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Gene: CAPN3 & Disease: LGMD, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
282173	CAPN3	c.1303G>A	p.Glu435Lys (p.E435K)	NM_000070.3 M	SNV	P	4 +	10
	CAPN3	c.1303G>A	p.Glu435Lys (p.E435K)	NM_024344.2	SNV	P	4 +	10
	CAPN3	c.1159G>A	p.Glu387Lys (p.E387K)	NM_173087.2	SNV	P	4 +	10
1001331	CAPN3	c.847A>G	p.Met283Val (p.M283V)	NM_000070.3 M	SNV	VUS	3 +	4
	CAPN3	c.847A>G	p.Met283Val (p.M283V)	NM_024344.2	SNV	VUS	3 +	4
	CAPN3	c.801+902A>G	--	NM_173087.2	SNV	VUS	3 +	4
1180773	CAPN3	c.661G>T	p.Gly221Cys (p.G221C)	NM_000070.3 M	SNV	P	1 +	1
	CAPN3	c.661G>T	p.Gly221Cys (p.G221C)	NM_024344.2	SNV	P	1 +	1
	CAPN3	c.661G>T	p.Gly221Cys (p.G221C)	NM_173087.2	SNV	P	1 +	1

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