Gene Mutation Browser

Coriell Institute for Medical Research

Gene Mutations

Records Return: (15)

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Gene	Gene Omim Number	Disease Omim Number	Chromosome Location	Gene Mutation	Allelic Variant	Omim Phenotype	Sample Count
GALT	606999	230400	9p13	ARG333TRP	0002	GALACTOSEMIA	3
GALT	606999	230400	9p13	ASN314ASP	0005	DUARTE VARIANT	2
GALT	606999	230400	9p13	ASP98HIS		GALACTOSEMIA	2
GALT	606999	230400	9p13	EX1-11DEL		GALACTOSEMIA	1
GALT	606999	230400	9p13	GLN188ARG	0006	GALACTOSEMIA	26
GALT	606999	230400	9p13	GLN344LYS		GALACTOSEMIA	1
GALT	606999	230400	9p13	HIS315HIS		GALACTOSEMIA (POLYMORPHISM)	1
GALT	606999	230400	9p13	LEU195PRO		GALACTOSEMIA	1
GALT	606999	230400	9p13	LEU74PRO	0007	GALACTOSEMIA	2
GALT	606999	230400	9p13	LYS285ASN	0013	GALACTOSEMIA	4
GALT	606999	230400	9p13	MET142LYS	0001	GALACTOSEMIA	1
GALT	606999	230400	9p13	PHE171SER	0008	GALACTOSEMIA	1
GALT	606999	230400	9p13	SER135LEU	0010	GALACTOSEMIA	2
GALT	606999	230400	9p13	THR292THR		GALACTOSEMIA (POLYMORPHISM)	1
GALT	606999	230400	9p13	VAL44MET	0003	GALACTOSEMIA	1

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