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Gene: SAG & Disease: RP, 50 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
813237	SAG	c.1103-2A>C	--	NM_000541.5 M	SNV	P	2 +	4
143084	SAG	c.250C>T	p.Arg84Cys (p.R84C)	NM_000541.5 M	SNV	B	3 +	4
194605	SAG	c.1132G>A	p.Val378Ile (p.V378I)	NM_000541.5 M	SNV	VUS	5 +	2
811941	SAG	c.944+5G>A	--	NM_000541.5 M	SNV	VUS	4 +	2
444553	SAG	c.806+4A>G	--	NM_000541.5 M	SNV	P	2 +	2
335068	SAG	c.321G>C	p.Leu107= (p.L107=)	NM_000541.5 M	SNV	B	3 +	1
791897	SAG	c.1091C>T	p.Pro364Leu (p.P364L)	NM_000541.5 M	SNV	LB	3 +	1
855885	SAG	c.473C>A	p.Thr158Lys (p.T158K)	NM_000541.5 M	SNV	VUS	3 +	1
720101	SAG	c.374C>T	p.Thr125Met (p.T125M)	NM_000541.5 M	SNV	B	2 +	1
335077	SAG	c.*90G>A	--	NM_000541.5 M	SNV	LB	3 +	0
335078	SAG	c.*98G>A	--	NM_000541.5 M	SNV	VUS	3 +	0
335076	SAG	c.*89C>T	--	NM_000541.5 M	SNV	LB	3 +	0
895438	SAG	c.*113C>T	--	NM_000541.5 M	SNV	VUS	3 +	0
335074	SAG	c.1208T>C	p.Val403Ala (p.V403A)	NM_000541.5 M	SNV	B	3 +	0
194606	SAG	c.1207G>A	p.Val403Ile (p.V403I)	NM_000541.5 M	SNV	B	4 +	0
898428	SAG	c.*20C>T	--	NM_000541.5 M	SNV	VUS	3 +	0
335075	SAG	c.*7C>T	--	NM_000541.5 M	SNV	B	3 +	0
335073	SAG	c.1167T>A	p.Asp389Glu (p.D389E)	NM_000541.5 M	SNV	LB	3 +	0
896773	SAG	c.1054G>A	p.Ala352Thr (p.A352T)	NM_000541.5 M	SNV	VUS	3 +	0
335072	SAG	c.1047-13T>C	--	NM_000541.5 M	SNV	B	3 +	0

共50个结果, 每页展示20条

Comparison