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Gene: CACNA1A & Disease: EA2, 10723 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
8488	CACNA1A	c.1994C>T	p.Thr665Met (p.T665M)	NM_001127222.2 M	SNV	P	5 +	27
	CACNA1A	c.1997C>T	p.Thr666Met (p.T666M)	NM_000068.4	SNV	P	5 +	27
	CACNA1A	c.1997C>T	p.Thr666Met (p.T666M)	NM_001127221.2	SNV	P	5 +	27
	CACNA1A	c.1997C>T	p.Thr666Met (p.T666M)	NM_001174080.2	SNV	P	5 +	27
	CACNA1A	c.1997C>T	p.Thr666Met (p.T666M)	NM_023035.3	SNV	P	5 +	27
8505	CACNA1A	c.1745G>A	p.Arg582Gln (p.R582Q)	NM_001127222.2 M	SNV	P	7 +	22
	CACNA1A	c.1748G>A	p.Arg583Gln (p.R583Q)	NM_000068.4	SNV	P	7 +	22
	CACNA1A	c.1748G>A	p.Arg583Gln (p.R583Q)	NM_001127221.2	SNV	P	7 +	22
	CACNA1A	c.1748G>A	p.Arg583Gln (p.R583Q)	NM_001174080.2	SNV	P	7 +	22
	CACNA1A	c.1748G>A	p.Arg583Gln (p.R583Q)	NM_023035.3	SNV	P	7 +	22
8507	CACNA1A	c.4633C>T	p.Arg1545Ter (p.R1545X)	NM_001127222.2 M	SNV	P	4 +	17
	CACNA1A	c.4645C>T	p.Arg1549Ter (p.R1549X)	NM_000068.4	SNV	P	4 +	17
	CACNA1A	c.4636C>T	p.Arg1546Ter (p.R1546X)	NM_001127221.2	SNV	P	4 +	17
	CACNA1A	c.4636C>T	p.Arg1546Ter (p.R1546X)	NM_001174080.2	SNV	P	4 +	17
	CACNA1A	c.4645C>T	p.Arg1549Ter (p.R1549X)	NM_023035.3	SNV	P	4 +	17
426943	CACNA1A	c.6203G>A	p.Arg2068Gln (p.R2068Q)	NM_001127222.2 M	SNV	LB	2 +	15
	CACNA1A	c.6221G>A	p.Arg2074Gln (p.R2074Q)	NM_000068.4	SNV	LB	2 +	15
	CACNA1A	c.6206G>A	p.Arg2069Gln (p.R2069Q)	NM_001127221.2	SNV	LB	2 +	15
	CACNA1A	c.6212G>A	p.Arg2071Gln (p.R2071Q)	NM_001174080.2	SNV	LB	2 +	15
	CACNA1A	c.6221G>A	p.Arg2074Gln (p.R2074Q)	NM_023035.3	SNV	LB	2 +	15

10723 Results, 20 per Page

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