RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on May 20, 2013

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RNASEH2C

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6 unique mutation(s) annotated from 2 PubMed(s)

Sl.No	Mutation type	Genomic level change	CDS level change	RNA level change	Protein level change	Mutation effects	Expt. name	PubMed	Mutation viewer
1	Substitution	g.218G>A	c.38G>A	-	p.Arg13His	Missense defects	Direct sequencing	Rice G et al., 2007	Click here
2	Substitution	g.554C>T	c.205C>T	-	p.Arg69Trp	Missense defects	Direct sequencing	Crow YJ et al., 2006	Click here
3	Substitution	g.554C>T	c.205C>T	-	p.Arg69Trp	Missense defects	Direct sequencing	Rice G et al., 2007	Click here
4	Substitution	g.576C>T	c.227C>T	-	p.Pro76Leu	Missense defects	Direct sequencing	Rice G et al., 2007	Click here
5	Substitution	g.838C>T	c.412C>T	-	p.Pro138Leu	Missense defects	Direct sequencing	Rice G et al., 2007	Click here
6	Substitution	g.854A>T	c.428A>T	-	p.Lys143Ile	Missense defects	Direct sequencing	Crow YJ et al., 2006	Click here
7	Substitution	g.854A>T	c.428A>T	-	p.Lys143Ile	Missense defects	Direct sequencing	Rice G et al., 2007	Click here
8	Substitution	g.877C>T	c.451C>T	-	p.Pro151Ser	Missense defects	Direct sequencing	Rice G et al., 2007	Click here

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