Variant Results

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Results for "HEY1"

Variant Events: 6

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
HEY1	REACH000345	chr8: 80675279-80675279	G	C	downstream		De novo					-	-	Trost2022 G
HEY1	5-5015-003	chr8: 80677266-80677270	AAAGT	A	UTR3		De novo					-	-	Trost2022 G
HEY1	SP0035216	chr8: 80678479-80678479	T	C	exonic		De novo	nonsynonymous SNV	NM_001282851	c.A20G	p.N7S	8.199	-	Fu2022 E Zhou2022 GE
HEY1	SP0120795	chr8: 80677892-80677892	G	A	exonic		De novo	nonsynonymous SNV	NM_001282851 NM_001040708 NM_012258	c.C176T c.C458T c.C446T	p.P59L p.P153L p.P149L	25.0	-	Fu2022 E Trost2022 G Zhou2022 GE
HEY1	11250.p1	chr8: 80677553-80677553	G	A	exonic		De novo	nonsynonymous SNV	NM_001282851 NM_001040708 NM_012258	c.C515T c.C797T c.C785T	p.S172L p.S266L p.S262L	17.27	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Lim2017 E Zhou2022 GE
HEY1	7-0071-003	chr8: 80677575-80677575	G	A	exonic		De novo	nonsynonymous SNV	NM_001282851 NM_001040708 NM_012258	c.C493T c.C775T c.C763T	p.L165F p.L259F p.L255F	14.54	-	Trost2022 G Zhou2022 GE

Source Variant Information

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Paper Information

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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.
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