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Gene: CAPN3 & Disease: MA, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
17621	CAPN3	c.550del	p.Thr184fs (p.T184fs)	NM_000070.3 M	Del	P	11 +	32
	CAPN3	c.550delA	--	NM_000070.3 M	Del	P	11 +	32
	CAPN3	c.549delA	--	NM_000070.3 M	Del	P	11 +	32
	CAPN3	c.550del	p.Thr184fs (p.T184fs)	NM_024344.2	Del	P	11 +	32
	CAPN3	c.550del	p.Thr184fs (p.T184fs)	NM_173087.2	Del	P	11 +	32
92408	CAPN3	c.1746-20C>G	--	NM_000070.3 M	SNV	P	8 +	13
	CAPN3	c.1746-20C>G	--	NM_024344.2	SNV	P	8 +	13
	CAPN3	c.1602-20C>G	--	NM_173087.2	SNV	P	8 +	13
	CAPN3	c.210-20C>G	--	NM_173088.2	SNV	P	8 +	13

9 Results, 20 per Page

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