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Gene: FRRS1L & Disease: Choreatic Disease, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
218151	FRRS1L	c.808C>T	p.Gln270Ter (p.Q270X)	NM_014334.4 M	SNV	P	2 +	4
218153	FRRS1L	c.584_586del	p.Gly195Del (p.G195del)	NM_014334.4 M	Del	P	2 +	3
218152	FRRS1L	c.692G>A	p.Trp231Ter (p.W231X)	NM_014334.4 M	SNV	P	2 +	1
218154	FRRS1L	c.283dup	p.Ile95fs (p.I95fs)	NM_014334.4 M	Dup	P	2 +	1

共4个结果, 每页展示20条

1

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