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Mutation Direct

Effortless mutation search and display tool

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Gene: KARS1 & Disease: Leukodystrophy, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
694746	KARS1	c.1493C>T	p.Ala498Val (p.A498V)	NM_005548.3 M	SNV	P	4 +	3
	KARS1	c.1577C>T	p.Ala526Val (p.A526V)	NM_001130089.2	SNV	P	4 +	3
	KARS1	c.1025C>T	p.Ala342Val (p.A342V)	NM_001378148.1	SNV	P	4 +	3

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