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Gene: RPS29 & Disease: DBA13, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1293204	RPS29	c.163-4del	--	NM_001032.5 M	Del	LB	1 +	2
	RPS29	c.162+2271del	--	NM_001030001.4	Del	LB	1 +	2
	RPS29	c.154-4del	--	NM_001351375.2	Del	LB	1 +	2
140738	RPS29	c.91A>T	p.Ile31Phe (p.I31F)	NM_001032.5 M	SNV	P	1 +	1
140739	RPS29	c.149T>C	p.Ile50Thr (p.I50T)	NM_001032.5 M	SNV	P	1 +	1
813931	RPS29	c.63-6T>G	--	NM_001032.5 M	SNV	VUS	1 +	1
140738	RPS29	c.91A>T	p.Ile31Phe (p.I31F)	NM_001030001.4	SNV	P	1 +	1
140738	RPS29	c.82A>T	p.Ile28Phe (p.I28F)	NM_001351375.2	SNV	P	1 +	1
140739	RPS29	c.149T>C	p.Ile50Thr (p.I50T)	NM_001030001.4	SNV	P	1 +	1
140739	RPS29	c.140T>C	p.Ile47Thr (p.I47T)	NM_001351375.2	SNV	P	1 +	1
813931	RPS29	c.63-6T>G	--	NM_001030001.4	SNV	VUS	1 +	1
813931	RPS29	c.54-6T>G	--	NM_001351375.2	SNV	VUS	1 +	1

12 Results, 20 per Page

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