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Gene: PRPS1 & Disease: DFNX1, 74 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
164996	PRPS1	c.456A>G	p.Leu152= (p.L152=)	NM_002764.4 M	SNV	LB	3 +	3
9940	PRPS1	c.916G>A	p.Gly306Arg (p.G306R)	NM_002764.4 M	SNV	P	1 +	3
9941	PRPS1	c.869T>C	p.Ile290Thr (p.I290T)	NM_002764.4 M	SNV	P	1 +	3
9939	PRPS1	c.259G>A	p.Ala87Thr (p.A87T)	NM_002764.4 M	SNV	P	1 +	3
94083	PRPS1	c.477C>T	p.Ile159= (p.I159=)	NM_002764.4 M	SNV	LB	5 +	3
164996	PRPS1	c.-82-2761A>G	--	NM_001204402.2	SNV	LB	3 +	3
9940	PRPS1	c.304G>A	p.Gly102Arg (p.G102R)	NM_001204402.2	SNV	P	1 +	3
9941	PRPS1	c.257T>C	p.Ile86Thr (p.I86T)	NM_001204402.2	SNV	P	1 +	3
9939	PRPS1	c.-82-5746G>A	--	NM_001204402.2	SNV	P	1 +	3
94083	PRPS1	c.-82-2740C>T	--	NM_001204402.2	SNV	LB	5 +	3
508528	PRPS1	c.573G>A	p.Leu191= (p.L191=)	NM_002764.4 M	SNV	LB	5 +	2
382624	PRPS1	c.288G>A	p.Arg96= (p.R96=)	NM_002764.4 M	SNV	LB	5 +	2
1722584	PRPS1	c.244G>C	p.Ala82Pro (p.A82P)	NM_002764.4 M	SNV	VUS	1 +	2
9938	PRPS1	c.193G>A	p.Asp65Asn (p.D65N)	NM_002764.4 M	SNV	P	1 +	2
422624	PRPS1	c.123-16dup	--	NM_002764.4 M	Dup	LB	5 +	2
21323	PRPS1	c.447G>A	p.Pro149= (p.P149=)	NM_002764.4 M	SNV	LB	5 +	2
223100	PRPS1	c.830A>C	p.Gln277Pro (p.Q277P)	NM_002764.4 M	SNV	P	2 +	2
1228702	PRPS1	c.705-11T>C	--	NM_002764.4 M	SNV	LB	5 +	2
1356780	PRPS1	c.334G>A	p.Val112Ile (p.V112I)	NM_002764.4 M	SNV	VUS	5 +	2
508528	PRPS1	c.-40G>A	--	NM_001204402.2	SNV	LB	5 +	2

共74个结果, 每页展示20条

Comparison