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Gene: CRYGC & Disease: CTRCT2, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
16945	CRYGC	c.502C>T	p.Arg168Trp (p.R168W)	NM_020989.4 M	SNV	LB	1 +	4
16944	CRYGC	c.119_123dup	p.Cys42fs (p.C42fs)	NM_020989.4 M	Dup	P	1 +	2
66074	CRYGC	c.470G>A	p.Trp157Ter (p.W157X)	NM_020989.4 M	SNV	P	1 +	1
66076	CRYGC	c.385G>T	p.Gly129Cys (p.G129C)	NM_020989.4 M	SNV	P	1 +	1
1033968	CRYGC	c.423del	p.Arg142fs (p.R142fs)	NM_020989.4 M	Del	P	1 +	1
66075	CRYGC	c.471G>A	p.Trp157Ter (p.W157X)	NM_020989.4 M	SNV	P	1 +	1
68475	CRYGC	c.497C>T	p.Ser166Phe (p.S166F)	NM_020989.4 M	SNV	P	1 +	1
2440575	CRYGC	c.149A>G	p.Asn50Ser (p.N50S)	NM_020989.4 M	SNV	VUS	1 +	0
1341367	CRYGC	c.394del	p.Val132fs (p.V132fs)	NM_020989.4 M	Del	P	1 +	0
1709652	CRYGC	c.403G>A	p.Glu135Lys (p.E135K)	NM_020989.4 M	SNV	VUS	1 +	0

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