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Gene: RPL13 & Disease: Spondyloepimetaphyseal Dysplasia, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
689800	RPL13	c.477+1G>T	--	NM_000977.4 M	SNV	P	2 +	2
689801	RPL13	c.477+2T>C	--	NM_000977.4 M	SNV	P	2 +	2
689802	RPL13	c.477+1G>A	--	NM_000977.4 M	SNV	P	2 +	2
689800	RPL13	c.336+1G>T	--	NM_001243131.1	SNV	P	2 +	2
689800	RPL13	c.477+1G>T	--	NM_033251.2	SNV	P	2 +	2
689801	RPL13	c.336+2T>C	--	NM_001243131.1	SNV	P	2 +	2
689801	RPL13	c.477+2T>C	--	NM_033251.2	SNV	P	2 +	2
689802	RPL13	c.336+1G>A	--	NM_001243131.1	SNV	P	2 +	2
689802	RPL13	c.477+1G>A	--	NM_033251.2	SNV	P	2 +	2
689803	RPL13	c.548G>T	p.Arg183Leu (p.R183L)	NM_000977.4 M	SNV	P	1 +	1
	RPL13	c.407G>T	p.Arg136Leu (p.R136L)	NM_001243131.1	SNV	P	1 +	1
	RPL13	c.548G>T	p.Arg183Leu (p.R183L)	NM_033251.2	SNV	P	1 +	1

12 Results, 20 per Page

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