Variant Results

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Results for "EFCAB5"

Variant Events: 5

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
EFCAB5	5-0033-004	chr17: 28290828-28290828	T	TGGGA	intronic		De novo					-	-	Yuen2017 G
EFCAB5	Cukier2014:17678	chr17: 28268857-28268857	G	A	splicing		Unknown	splicing				12.7	0.007	Cukier2014 E
EFCAB5	AU4067303	chr17: 28397650-28397650	A	G	intronic		De novo					-	-	Yuen2017 G
EFCAB5	1-0531-003	chr17: 28360885-28360885	T	C	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
EFCAB5	13590.p1	Complex Event; expand row to view variants					De novo	frameshift deletion	NM_001145053 NM_001145053	c.2543delT c.2542delT	p.F848fs p.F848fs	-	-	Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Willsey2013 E

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Paper Information

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