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Gene: FGFR3 & Disease: Primary Bone Dysplasia, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
16332	FGFR3	c.742C>T	p.Arg248Cys (p.R248C)	NM_000142.5 M	SNV	P	28 +	26
	FGFR3	c.742C>T	p.Arg248Cys (p.R248C)	NM_001163213.2	SNV	P	28 +	26
	FGFR3	c.742C>T	p.Arg248Cys (p.R248C)	NM_001354809.2	SNV	P	28 +	26
	FGFR3	c.742C>T	p.Arg248Cys (p.R248C)	NM_001354810.2	SNV	P	28 +	26
	FGFR3	c.742C>T	p.Arg248Cys (p.R248C)	NM_022965.4	SNV	P	28 +	26
287276	FGFR3	c.598C>T	p.Arg200Cys (p.R200C)	NM_000142.5 M	SNV	P	3 +	3
	FGFR3	c.598C>T	p.Arg200Cys (p.R200C)	NM_001163213.2	SNV	P	3 +	3
	FGFR3	c.598C>T	p.Arg200Cys (p.R200C)	NM_001354809.2	SNV	P	3 +	3
	FGFR3	c.598C>T	p.Arg200Cys (p.R200C)	NM_001354810.2	SNV	P	3 +	3
	FGFR3	c.598C>T	p.Arg200Cys (p.R200C)	NM_022965.4	SNV	P	3 +	3

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