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Gene: FKRP & Disease: MDDGB5, 188 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
4221	FKRP	c.826C>A	p.Leu276Ile (p.L276I)	NM_024301.5 M	SNV	P	12 +	42
4221	FKRP	c.826C>A	p.Leu276Ile (p.L276I)	NM_001039885.3	SNV	P	12 +	42
4220	FKRP	c.1343C>T	p.Pro448Leu (p.P448L)	NM_024301.5 M	SNV	P	6 +	12
4220	FKRP	c.1343C>T	p.Pro448Leu (p.P448L)	NM_001039885.3	SNV	P	6 +	12
96108	FKRP	c.341C>G	p.Ala114Gly (p.A114G)	NM_024301.5 M	SNV	LB	6 +	11
96108	FKRP	c.341C>G	p.Ala114Gly (p.A114G)	NM_001039885.3	SNV	LB	6 +	11
664273	FKRP	c.948del	p.Cys317fs (p.C317fs)	NM_024301.5 M	Del	P	6 +	10
167072	FKRP	c.1073C>T	p.Pro358Leu (p.P358L)	NM_024301.5 M	SNV	P	7 +	10
664273	FKRP	c.948del	p.Cys317fs (p.C317fs)	NM_001039885.3	Del	P	6 +	10
167072	FKRP	c.1073C>T	p.Pro358Leu (p.P358L)	NM_001039885.3	SNV	P	7 +	10
4226	FKRP	c.1364C>A	p.Ala455Asp (p.A455D)	NM_024301.5 M	SNV	P	4 +	9
241460	FKRP	c.898G>A	p.Val300Met (p.V300M)	NM_024301.5 M	SNV	P	7 +	9
4226	FKRP	c.1364C>A	p.Ala455Asp (p.A455D)	NM_001039885.3	SNV	P	4 +	9
241460	FKRP	c.898G>A	p.Val300Met (p.V300M)	NM_001039885.3	SNV	P	7 +	9
129057	FKRP	c.427C>A	p.Arg143Ser (p.R143S)	NM_024301.5 M	SNV	LB	8 +	8
4224	FKRP	c.946C>A	p.Pro316Thr (p.P316T)	NM_024301.5 M	SNV	P	2 +	8
4232	FKRP	c.899T>C	p.Val300Ala (p.V300A)	NM_024301.5 M	SNV	P	7 +	8
129057	FKRP	c.427C>A	p.Arg143Ser (p.R143S)	NM_001039885.3	SNV	LB	8 +	8
4224	FKRP	c.946C>A	p.Pro316Thr (p.P316T)	NM_001039885.3	SNV	P	2 +	8
4232	FKRP	c.899T>C	p.Val300Ala (p.V300A)	NM_001039885.3	SNV	P	7 +	8

188 Results, 20 per Page

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