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Mutation Direct

Effortless mutation search and display tool

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Gene: DCT & Disease: OCA8, 42 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1268230	DCT	c.176G>T	p.Gly59Val (p.G59V)	NM_001922.5 M	SNV	P	1 +	1
1268231	DCT	c.876C>A	p.Tyr292Ter (p.Y292X)	NM_001922.5 M	SNV	P	1 +	1
1268232	DCT	c.1407G>A	p.Trp469Ter (p.W469X)	NM_001922.5 M	SNV	P	1 +	1
930182	DCT	c.1307_1320del	p.Phe435_Phe436insTer	NM_001922.5 M	Del	P	2 +	1
929863	DCT	c.118T>A	p.Cys40Ser (p.C40S)	NM_001922.5 M	SNV	P	2 +	1
929864	DCT	c.183C>G	p.Cys61Trp (p.C61W)	NM_001922.5 M	SNV	P	2 +	1
1268230	DCT	c.176G>T	p.Gly59Val (p.G59V)	NM_001129889.3	SNV	P	1 +	1
	DCT	c.-338-12422G>T	--	NM_001322182.2	SNV	P	1 +	1
	DCT	c.-638-10035G>T	--	NM_001322185.2	SNV	P	1 +	1
	DCT	c.-339+10297G>T	--	NM_001322183.2	SNV	P	1 +	1
	DCT	c.-638-10035G>T	--	NM_001322184.2	SNV	P	1 +	1
	DCT	c.107-10035G>T	--	NM_001322186.2	SNV	P	1 +	1
1268231	DCT	c.876C>A	p.Tyr292Ter (p.Y292X)	NM_001129889.3	SNV	P	1 +	1
	DCT	c.-58C>A	--	NM_001322182.2	SNV	P	1 +	1
	DCT	c.-58C>A	--	NM_001322183.2	SNV	P	1 +	1
	DCT	c.-58C>A	--	NM_001322184.2	SNV	P	1 +	1
	DCT	c.-58C>A	--	NM_001322185.2	SNV	P	1 +	1
	DCT	c.687C>A	p.Tyr229Ter (p.Y229X)	NM_001322186.2	SNV	P	1 +	1
1268232	DCT	c.1506G>A	p.Trp502Ter (p.W502X)	NM_001129889.3	SNV	P	1 +	1
1268232	DCT	c.474G>A	p.Trp158Ter (p.W158X)	NM_001322182.2	SNV	P	1 +	1

42 Results, 20 per Page

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