Variant Results

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Results for "TRUB1"

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
TRUB1	AU061104	chr10: 116708531-116708531	A	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
TRUB1	1-0357-003	chr10: 116700695-116700695	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
TRUB1	mAGRE3078	chr10: 116730198-116730199	CT	C	exonic		Paternal	frameshift deletion	NM_139169	c.596delT	p.L199fs	-	1.0E-4	Cirnigliaro2023 G
TRUB1	mAGRE3077	chr10: 116730198-116730199	CT	C	exonic		Paternal	frameshift deletion	NM_139169	c.596delT	p.L199fs	-	1.0E-4	Cirnigliaro2023 G
TRUB1	14675.p1	chr10: 116730168-116730168	T	C	exonic		De novo	nonsynonymous SNV	NM_139169	c.T565C	p.F189L	28.8	-	Ji2016 E Krumm2015 E Satterstrom2020 E Zhou2022 GE
TRUB1	AU2100302	chr10: 116710524-116710524	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
TRUB1	11205.p1	chr10: 116698044-116698044	C	A	exonic		Mosaic	stopgain	NM_139169	c.C32A	p.S11X	26.0	-	Dou2017 E
TRUB1	iHART3077	chr10: 116730198-116730199	CT	C	exonic		Paternal	frameshift deletion	NM_139169	c.596delT	p.L199fs	-	1.0E-4	Ruzzo2019 G
TRUB1	SSC12398	chr10: 116730168-116730168	T	C	exonic		De novo	nonsynonymous SNV	NM_139169	c.T565C	p.F189L	28.8	-	Fu2022 E Lim2017 E Trost2022 G
TRUB1	iHART3078	chr10: 116730198-116730199	CT	C	exonic		Paternal	frameshift deletion	NM_139169	c.596delT	p.L199fs	-	1.0E-4	Ruzzo2019 G

Source Variant Information

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Paper Information

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