Variant Results

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Results for "MYB"

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
MYB	AU006804	chr6: 135575749-135575749	C	G	intergenic		De novo					-	-	Yuen2017 G
MYB	11470.p1	chr6: 135507151-135507151	G	A	exonic		De novo	nonsynonymous SNV	NM_001130172 NM_001130173 NM_001161656 NM_001161657 NM_001161658 NM_001161659 NM_001161660 NM_005375	c.G134A c.G134A c.G134A c.G134A c.G134A c.G134A c.G134A c.G134A	p.R45Q p.R45Q p.R45Q p.R45Q p.R45Q p.R45Q p.R45Q p.R45Q	35.0	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Sanders2012 E Satterstrom2020 E Turner2017 G Wilfert2021 G
MYB	AU3702307	chr6: 135537375-135537375	G	A	intronic		De novo					-	-	Yuen2017 G
MYB	1-0569-003	chr6: 135503436-135503452	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	intronic		De novo					-	-	Yuen2017 G
MYB	SSC02938	chr6: 135507151-135507151	G	A	exonic		De novo	nonsynonymous SNV	NM_001130172 NM_001130173 NM_001161656 NM_001161657 NM_001161658 NM_001161659 NM_001161660 NM_005375	c.G134A c.G134A c.G134A c.G134A c.G134A c.G134A c.G134A c.G134A	p.R45Q p.R45Q p.R45Q p.R45Q p.R45Q p.R45Q p.R45Q p.R45Q	35.0	-	Lim2017 E
MYB	MR_593	chr6: 135560437-135560437	G	A	intergenic		De novo					-	1.0E-4	Satterstrom2020 E

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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