Variant Results

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Results for "KLHL12"

Variant Events: 8

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
KLHL12	2-1735-003	chr1: 202896296-202896296	G	C	UTR5		De novo					-	-	Yuen2017 G
KLHL12	AU4231301	chr1: 202880658-202880658	A	G	intronic		De novo					-	-	Yuen2017 G
KLHL12	DEASD_2071_001	chr1: 202863417-202863417	G	C	intronic		De novo					-	-	Fu2022 E
KLHL12	NDAR_INVMN966KXZ_wes1	chr1: 202863873-202863873	C	G	exonic		De novo	nonsynonymous SNV	NM_001303109 NM_001303051 NM_021633	c.G837C c.G1254C c.G1140C	p.M279I p.M418I p.M380I	16.45	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E
KLHL12	14678.p1	chr1: 202880289-202880289	C	T	exonic		Mosaic	nonsynonymous SNV	NM_001303051 NM_001303109 NM_021633	c.G724A c.G610A c.G610A	p.V242M p.V204M p.V204M	33.0	-	Dou2017 E Krupp2017 E
KLHL12	2-1292-004	chr1: 202903574-202903574	T	TGATCTAATGCA	intergenic		De novo					-	-	Yuen2017 G
KLHL12	NDAR_INVEP906YBV_wes1	chr1: 202894051-202894051	A	G	intronic		De novo					-	-	Fu2022 E Kosmicki2017 E Satterstrom2020 E
KLHL12	5-0003-004	chr1: 202880219-202880219	A	G	exonic		De novo	nonsynonymous SNV	NM_001303051 NM_001303109 NM_021633	c.T794C c.T680C c.T680C	p.L265P p.L227P p.L227P	22.4	-	Yuen2017 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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