Gene Mutation Browser

Coriell Institute for Medical Research

Gene Mutations

Records Return: (10)

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Gene	Gene Omim Number	Disease Omim Number	Chromosome Location	Gene Mutation	Allelic Variant	Omim Phenotype	Sample Count
COL6A1	120220	254090	21q22.3	1182+3G>A		ULLRICH CONGENITAL MUSCULAR DYSTROPHY	1
COL6A1	120220	254090	21q22.3	1814-6C>G		ULLRICH CONGENITAL MUSCULAR DYSTROPHY	1
COL6A1	120220	254090	21q22.3	1823-8G>A		ULLRICH CONGENITAL MUSCULAR DYSTROPHY	1
COL6A1	120220	254090	21q22.3	850G>A		ULLRICH CONGENITAL MUSCULAR DYSTROPHY	1
COL6A1	120220	254090	21q22.3	877G>A		ULLRICH CONGENITAL MUSCULAR DYSTROPHY	1
COL6A1	120220	158810	21q22.3	c.1003-1G>A		BETHLEM MYOPATHY 1	2
COL6A1	120220	158810	21q22.3	c.868G>T		BETHLEM MYOPATHY 1; BTHLM1	2
COL6A1	120220	254090	21q22.3	del exons 5-9			2
COL6A1	120220	254090	21q22.3	Ex9 del		ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1	1
COL6A1	120220	120220	21q22.3	IVS11AS, G-A, -1	0002	BETHLEM MYOPATHY	1

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