 G
HCN1     5-0146-003chr5:
45339048-45339048
GCintronicDe novo--Trost2022 G
Yuen2017 G
HCN1     2-0109-003chr5:
46164482-46164482
AGintergenicDe novo--Yuen2017 G
HCN1     5-0004-003chr5:
46187035-46187035
GCintergenicDe novo--Yuen2017 G
HCN1     2-1107-003chr5:
45895623-45895623
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
HCN1     SMHC00817s000chr5:
45267283-45267283
AGexonicDe novononsynonymous SNVNM_021072c.T1691Cp.L564P19.35-Yuan2023 E
HCN1     2-1210-003chr5:
46039591-46039591
AGintergenicDe novo--Yuen2017 G
HCN1     AU2381302chr5:
45645864-45645864
ATintronicDe novo--Yuen2017 G
HCN1     1-0826-004chr5:
46270483-46270483
AGintergenicDe novo--Yuen2017 G
HCN1     AU2381302chr5:
45689174-45689174
GAintronicDe novo--Yuen2017 G
HCN1     1-0201-005chr5:
45938101-45938101
GCintergenicDe novo--Yuen2017 G
HCN1     3-0216-000chr5:
46222338-46222338
CTintergenicDe novo--Yuen2017 G
HCN1     AU4394302chr5:
45773149-45773149
GAintergenicDe novo--Yuen2017 G
HCN1     7-0024-005chr5:
46150975-46150975
GAintergenicDe novo--Yuen2017 G
HCN1     1-0278-003chr5:
46012350-46012350
GTintergenicDe novo--Yuen2016 G
HCN1     AU4306302chr5:
45906067-45906067
ACintergenicDe novo--Yuen2017 G
HCN1     1-0175-003chr5:
46012382-46012382
AGintergenicDe novo--Yuen2017 G
HCN1     1-0998-003chr5:
45754379-45754379
GAintergenicDe 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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