Variant Results

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Results for "KRT86"

Variant Events: 4

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
KRT86	SP0018370	chr12: 52700102-52700102	A	T	intronic		De novo					-	-	Fu2022 E
KRT86	SP0076879	chr12: 52695799-52695799	T	C	exonic		De novo	synonymous SNV	NM_002284	c.T99C	p.R33R	-	1.758E-5	Fu2022 E
KRT86	14267.p1	chr12: 52695691-52695691	A	T	UTR5		De novo					-	-	Iossifov2014 E Kosmicki2017 E
KRT86	60-1057	chr12: 52695854-52695854	G	C	exonic		Inherited	nonsynonymous SNV	NM_002284	c.G154C	p.G52R	19.86	0.0042	Patowary2019 E

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Paper Information

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