Variant Results

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Results for "ZWILCH"

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
ZWILCH	iHART2367	chr15: 66832550-66832550	T	C	splicing		Maternal	splicing				13.89	2.493E-5	Ruzzo2019 G
ZWILCH	12859.p1	Complex Event; expand row to view variants					De novo					-	8.259E-6	Iossifov2012 E Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
ZWILCH	14175.p1	Complex Event; expand row to view variants					De novo	stopgain, frameshift insertion	NM_001287822 NM_001287823 NM_001287821 NM_017975 NM_001287822 NM_001287823 NM_001287821 NM_017975 NM_001287822 NM_001287823 NM_001287821 NM_017975	c.1364_1365insG c.1364_1365insG c.1364_1365insG c.1706_1707insG c.1365_1366insG c.1365_1366insG c.1365_1366insG c.1707_1708insG c.1364_1365insGTAATTCCTGTGTTAACACTG c.1364_1365insGTAATTCCTGTGTTAACACTG c.1364_1365insGTAATTCCTGTGTTAACACTG c.1706_1707insGTAATTCCTGTGTTAACACTG	p.L455fs p.L455fs p.L455fs p.L569fs p.L455fs p.L455fs p.L455fs p.L569fs p.L455delinsLX p.L455delinsLX p.L455delinsLX p.L569delinsLX	-	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G
ZWILCH	iHART2366	chr15: 66832550-66832550	T	C	splicing		Maternal	splicing				13.89	2.493E-5	Ruzzo2019 G
ZWILCH	iHART3051	chr15: 66820193-66820193	A	G	splicing		Maternal	splicing				17.94	-	Ruzzo2019 G
ZWILCH	1-0551-003	chr15: 66809135-66809135	C	T	intronic		De novo					-	-	Yuen2017 G
ZWILCH	2-0070-003	chr15: 66821214-66821214	G	GC	exonic		De novo	frameshift insertion	NM_001287822 NM_001287823 NM_001287821 NM_017975	c.652_653insC c.652_653insC c.652_653insC c.994_995insC	p.V218fs p.V218fs p.V218fs p.V332fs	-	-	Yuen2015 G
ZWILCH	7-0100-003	chr15: 66803818-66803818	G	A	intronic		De novo					-	-	Yuen2017 G
ZWILCH	SP0130223	chr15: 66832473-66832473	G	A	exonic		De novo	nonsynonymous SNV	NM_001287822 NM_001287823 NM_001287821 NM_017975	c.G1270A c.G1270A c.G1270A c.G1612A	p.G424S p.G424S p.G424S p.G538S	11.33	3.296E-5	Fu2022 E

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Paper Information

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