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Gene: FGFR3 & Disease: LRS, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
16338	FGFR3	c.1620C>G	p.Asn540Lys (p.N540K)	NM_000142.5 M	SNV	P	18 +	21
	FGFR3	c.1626C>G	p.Asn542Lys (p.N542K)	NM_001163213.2	SNV	P	18 +	21
	FGFR3	c.1623C>G	p.Asn541Lys (p.N541K)	NM_001354809.2	SNV	P	18 +	21
	FGFR3	c.1623C>G	p.Asn541Lys (p.N541K)	NM_001354810.2	SNV	P	18 +	21
	FGFR3	c.1284C>G	p.Asn428Lys (p.N428K)	NM_022965.4	SNV	P	18 +	21

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