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Gene: F5 & Disease: RPRGL1, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
642	F5	c.1601G>A	p.Arg534Gln (p.R534Q)	NM_000130.5 M	SNV	P	6 +	54
579171	F5	c.5265A>G	p.Ile1755Met (p.I1755M)	NM_000130.5 M	SNV	LB	7 +	1
716051	F5	c.6554A>G	p.Lys2185Arg (p.K2185R)	NM_000130.5 M	SNV	LB	6 +	0
716052	F5	c.4923C>T	p.Leu1641= (p.L1641=)	NM_000130.5 M	SNV	LB	6 +	0
716054	F5	c.3162A>C	p.Glu1054Asp (p.E1054D)	NM_000130.5 M	SNV	LB	6 +	0
716055	F5	c.2129A>G	p.His710Arg (p.H710R)	NM_000130.5 M	SNV	B	6 +	0
875953	F5	c.3952C>A	p.Gln1318Lys (p.Q1318K)	NM_000130.5 M	SNV	LB	7 +	0

7 Results, 20 per Page

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