Gene Mutation Browser

Coriell Institute for Medical Research

Gene Mutations

Records Return: (9)

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Gene	Gene Omim Number	Disease Omim Number	Chromosome Location	Gene Mutation	Omim Phenotype	Sample Count
COL6A2	120240	254090	21q22.3	1770+1delG	ULLRICH CONGENITAL MUSCULAR DYSTROPHY	1
COL6A2	120240	120240	21q22.3	955-2A>G	ULLRICH CONGENITAL MUSCULAR DYSTROPHY	1
COL6A2	120240	254090	21q22.3	c.1402C>T (p.Arg468Ter)	ULLRICH CONGENITAL MUSCULAR DYSTROPHY	2
COL6A2	120240	254090	21q22.3	c.1970-3C>A	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1	2
COL6A2	120240	254090	21q22.3	c.954+20_+55del36	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1	2
COL6A2	120240	254090	21q22.3	GLY301SER	ULLRICH CONGENITAL MUSCULAR DYSTROPHY	1
COL6A2	120240	254090	21q22.3	IVS6-3C>G	ULLRICH CONGENITAL MUSCULAR DYSTROPHY	2
COL6A2	120240	254090	21q22.3	LYS796TER	ULLRICH CONGENITAL MUSCULAR DYSTROPHY	2
COL6A2	120240	254090	21q22.3	PRO518SER	ULLRICH CONGENITAL MUSCULAR DYSTROPHY	1

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