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Mutation Direct

Effortless mutation search and display tool

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Gene: USH2A & Disease: Retinal Degeneration, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
48615	USH2A	c.920_923dup	p.His308fs (p.H308fs)	NM_206933.4 M	Dup	P	8 +	22
48615	USH2A	c.920_923dup	p.His308fs (p.H308fs)	NM_007123.6	Dup	P	8 +	22
429215	USH2A	c.14219C>A	p.Ala4740Asp (p.A4740D)	NM_206933.4 M	SNV	P	6 +	5

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