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Results for "DNAH10"

Variant Events: 40

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
DNAH10     ASC_18D953chr12:
124366229-124366229
GAexonicDe novononsynonymous SNVNM_207437c.G8338Ap.D2780N20.2-Fu2022 E
DNAH10     DEASD_2049_002chr12:
124278540-124278540
CTintronicDe novo--Fu2022 E
DNAH10     1-0834-003chr12:
124299670-124299670
CAintronicDe novo--Yuen2017 G
DNAH10     AU3702306chr12:
124358139-124358139
CTexonicDe novononsynonymous SNVNM_207437c.C7466Tp.T2489M29.24.177E-5Yuen2017 G
DNAH10     13293.p1chr12:
124377792-124377792
CTexonicDe novononsynonymous SNVNM_207437c.C8654Tp.A2885V27.85.117E-5Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
DNAH10     3-0027-001chr12:
124383277-124383277
CAexonicDe novononsynonymous SNVNM_207437c.C9202Ap.L3068M18.33-Yuen2015 G
DNAH10     SP0026495chr12:
124399464-124399464
CTexonicDe novononsynonymous SNVNM_207437c.C10286Tp.A3429V29.6-Fu2022 E
DNAH10     14248.p1chr12:
124303750-124303750
GAexonicDe novo, Mosaicnonsynonymous SNVNM_207437c.G3599Ap.R1200H18.069.211E-6Ji2016 E
Krumm2015 E
Krupp2017 E
Satterstrom2020 E
DNAH10     3-0027-001chr12:
124382336-124382336
GAexonicDe novosynonymous SNVNM_207437c.G8946Ap.P2982P-1.66E-5Yuen2015 G
DNAH10     SP0040263chr12:
124395303-124395303
AAGGGintronicDe novo--Fu2022 E
DNAH10     SP0005528chr12:
124355967-124355967
GAintronicDe novo--Fu2022 E
DNAH10     SP0097493chr12:
124409041-124409041
ACintronicDe novo--Fu2022 E
DNAH10     SP0072844chr12:
124399389-124399389
TAintronicDe novo--Fu2022 E
DNAH10     SP0051072chr12:
124270564-124270564
TTGTTTAAGintronicDe novo--Fu2022 E
DNAH10     SP0057026chr12:
124293358-124293358
TCexonicDe novononsynonymous SNVNM_207437c.T2648Cp.F883S14.59-Fu2022 E
DNAH10     SP0116686chr12:
124305068-124305068
TCintronicDe novo--Fu2022 E
DNAH10     SP0124014chr12:
124278597-124278597
GAintronicDe novo-8.173E-5Fu2022 E
DNAH10     iHART1547chr12:
124416338-124416338
GTexonicPaternalstopgainNM_207437c.G12718Tp.E4240X55.02.0E-4Ruzzo2019 G
DNAH10     PN400367chr12:
124393848-124393848
GAexonicUnknownnonsynonymous SNVNM_207437c.G9502Ap.E3168K37.0-Leblond2019 E
DNAH10     AU066818chr12:
124287179-124287179
TAintronicDe novo--Yuen2017 G
DNAH10     iHART2515chr12:
124284802-124284802
GTexonicMaternalstopgainNM_207437c.G1975Tp.G659X36.0-Ruzzo2019 G
DNAH10     SP0145800chr12:
124413180-124413180
ACintronicDe novo--Fu2022 E
DNAH10     SP0074176chr12:
124411410-124411410
GTintronicDe novo--Fu2022 E
DNAH10     iHART1459chr12:
124364349-124364349
GTsplicingPaternalsplicing25.94.173E-5Ruzzo2019 G
DNAH10     iHART1457chr12:
124364349-124364349
GTsplicingPaternalsplicing25.94.173E-5Ruzzo2019 G
DNAH10     Cukier2014:7936chr12:
124356105-124356105
GTexonicUnknownnonsynonymous SNVNM_207437c.G7387Tp.A2463S31.0-Cukier2014 E
DNAH10     AU4183301chr12:
124269563-124269563
TAintronicDe novo--Yuen2017 G
DNAH10     Cukier2014:7936chr12:
124401027-124401027
CAexonicUnknownnonsynonymous SNVNM_207437c.C10392Ap.D3464E18.10.0116Cukier2014 E
DNAH10     80001100931chr12:
124413877-124413877
AGexonicDe novononsynonymous SNVNM_207437c.A12008Gp.K4003R18.654.466E-5Fu2022 E
Satterstrom2020 E
DNAH10     10C117842chr12:
124362265-124362265
TGintronicDe novo-8.982E-5Satterstrom2020 E
DNAH10     Viggiano2022:22.3chr12:
124323008-124323008
GAexonicPaternalnonsynonymous SNVNM_207437c.G4554Ap.M1518I24.11.035E-5Viggiano2022 GT
DNAH10     Viggiano2022:22.4chr12:
124323008-124323008
GAexonicPaternalnonsynonymous SNVNM_207437c.G4554Ap.M1518I24.11.035E-5Viggiano2022 GT
DNAH10     3-0431-000chr12:
124371625-124371627
CGGCGGGintronicDe novo--Yuen2017 G
DNAH10     14273.p1chr12:
124289434-124289434
ATexonicDe novononsynonymous SNVNM_207437c.A2480Tp.H827L11.43-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
DNAH10     Lim2017:36058chr12:
124303750-124303750
GAexonicMosaicnonsynonymous SNVNM_207437c.G3599Ap.R1200H18.069.211E-6Lim2017 E
DNAH10     SSC11222chr12:
124289434-124289434
ATexonicDe novononsynonymous SNVNM_207437c.A2480Tp.H827L11.43-Fu2022 E
Lim2017 E
DNAH10     AU046904chr12:
124369577-124369577
AGintronicDe novo--Yuen2017 G
DNAH10     F10043-1chr12:
124330358-124330364
ACTGTTCAexonicDe novononframeshift deletionNM_207437c.5219_5224delp.1740_1742del--Fu2022 E
Satterstrom2020 E
DNAH10     SSC08042chr12:
124377792-124377792
CTexonicDe novononsynonymous SNVNM_207437c.C8654Tp.A2885V27.85.117E-5Fu2022 E
Lim2017 E
DNAH10     2-0102-003chr12:
124413069-124413069
CTexonicDe novononsynonymous SNVNM_207437c.C11887Tp.R3963C33.02.344E-5Yuen2015 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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