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Mutation Direct

Effortless mutation search and display tool

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Gene: NDUFA13 & Disease: MC1DN28, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
132643	NDUFA13	c.170G>A	p.Arg57His (p.R57H)	NM_015965.7 M	SNV	P	2 +	2
2434082	NDUFA13	c.2T>C	p.Met1Thr (p.M1T)	NM_015965.7 M	SNV	VUS	1 +	1
2441769	NDUFA13	c.44dup	p.Tyr16fs (p.Y16fs)	NM_015965.7 M	Dup	LP	2 +	1

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