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Gene: ANO5 & Disease: HYPCK, 15 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2164	ANO5	c.191dup	p.Asn64fs (p.N64fs)	NM_213599.3 M	Dup	P	9 +	24
	ANO5	c.191dupA	--	NM_213599.3 M	Dup	P	9 +	24
	ANO5	c.188dup	p.Asn63fs (p.N63fs)	NM_001142649.2	Dup	P	9 +	24
286450	ANO5	c.1664G>T	p.Ser555Ile (p.S555I)	NM_213599.3 M	SNV	P	7 +	7
286450	ANO5	c.1661G>T	p.Ser554Ile (p.S554I)	NM_001142649.2	SNV	P	7 +	7
523571	ANO5	c.1965G>C	p.Trp655Cys (p.W655C)	NM_213599.3 M	SNV	P	5 +	3
523571	ANO5	c.1962G>C	p.Trp654Cys (p.W654C)	NM_001142649.2	SNV	P	5 +	3
1192182	ANO5	c.754C>T	p.Leu252Phe (p.L252F)	NM_213599.3 M	SNV	VUS	5 +	1
1192182	ANO5	c.751C>T	p.Leu251Phe (p.L251F)	NM_001142649.2	SNV	VUS	5 +	1
446472	ANO5	c.364-2A>G	--	NM_213599.3 M	SNV	LP	2 +	0
291313	ANO5	c.758A>C	p.His253Pro (p.H253P)	NM_213599.3 M	SNV	LP	2 +	0
446472	ANO5	c.322-2A>G	--	NM_001410963.1	SNV	LP	2 +	0
	ANO5	c.361-2A>G	--	NM_001142649.2	SNV	LP	2 +	0
	ANO5	c.319-2A>G	--	NM_001410964.1	SNV	LP	2 +	0
291313	ANO5	c.755A>C	p.His252Pro (p.H252P)	NM_001142649.2	SNV	LP	2 +	0

15 Results, 20 per Page

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