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Gene: PRPF31 & Disease: RP, 110 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1297104	PRPF31	c.1165C>T	p.Gln389Ter (p.Q389X)	NM_015629.4 M	SNV	P	2 +	5
636067	PRPF31	c.421-2A>G	--	NM_015629.4 M	SNV	P	2 +	5
865976	PRPF31	c.895T>C	p.Cys299Arg (p.C299R)	NM_015629.4 M	SNV	P	4 +	5
236425	PRPF31	c.1060C>T	p.Arg354Ter (p.R354X)	NM_015629.4 M	SNV	P	3 +	4
804347	PRPF31	c.239-2A>G	--	NM_015629.4 M	SNV	P	2 +	4
636190	PRPF31	c.1222C>T	p.Arg408Trp (p.R408W)	NM_015629.4 M	SNV	VUS	2 +	3
804153	PRPF31	c.165G>A	p.Trp55Ter (p.W55X)	NM_015629.4 M	SNV	P	2 +	3
812380	PRPF31	c.1108G>T	p.Glu370Ter (p.E370X)	NM_015629.4 M	SNV	P	2 +	3
143149	PRPF31	c.615C>G	p.Tyr205Ter (p.Y205X)	NM_015629.4 M	SNV	P	2 +	3
813209	PRPF31	c.371_375del	p.Glu124fs (p.E124fs)	NM_015629.4 M	Del	P	2 +	2
330097	PRPF31	c.420+7G>A	--	NM_015629.4 M	SNV	LB	3 +	2
330107	PRPF31	c.1230A>G	p.Thr410= (p.T410=)	NM_015629.4 M	SNV	B	3 +	2
973369	PRPF31	c.821T>C	p.Ile274Thr (p.I274T)	NM_015629.4 M	SNV	LP	2 +	2
546035	PRPF31	c.992G>A	p.Trp331Ter (p.W331X)	NM_015629.4 M	SNV	P	3 +	2
813069	PRPF31	c.953_959del	p.Gly317_Tyr318insTer	NM_015629.4 M	Del	P	2 +	1
813070	PRPF31	c.954_955dup	p.Glu319fs (p.E319fs)	NM_015629.4 M	Dup	P	2 +	1
813071	PRPF31	c.96_102del	p.Ile32fs (p.I32fs)	NM_015629.4 M	Del	P	2 +	1
813072	PRPF31	c.178-2A>G	--	NM_015629.4 M	SNV	P	2 +	1
813073	PRPF31	c.1067_1073+8del	--	NM_015629.4 M	Del	P	2 +	1
813074	PRPF31	c.1074-2A>G	--	NM_015629.4 M	SNV	P	2 +	1

110 Results, 20 per Page

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