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Mutation Direct

Effortless mutation search and display tool

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Gene: COL17A1 & Disease: Skin Disease, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1180606	COL17A1	c.3579G>A	p.Trp1193Ter (p.W1193X)	NM_000494.4 M	SNV	LP	1 +	7
599000	COL17A1	c.4145_4148del	p.Glu1382fs (p.E1382fs)	NM_000494.4 M	MS	P	2 +	7

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