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Results for "DNAH6"

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
DNAH6     AU3648301chr2:
85026621-85026621
GAintronicDe novo--Yuen2017 G
DNAH6     AU2381302chr2:
84835261-84835261
GAintronicDe novo--Yuen2017 G
DNAH6     2-0057-004chr2:
84819606-84819606
AGintronicDe novo--Yuen2017 G
DNAH6     5-0077-003chr2:
84790582-84790582
CTintronicDe novo--Yuen2017 G
DNAH6     2-1283-003chr2:
84821301-84821301
GAintronicDe novo--Yuen2017 G
DNAH6     Cukier2014:7936chr2:
84928399-84928399
CAexonicUnknownnonsynonymous SNVNM_001370c.C7997Ap.S2666Y21.70.0017Cukier2014 E
DNAH6     11568.p1chr2:
84846793-84846793
AGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
DNAH6     2-0242-004chr2:
84959641-84959641
GAintronicDe novo--Yuen2017 G
DNAH6     AU2165301chr2:
85002590-85002590
GCintronicDe novo--Yuen2017 G
DNAH6     AU4465303chr2:
84954543-84954543
TCintronicDe novo--Yuen2017 G
DNAH6     1-0079-008chr2:
84966769-84966769
CTintronicDe novo--Yuen2017 G
DNAH6     2-0171-003chr2:
84865807-84865807
GAintronicDe novo--Yuen2017 G
DNAH6     AU4496301chr2:
85029973-85029973
TAintronicDe novo--Yuen2017 G
DNAH6     1-0150-004chr2:
84816804-84816804
GCintronicDe novo--Yuen2017 G
DNAH6     AU3124304chr2:
84860464-84860464
CTintronicDe novo--Yuen2017 G
DNAH6     2-1283-004chr2:
84821301-84821301
GAintronicDe novo--Yuen2017 G
DNAH6     DEASD_1039_001chr2:
84880809-84880809
TAexonicDe novosynonymous SNVNM_001370c.T5445Ap.G1815G--Satterstrom2020 E
DNAH6     2-1376-003chr2:
84990669-84990669
AGintronicDe novo--Yuen2016 G
Yuen2017 G
DNAH6     1-0107-003chr2:
84999540-84999557
AACACACACACACACACAAACACACACACACACAintronicDe novo--Yuen2017 G
DNAH6     2-0202-004chr2:
84791190-84791190
TGintronicDe novo--Yuen2017 G
DNAH6     AU030703chr2:
84993263-84993263
GAintronicDe novo--Yuen2017 G
DNAH6     AU012804chr2:
84826821-84826821
GTintronicDe 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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