Mutation Direct

Effortless mutation search and display tool

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Gene: SPR & Disease: DRDSPRD, 63 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
235551	SPR	c.655C>T	p.Arg219Ter (p.R219X)	NM_003124.5 M	SNV	P	1 +	9
12941	SPR	c.448A>G	p.Arg150Gly (p.R150G)	NM_003124.5 M	SNV	P	2 +	8
12944	SPR	c.751A>T	p.Lys251Ter (p.K251X)	NM_003124.5 M	SNV	P	2 +	7
2436316	SPR	c.616C>T	p.Gln206Ter (p.Q206X)	NM_003124.5 M	SNV	P	1 +	7
39869	SPR	c.596-2A>G	--	NM_003124.5 M	SNV	P	1 +	3
807499	SPR	c.524C>A	p.Ala175Asp (p.A175D)	NM_003124.5 M	SNV	LP	2 +	3
12940	SPR	c.448_452del	p.Thr151fs (p.T151fs)	NM_003124.5 M	Del	P	1 +	3
12943	SPR	c.488C>T	p.Pro163Leu (p.P163L)	NM_003124.5 M	SNV	P	1 +	2
12939	SPR	c.355C>T	p.Gln119Ter (p.Q119X)	NM_003124.5 M	SNV	P	1 +	2
1162323	SPR	c.512G>A	p.Cys171Tyr (p.C171Y)	NM_003124.5 M	SNV	LP	1 +	1
664157	SPR	c.381C>G	p.Asn127Lys (p.N127K)	NM_003124.5 M	SNV	LP	2 +	1
31917	SPR	c.304G>T	p.Gly102Cys (p.G102C)	NM_003124.5 M	SNV	P	1 +	1
566802	SPR	c.207C>G	p.Asp69Glu (p.D69E)	NM_003124.5 M	SNV	VUS	2 +	1
12942	SPR	c.-13G>A	--	NM_003124.5 M	SNV	P	1 +	1
336993	SPR	c.*108G>A	--	NM_003124.5 M	SNV	VUS	1 +	0
897747	SPR	c.*607A>C	--	NM_003124.5 M	SNV	VUS	1 +	0
336998	SPR	c.*597C>A	--	NM_003124.5 M	SNV	VUS	1 +	0
336997	SPR	c.*410C>G	--	NM_003124.5 M	SNV	VUS	1 +	0
896148	SPR	c.*432G>A	--	NM_003124.5 M	SNV	B	1 +	0
336995	SPR	c.*321G>C	--	NM_003124.5 M	SNV	VUS	1 +	0

63 Results, 20 per Page