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Mutation Direct

Effortless mutation search and display tool

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Gene: COL1A1 & Disease: EDSCL1, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1001743	COL1A1	c.2773C>G	p.Pro925Ala (p.P925A)	NM_000088.4 M	SNV	LB	3 +	2
578894	COL1A1	c.3994G>A	p.Asp1332Asn (p.D1332N)	NM_000088.4 M	SNV	LB	11 +	2

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