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Gene: DYSF & Disease: Autosomal Recessive Limb-Girdle Muscular Dystrophy, 365 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
286151	DYSF	c.5419C>T	p.Arg1807Trp (p.R1807W)	NM_001130987.2 M	SNV	P	4 +	15
	DYSF	c.5302C>T	p.Arg1768Trp (p.R1768W)	NM_003494.4 MP	SNV	P	4 +	15
	DYSF	c.5305C>T	p.Arg1769Trp (p.R1769W)	NM_001130455.2	SNV	P	4 +	15
	DYSF	c.5323C>T	p.Arg1775Trp (p.R1775W)	NM_001130977.2	SNV	P	4 +	15
	DYSF	c.5365C>T	p.Arg1789Trp (p.R1789W)	NM_001130978.2	SNV	P	4 +	15
	DYSF	c.5395C>T	p.Arg1799Trp (p.R1799W)	NM_001130979.2	SNV	P	4 +	15
	DYSF	c.5353C>T	p.Arg1785Trp (p.R1785W)	NM_001130980.2	SNV	P	4 +	15
	DYSF	c.5416C>T	p.Arg1806Trp (p.R1806W)	NM_001130981.2	SNV	P	4 +	15
	DYSF	c.5398C>T	p.Arg1800Trp (p.R1800W)	NM_001130982.2	SNV	P	4 +	15
	DYSF	c.5368C>T	p.Arg1790Trp (p.R1790W)	NM_001130983.2	SNV	P	4 +	15
	DYSF	c.5326C>T	p.Arg1776Trp (p.R1776W)	NM_001130984.2	SNV	P	4 +	15
	DYSF	c.5356C>T	p.Arg1786Trp (p.R1786W)	NM_001130985.2	SNV	P	4 +	15
	DYSF	c.5263C>T	p.Arg1755Trp (p.R1755W)	NM_001130986.2	SNV	P	4 +	15
	DYSF	c.5260C>T	p.Arg1754Trp (p.R1754W)	NM_001130976.2	SNV	P	4 +	15
6676	DYSF	c.5830C>T	p.Arg1944Ter (p.R1944X)	NM_001130987.2 M	SNV	P	6 +	13
	DYSF	c.5713C>T	p.Arg1905Ter (p.R1905X)	NM_003494.4 MP	SNV	P	6 +	13
	DYSF	c.5716C>T	p.Arg1906Ter (p.R1906X)	NM_001130455.2	SNV	P	6 +	13
	DYSF	c.5671C>T	p.Arg1891Ter (p.R1891X)	NM_001130976.2	SNV	P	6 +	13
	DYSF	c.5734C>T	p.Arg1912Ter (p.R1912X)	NM_001130977.2	SNV	P	6 +	13
	DYSF	c.5776C>T	p.Arg1926Ter (p.R1926X)	NM_001130978.2	SNV	P	6 +	13

365 Results, 20 per Page

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