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Mutation Direct

Effortless mutation search and display tool

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Gene: COL11A1 & Disease: Stickler Syndrome, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
372792	COL11A1	c.1630-2del	--	NM_001854.4 M	Del	P	2 +	4
	COL11A1	c.1513-2del	--	NM_001190709.2	Del	P	2 +	4
	COL11A1	c.1666-2del	--	NM_080629.3	Del	P	2 +	4
	COL11A1	c.1282-2del	--	NM_080630.4	Del	P	2 +	4

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