Variant Results

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Results for "NUP153"

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
NUP153	PN400512	chr6: 17649494-17649494	G	A	exonic		Unknown	nonsynonymous SNV	NM_001278210 NM_005124 NM_001278209	c.C1433T c.C1433T c.C1526T	p.P478L p.P478L p.P509L	19.05	0.0065	Leblond2019 E
NUP153	AU2793303	chr6: 17643773-17643773	C	T	intronic		De novo					-	-	Yuen2017 G
NUP153	SP0058507	chr6: 17628957-17628957	G	C	exonic		De novo	nonsynonymous SNV	NM_001278210 NM_005124 NM_001278209	c.C3347G c.C3473G c.C3566G	p.P1116R p.P1158R p.P1189R	16.26	-	Fu2022 E
NUP153	1-0526-003	chr6: 17729928-17729928	A	AT	intergenic		De novo					-	-	Yuen2017 G
NUP153	74-0765	chr6: 17626137-17626137	G	C	exonic		Inherited	nonsynonymous SNV	NM_001278210 NM_005124 NM_001278209	c.C3677G c.C3803G c.C3896G	p.T1226R p.T1268R p.T1299R	15.29	2.472E-5	Patowary2019 E
NUP153	A28	chr6: 17707074-17707074	T	C	upstream		De novo					-	-	Wu2018 G
NUP153	2-1357-004	chr6: 17742699-17742699	C	G	intergenic		De novo					-	-	Yuen2017 G
NUP153	DEASD_1087_001	chr6: 17648171-17648171	A	G	intronic		De novo					-	-	Satterstrom2020 E
NUP153	AU3680302	chr6: 17624050-17624050	A	G	intronic		De novo					-	-	Yuen2017 G
NUP153	G01-GEA-3-HI(	chr6: 17629408-17629408	C	G	exonic		De novo	nonsynonymous SNV	NM_001278210 NM_005124 NM_001278209	c.G2896C c.G3022C c.G3115C	p.E966Q p.E1008Q p.E1039Q	3.503	-	Satterstrom2020 E

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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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