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Gene: FGFR3 & Disease: SCS, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
16340	FGFR3	c.749C>G	p.Pro250Arg (p.P250R)	NM_000142.5 M	SNV	P	26 +	29
	FGFR3	c.749C>G	p.Pro250Arg (p.P250R)	NM_001163213.2	SNV	P	26 +	29
	FGFR3	c.749C>G	p.Pro250Arg (p.P250R)	NM_001354809.2	SNV	P	26 +	29
	FGFR3	c.749C>G	p.Pro250Arg (p.P250R)	NM_001354810.2	SNV	P	26 +	29
	FGFR3	c.749C>G	p.Pro250Arg (p.P250R)	NM_022965.4	SNV	P	26 +	29

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