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Mutation Direct

Effortless mutation search and display tool

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Gene: COL7A1 & Disease: BWS, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
17463	COL7A1	c.6205C>T	p.Arg2069Cys (p.R2069C)	NM_000094.4 M	SNV	P	13 +	5
17462	COL7A1	c.706C>T	p.Arg236Ter (p.R236X)	NM_000094.4 M	SNV	P	6 +	2

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