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Gene: RAPSN & Disease: FADS1, 948 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
8046	RAPSN	c.264C>A	p.Asn88Lys (p.N88K)	NM_005055.5 M	SNV	P	5 +	34
8046	RAPSN	c.264C>A	p.Asn88Lys (p.N88K)	NM_032645.5	SNV	P	5 +	34
856323	RAPSN	c.493G>A	p.Val165Met (p.V165M)	NM_005055.5 M	SNV	P	3 +	9
856323	RAPSN	c.493G>A	p.Val165Met (p.V165M)	NM_032645.5	SNV	P	3 +	9
8051	RAPSN	c.-210A>G	--	NM_005055.5 M	SNV	P	4 +	7
1705170	RAPSN	c.280G>A	p.Glu94Lys (p.E94K)	NM_005055.5 M	SNV	LP	2 +	6
1705170	RAPSN	c.280G>A	p.Glu94Lys (p.E94K)	NM_032645.5	SNV	LP	2 +	6
2163124	RAPSN	c.1166+2T>G	--	NM_005055.5 M	SNV	P	2 +	5
381703	RAPSN	c.271C>T	p.Arg91Cys (p.R91C)	NM_005055.5 M	SNV	LP	3 +	5
497298	RAPSN	c.272G>T	p.Arg91Leu (p.R91L)	NM_005055.5 M	SNV	P	3 +	5
2152107	RAPSN	c.1166+1G>C	--	NM_005055.5 M	SNV	P	2 +	5
2163124	RAPSN	c.989+2T>G	--	NM_032645.5	SNV	P	2 +	5
381703	RAPSN	c.271C>T	p.Arg91Cys (p.R91C)	NM_032645.5	SNV	LP	3 +	5
497298	RAPSN	c.272G>T	p.Arg91Leu (p.R91L)	NM_032645.5	SNV	P	3 +	5
2152107	RAPSN	c.989+1G>C	--	NM_032645.5	SNV	P	2 +	5
1417647	RAPSN	c.490C>G	p.Arg164Gly (p.R164G)	NM_005055.5 M	SNV	P	2 +	4
264677	RAPSN	c.-199C>G	--	NM_005055.5 M	SNV	P	3 +	4
197248	RAPSN	c.737C>T	p.Ala246Val (p.A246V)	NM_005055.5 M	SNV	P	2 +	4
2420574	RAPSN	c.1166+1G>T	--	NM_005055.5 M	SNV	P	2 +	4
8054	RAPSN	c.490C>T	p.Arg164Cys (p.R164C)	NM_005055.5 M	SNV	P	3 +	4

948 Results, 20 per Page

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