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Gene: CAPN3 & Disease: Qualitative or Quantitative Defects of Calpain, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2412738	CAPN3	c.1333G>T	p.Gly445Ter (p.G445X)	NM_000070.3 M	SNV	P	1 +	1
	CAPN3	c.1333G>T	p.Gly445Ter (p.G445X)	NM_024344.2	SNV	P	1 +	1
	CAPN3	c.1189G>T	p.Gly397Ter (p.G397X)	NM_173087.2	SNV	P	1 +	1

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