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Gene: ASAH1 & Disease: KLDF, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
417797	ASAH1	c.1154T>C	p.Leu385Pro (p.L385P)	NM_177924.5 M	SNV	P	1 +	2
	ASAH1	c.1136T>C	p.Leu379Pro (p.L379P)	NM_001127505.3	SNV	P	1 +	2
	ASAH1	c.959T>C	p.Leu320Pro (p.L320P)	NM_001363743.2	SNV	P	1 +	2
	ASAH1	c.1202T>C	p.Leu401Pro (p.L401P)	NM_004315.6	SNV	P	1 +	2

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