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Gene: DCDC2 & Disease: DFNB66, 255 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
466326	DCDC2	c.454C>G	p.Pro152Ala (p.P152A)	NM_016356.5 M	SNV	B	3 +	5
466326	DCDC2	c.454C>G	p.Pro152Ala (p.P152A)	NM_001195610.2	SNV	B	3 +	5
1492885	DCDC2	c.426-2A>G	--	NM_016356.5 M	SNV	LP	3 +	3
180688	DCDC2	c.123_124del	p.Ser42fs (p.S42fs)	NM_016356.5 M	MS	P	5 +	3
1492885	DCDC2	c.426-2A>G	--	NM_001195610.2	SNV	LP	3 +	3
180688	DCDC2	c.123_124del	p.Ser42fs (p.S42fs)	NM_001195610.2	MS	P	5 +	3
595088	DCDC2	c.970dup	p.Ala324fs (p.A324fs)	NM_016356.5 M	Dup	P	4 +	2
161160	DCDC2	c.1271A>C	p.Gln424Pro (p.Q424P)	NM_016356.5 M	SNV	P	2 +	2
417768	DCDC2	c.890T>A	p.Leu297Ter (p.L297X)	NM_016356.5 M	SNV	P	4 +	2
417769	DCDC2	c.529dup	p.Ile177fs (p.I177fs)	NM_016356.5 M	Dup	P	3 +	2
595088	DCDC2	c.970dup	p.Ala324fs (p.A324fs)	NM_001195610.2	Dup	P	4 +	2
161160	DCDC2	c.1271A>C	p.Gln424Pro (p.Q424P)	NM_001195610.2	SNV	P	2 +	2
417768	DCDC2	c.890T>A	p.Leu297Ter (p.L297X)	NM_001195610.2	SNV	P	4 +	2
417769	DCDC2	c.529dup	p.Ile177fs (p.I177fs)	NM_001195610.2	Dup	P	3 +	2
501347	DCDC2	c.383C>G	p.Ser128Ter (p.S128X)	NM_016356.5 M	SNV	P	4 +	1
501471	DCDC2	c.942del	p.Gly315fs (p.G315fs)	NM_016356.5 M	Del	P	4 +	1
180689	DCDC2	c.349-2A>G	--	NM_016356.5 M	SNV	P	4 +	1
501347	DCDC2	c.383C>G	p.Ser128Ter (p.S128X)	NM_001195610.2	SNV	P	4 +	1
501471	DCDC2	c.942del	p.Gly315fs (p.G315fs)	NM_001195610.2	Del	P	4 +	1
180689	DCDC2	c.349-2A>G	--	NM_001195610.2	SNV	P	4 +	1

255 Results, 20 per Page

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