Variant Results

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Results for "KLHL26"

Variant Events: 9

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
KLHL26	Chen2017:23	chr19: 18778486-18778486	C	T	exonic		De novo	synonymous SNV	NM_018316	c.C279T	p.T93T	-	6.07E-5	Chen2017 E
KLHL26	14496.p1	chr19: 18762668-18762668	A	G	intronic		De novo					-	-	Turner2016 G
KLHL26	1-0755-003	chr19: 18761119-18761119	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
KLHL26	200675376_1082034681	chr19: 18778486-18778486	C	T	exonic		De novo	synonymous SNV	NM_018316	c.C279T	p.T93T	-	6.07E-5	Fu2022 E
KLHL26	200675376@1082034681	chr19: 18778486-18778486	C	T	exonic		De novo	synonymous SNV	NM_018316	c.C279T	p.T93T	-	6.07E-5	Satterstrom2020 E Trost2022 G Zhou2022 GE
KLHL26	21742-34594	chr19: 18778860-18778860	T	C	exonic		Inherited	nonsynonymous SNV	NM_018316	c.T653C	p.L218P	18.19	-	Callaghan2019 G
KLHL26	SP0052969	chr19: 18775114-18775114	C	G	exonic		De novo	nonsynonymous SNV	NM_018316	c.C127G	p.P43A	1.036	-	Fu2022 E Trost2022 G Zhou2022 GE
KLHL26	1792_17AU	chr19: 18778972-18778972	C	T	exonic		De novo	synonymous SNV	NM_018316	c.C765T	p.L255L	-	-	Fu2022 E
KLHL26	MSSNG00032-004	chr19: 18767120-18767120	G	T	intronic		De novo					-	-	Trost2022 G

Source Variant Information

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Paper Information

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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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