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Gene: RYR1 & Disease: Congenital Multicore Myopathy with External Ophthalmoplegia, 1855 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
12964	RYR1	c.1840C>T	p.Arg614Cys (p.R614C)	NM_000540.3 M	SNV	P	9 +	76
12964	RYR1	c.1840C>T	p.Arg614Cys (p.R614C)	NM_001042723.2	SNV	P	9 +	76
12976	RYR1	c.6502G>A	p.Val2168Met (p.V2168M)	NM_000540.3 M	SNV	P	6 +	29
12976	RYR1	c.6502G>A	p.Val2168Met (p.V2168M)	NM_001042723.2	SNV	P	6 +	29
93252	RYR1	c.13513G>C	p.Asp4505His (p.D4505H)	NM_000540.3 M	SNV	LB	10 +	25
93252	RYR1	c.13498G>C	p.Asp4500His (p.D4500H)	NM_001042723.2	SNV	LB	10 +	25
12984	RYR1	c.14545G>A	p.Val4849Ile (p.V4849I)	NM_000540.3 M	SNV	P	4 +	24
12984	RYR1	c.14530G>A	p.Val4844Ile (p.V4844I)	NM_001042723.2	SNV	P	4 +	24
133021	RYR1	c.11798A>G	p.Tyr3933Cys (p.Y3933C)	NM_000540.3 M	SNV	LB	8 +	20
133075	RYR1	c.14524G>A	p.Val4842Met (p.V4842M)	NM_000540.3 M	SNV	P	11 +	20
93269	RYR1	c.4178A>G	p.Lys1393Arg (p.K1393R)	NM_000540.3 M	SNV	LB	6 +	20
159856	RYR1	c.6721C>T	p.Arg2241Ter (p.R2241X)	NM_000540.3 M	SNV	P	11 +	20
133021	RYR1	c.11783A>G	p.Tyr3928Cys (p.Y3928C)	NM_001042723.2	SNV	LB	8 +	20
133075	RYR1	c.14509G>A	p.Val4837Met (p.V4837M)	NM_001042723.2	SNV	P	11 +	20
93269	RYR1	c.4178A>G	p.Lys1393Arg (p.K1393R)	NM_001042723.2	SNV	LB	6 +	20
159856	RYR1	c.6721C>T	p.Arg2241Ter (p.R2241X)	NM_001042723.2	SNV	P	11 +	20
133108	RYR1	c.1841G>T	p.Arg614Leu (p.R614L)	NM_000540.3 M	SNV	P	9 +	18
12971	RYR1	c.7372C>T	p.Arg2458Cys (p.R2458C)	NM_000540.3 M	SNV	P	9 +	18
133108	RYR1	c.1841G>T	p.Arg614Leu (p.R614L)	NM_001042723.2	SNV	P	9 +	18
12971	RYR1	c.7372C>T	p.Arg2458Cys (p.R2458C)	NM_001042723.2	SNV	P	9 +	18

1855 Results, 20 per Page

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