Variant Results

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Results for "LOXL3"

Variant Events: 7

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
LOXL3	A20	Complex Event; expand row to view variants					De novo	frameshift deletion	NM_001289165 NM_001289164 NM_032603 NM_001289165 NM_001289164 NM_032603	c.1092_1095del c.1740_1743del c.2175_2178del c.1097delG c.1745delG c.2180delG	p.H364fs p.H580fs p.H725fs p.C366fs p.C582fs p.C727fs	-	-	Wu2018 G Wu2018 G
LOXL3	SP0083642	chr2: 74761623-74761623	G	T	intronic		De novo					-	-	Fu2022 E
LOXL3	iHART2007	chr2: 74761716-74761716	G	A	exonic		Maternal	stopgain	NM_001289165 NM_001289164 NM_032603	c.C682T c.C1330T c.C1765T	p.R228X p.R444X p.R589X	32.0	1.652E-5	Ruzzo2019 G
LOXL3	Li2017:20567	chr2: 74762849-74762849	C	T	exonic		Unknown	nonsynonymous SNV	NM_001289165 NM_001289164 NM_032603	c.G199A c.G847A c.G1282A	p.G67R p.G283R p.G428R	25.8	-	Li2017 T
LOXL3	Li2017:23142	chr2: 74762845-74762845	C	T	exonic		Unknown	nonsynonymous SNV	NM_001289165 NM_001289164 NM_032603	c.G203A c.G851A c.G1286A	p.R68Q p.R284Q p.R429Q	32.0	8.643E-6	Li2017 T
LOXL3	Li2017:20627	chr2: 74779722-74779722	G	GC	exonic		Unknown	frameshift insertion	NM_001289164 NM_032603	c.39dupG c.39dupG	p.L14fs p.L14fs	-	3.408E-5	Li2017 T
LOXL3	A08028-3	Complex Event; expand row to view variants					Unknown	frameshift deletion	NM_001289165 NM_001289164 NM_032603 NM_001289165 NM_001289164 NM_032603	c.1092_1095del c.1740_1743del c.2175_2178del c.1097delG c.1745delG c.2180delG	p.H364fs p.H580fs p.H725fs p.C366fs p.C582fs p.C727fs	-	-	Li2017 T Li2017 T

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Paper Information

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