Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: CRYM & Disease: DFNA40, 26 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
44237	CRYM	c.325-12T>C	--	NM_001376256.1 M	SNV	B	1 +	3
163002	CRYM	c.741C>T	p.Tyr247= (p.Y247=)	NM_001376256.1 M	SNV	B	1 +	3
179999	CRYM	c.761C>T	p.Ala254Val (p.A254V)	NM_001376256.1 M	SNV	LB	1 +	3
44241	CRYM	c.864C>G	p.Thr288= (p.T288=)	NM_001376256.1 M	SNV	B	1 +	3
163000	CRYM	c.907G>A	p.Ala303Thr (p.A303T)	NM_001376256.1 M	SNV	VUS	1 +	3
44237	CRYM	c.325-12T>C	--	NM_001888.5	SNV	B	1 +	3
163002	CRYM	c.741C>T	p.Tyr247= (p.Y247=)	NM_001888.5	SNV	B	1 +	3
179999	CRYM	c.761C>T	p.Ala254Val (p.A254V)	NM_001888.5	SNV	LB	1 +	3
44241	CRYM	c.864C>G	p.Thr288= (p.T288=)	NM_001888.5	SNV	B	1 +	3
163000	CRYM	c.907G>A	p.Ala303Thr (p.A303T)	NM_001888.5	SNV	VUS	1 +	3
1398168	CRYM	c.10G>T	p.Val4Leu (p.V4L)	NM_001376256.1 M	SNV	VUS	1 +	2
2144479	CRYM	c.421A>G	p.Ile141Val (p.I141V)	NM_001376256.1 M	SNV	VUS	1 +	2
785526	CRYM	c.524A>T	p.Glu175Val (p.E175V)	NM_001376256.1 M	SNV	LB	1 +	2
1398168	CRYM	c.10G>T	p.Val4Leu (p.V4L)	NM_001888.5	SNV	VUS	1 +	2
2144479	CRYM	c.421A>G	p.Ile141Val (p.I141V)	NM_001888.5	SNV	VUS	1 +	2
785526	CRYM	c.524A>T	p.Glu175Val (p.E175V)	NM_001888.5	SNV	LB	1 +	2
1804934	CRYM	c.29C>G	p.Ala10Gly (p.A10G)	NM_001376256.1 M	SNV	VUS	1 +	1
2581040	CRYM	c.251G>A	p.Gly84Asp (p.G84D)	NM_001376256.1 M	SNV	VUS	1 +	1
16934	CRYM	c.945A>T	p.Ter315Tyr (p.X315Y)	NM_001376256.1 M	SNV	P	1 +	1
16935	CRYM	c.941A>C	p.Lys314Thr (p.K314T)	NM_001376256.1 M	SNV	P	1 +	1

26 Results, 20 per Page

Comparison