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Mutation Direct

Effortless mutation search and display tool

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Gene: CREBBP & Disease: ASD, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
598959	CREBBP	c.5603G>A	p.Arg1868Gln (p.R1868Q)	NM_004380.3 M	SNV	P	5 +	2
598959	CREBBP	c.5489G>A	p.Arg1830Gln (p.R1830Q)	NM_001079846.1	SNV	P	5 +	2

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