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Mutation Direct

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Gene: CACNA1H & Disease: EIG, 5134 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
995335	CACNA1H	c.1495G>A	p.Gly499Ser (p.G499S)	NM_021098.3 M	SNV	LB	3 +	5
995335	CACNA1H	c.1495G>A	p.Gly499Ser (p.G499S)	NM_001005407.2	SNV	LB	3 +	5
2706	CACNA1H	c.2626G>A	p.Ala876Thr (p.A876T)	NM_021098.3 M	SNV	B	3 +	4
2703	CACNA1H	c.2491G>A	p.Val831Met (p.V831M)	NM_021098.3 M	SNV	VUS	3 +	4
2706	CACNA1H	c.2626G>A	p.Ala876Thr (p.A876T)	NM_001005407.2	SNV	B	3 +	4
2703	CACNA1H	c.2491G>A	p.Val831Met (p.V831M)	NM_001005407.2	SNV	VUS	3 +	4
460175	CACNA1H	c.6717C>T	p.Gly2239= (p.G2239=)	NM_021098.3 M	SNV	LB	2 +	3
460163	CACNA1H	c.6322G>A	p.Ala2108Thr (p.A2108T)	NM_021098.3 M	SNV	LB	3 +	3
460162	CACNA1H	c.6273C>T	p.Ala2091= (p.A2091=)	NM_021098.3 M	SNV	LB	3 +	3
460160	CACNA1H	c.6195C>T	p.Ala2065= (p.A2065=)	NM_021098.3 M	SNV	LB	3 +	3
994572	CACNA1H	c.5988C>T	p.His1996= (p.H1996=)	NM_021098.3 M	SNV	LB	3 +	3
166781	CACNA1H	c.5897C>T	p.Ala1966Val (p.A1966V)	NM_021098.3 M	SNV	LB	3 +	3
460145	CACNA1H	c.5493C>T	p.Tyr1831= (p.Y1831=)	NM_021098.3 M	SNV	LB	3 +	3
585648	CACNA1H	c.5162G>A	p.Arg1721His (p.R1721H)	NM_021098.3 M	SNV	VUS	3 +	3
377230	CACNA1H	c.5113G>A	p.Ala1705Thr (p.A1705T)	NM_021098.3 M	SNV	LB	2 +	3
529593	CACNA1H	c.5081T>C	p.Met1694Thr (p.M1694T)	NM_021098.3 M	SNV	VUS	3 +	3
529622	CACNA1H	c.4983C>A	p.Val1661= (p.V1661=)	NM_021098.3 M	SNV	LB	3 +	3
460134	CACNA1H	c.4929+8C>T	--	NM_021098.3 M	SNV	LB	3 +	3
460128	CACNA1H	c.4836G>A	p.Ser1612= (p.S1612=)	NM_021098.3 M	SNV	LB	3 +	3
707258	CACNA1H	c.4759+8G>A	--	NM_021098.3 M	SNV	LB	3 +	3

5134 Results, 20 per Page

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