Variant Results

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Results for "KNG1"

Variant Events: 10

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
KNG1	1-1070-003	chr3: 186443831-186443831	T	C	intronic		De novo					-	-	Trost2022 G
KNG1	Cukier2014:17545	chr3: 186461524-186461524	C	T	exonic		Unknown	stopgain	NM_001166451 NM_000893	c.C1126T c.C1234T	p.R376X p.R412X	38.0	0.0313	Cukier2014 E
KNG1	AU2310301	chr3: 186452732-186452732	A	G	intronic		De novo					-	-	Trost2022 G
KNG1	MSSNG00010-003	chr3: 186435600-186435600	C	CAT	intronic		De novo					-	-	Trost2022 G
KNG1	1-0197-004	chr3: 186469122-186469122	C	T	intergenic		De novo					-	-	Yuen2017 G
KNG1	5-0105-003	chr3: 186472010-186472010	C	T	intergenic		De novo					-	-	Yuen2017 G
KNG1	AU1698301	chr3: 186494144-186494144	C	T	intergenic		De novo					-	-	Yuen2017 G
KNG1	13829.p1	chr3: 186460067-186460067	A	G	exonic		De novo	nonsynonymous SNV	NM_001102416	c.A1882G	p.T628A	11.34	-	Ji2016 E Krumm2015 E Satterstrom2020 E Zhou2022 GE
KNG1	1-0541-003	chr3: 186452881-186452881	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
KNG1	SSC09521	chr3: 186460067-186460067	A	G	exonic		De novo	nonsynonymous SNV	NM_001102416	c.A1882G	p.T628A	11.34	-	Fu2022 E Lim2017 E Trost2022 G

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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