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Gene: AK2 & Disease: Immunoerythromyeloid Hypoplasia, 1126 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1453536	AK2	c.84dup	p.Gly29fs (p.G29fs)	NM_001625.4 M	Dup	P	2 +	5
	AK2	c.-179dup	--	NM_001319139.3	Dup	P	2 +	5
	AK2	c.-179dup	--	NM_001319140.2	Dup	P	2 +	5
	AK2	c.84dup	p.Gly29fs (p.G29fs)	NM_001319141.3	Dup	P	2 +	5
	AK2	c.84dup	p.Gly29fs (p.G29fs)	NM_001319142.3	Dup	P	2 +	5
	AK2	c.84dup	p.Gly29fs (p.G29fs)	NM_001319143.2	Dup	P	2 +	5
	AK2	c.84dup	p.Gly29fs (p.G29fs)	NM_013411.5	Dup	P	2 +	5
	AK2	c.84dup	p.Gly29fs (p.G29fs)	NM_001199199.3	Dup	P	2 +	5
1436300	AK2	c.409C>T	p.Arg137Ter (p.R137X)	NM_001625.4 M	SNV	P	2 +	4
18255	AK2	c.498+1G>A	--	NM_001625.4 M	SNV	P	3 +	4
18258	AK2	c.556C>T	p.Arg186Cys (p.R186C)	NM_001625.4 M	SNV	P	3 +	4
836023	AK2	c.524G>C	p.Arg175Pro (p.R175P)	NM_001625.4 M	SNV	LP	2 +	4
1436300	AK2	c.265C>T	p.Arg89Ter (p.R89X)	NM_001319139.3	SNV	P	2 +	4
	AK2	c.265C>T	p.Arg89Ter (p.R89X)	NM_001319140.2	SNV	P	2 +	4
	AK2	c.409C>T	p.Arg137Ter (p.R137X)	NM_001319141.3	SNV	P	2 +	4
	AK2	c.283C>T	p.Arg95Ter (p.R95X)	NM_001319142.3	SNV	P	2 +	4
	AK2	c.409C>T	p.Arg137Ter (p.R137X)	NM_013411.5	SNV	P	2 +	4
	AK2	c.330+210C>T	--	NM_001319143.2	SNV	P	2 +	4
	AK2	c.401+8C>T	--	NM_001199199.3	SNV	P	2 +	4
18255	AK2	c.498+1G>A	--	NM_013411.5	SNV	P	3 +	4

1126 Results, 20 per Page

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