Variant Results

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Results for "FCRL6"

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
FCRL6	PN400457	chr1: 159779392-159779392	C	T	exonic		Unknown	stopgain	NM_001004310 NM_001284217	c.C805T c.C826T	p.Q269X p.Q276X	10.71	3.0E-4	Leblond2019 E
FCRL6	PN400412	chr1: 159779392-159779392	C	T	exonic		Unknown	stopgain	NM_001004310 NM_001284217	c.C805T c.C826T	p.Q269X p.Q276X	10.71	3.0E-4	Leblond2019 E
FCRL6	11524.p1	chr1: 159778750-159778750	G	A	splicing		De novo	splicing				11.07	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Sanders2012 E Satterstrom2020 E Willsey2013 E Zhou2022 GE
FCRL6	PN400480	chr1: 159779392-159779392	C	T	exonic		Unknown	stopgain	NM_001004310 NM_001284217	c.C805T c.C826T	p.Q269X p.Q276X	10.71	3.0E-4	Leblond2019 E
FCRL6	AU4273304	chr1: 159781247-159781247	T	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
FCRL6	SSC00558	chr1: 159778750-159778750	G	A	splicing		De novo	splicing				11.07	-	Fu2022 E Lim2017 E Trost2022 G
FCRL6	SP0011809	chr1: 159772120-159772120	A	C	intronic		De novo					-	-	Fu2022 E
FCRL6	PN400523	chr1: 159779392-159779392	C	T	exonic		Unknown	stopgain	NM_001004310 NM_001284217	c.C805T c.C826T	p.Q269X p.Q276X	10.71	3.0E-4	Leblond2019 E
FCRL6	PN400301	chr1: 159779392-159779392	C	T	exonic		Unknown	stopgain	NM_001004310 NM_001284217	c.C805T c.C826T	p.Q269X p.Q276X	10.71	3.0E-4	Leblond2019 E
FCRL6	MT_166.3	chr1: 159774236-159774236	G	A	intronic		De novo					-	-	Trost2022 G

Source Variant Information

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Paper Information

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