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Gene: RCBTB1 & Disease: Coats Disease, 15 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
224622	RCBTB1	c.707del	p.Asn236fs (p.N236fs)	NM_018191.4 M	Del	P	2 +	2
	RCBTB1	c.707del	p.Asn236fs (p.N236fs)	NM_001352500.2	Del	P	2 +	2
	RCBTB1	c.707del	p.Asn236fs (p.N236fs)	NM_001352501.2	Del	P	2 +	2
	RCBTB1	c.707del	p.Asn236fs (p.N236fs)	NM_001352502.2	Del	P	2 +	2
	RCBTB1	c.707del	p.Asn236fs (p.N236fs)	NM_001352503.2	Del	P	2 +	2
	RCBTB1	c.707del	p.Asn236fs (p.N236fs)	NM_001352504.2	Del	P	2 +	2
	RCBTB1	c.707del	p.Asn236fs (p.N236fs)	NM_001352505.2	Del	P	2 +	2
	RCBTB1	c.128del	p.Asn43fs (p.N43fs)	NM_001352506.2	Del	P	2 +	2
224621	RCBTB1	c.1172+1G>A	--	NM_018191.4 M	SNV	LP	2 +	0
	RCBTB1	c.1172+1G>A	--	NM_001352501.2	SNV	LP	2 +	0
	RCBTB1	c.1172+1G>A	--	NM_001352502.2	SNV	LP	2 +	0
	RCBTB1	c.1172+1G>A	--	NM_001352503.2	SNV	LP	2 +	0
	RCBTB1	c.593+1G>A	--	NM_001352506.2	SNV	LP	2 +	0
	RCBTB1	c.1172+1G>A	--	NM_001352500.2	SNV	LP	2 +	0
	RCBTB1	c.1172+1G>A	--	NM_001352504.2	SNV	LP	2 +	0

15 Results, 20 per Page

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