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Gene: RPL27 & Disease: DBA16, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1243778	RPL27	c.362+17A>C	--	NM_000988.5 M	SNV	B	1 +	2
1683516	RPL27	c.403C>T	p.Arg135Trp (p.R135W)	NM_000988.5 M	SNV	VUS	1 +	2
1243778	RPL27	c.362+17A>C	--	NM_001349921.2	SNV	B	1 +	2
1243778	RPL27	c.362+17A>C	--	NM_001349922.2	SNV	B	1 +	2
1683516	RPL27	c.403C>T	p.Arg135Trp (p.R135W)	NM_001349921.2	SNV	VUS	1 +	2
1683516	RPL27	c.403C>T	p.Arg135Trp (p.R135W)	NM_001349922.2	SNV	VUS	1 +	2
417776	RPL27	c.-2-1G>A	--	NM_000988.5 M	SNV	P	1 +	1
	RPL27	c.-3G>A	--	NM_001349922.2	SNV	P	1 +	1
	RPL27	c.-2-1G>A	--	NM_001349921.2	SNV	P	1 +	1

9 Results, 20 per Page

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