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Gene: AQP4 & Disease: MLC4, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2573132	AQP4	c.643G>A	p.Ala215Thr (p.A215T)	NM_001650.7 M	SNV	P	1 +	1
	AQP4	c.643G>A	p.Ala215Thr (p.A215T)	NM_001317384.3	SNV	P	1 +	1
	AQP4	c.577G>A	p.Ala193Thr (p.A193T)	NM_001364286.1	SNV	P	1 +	1
	AQP4	c.577G>A	p.Ala193Thr (p.A193T)	NM_001364287.1	SNV	P	1 +	1
	AQP4	c.577G>A	p.Ala193Thr (p.A193T)	NM_001364289.2	SNV	P	1 +	1
	AQP4	c.577G>A	p.Ala193Thr (p.A193T)	NM_004028.5	SNV	P	1 +	1
	AQP4	c.612+309G>A	--	NM_001317387.3	SNV	P	1 +	1

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