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Gene: HCN4 & Disease: EIG18, 74 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
190785	HCN4	c.3497_3500del	p.Ser1166fs (p.S1166fs)	NM_005477.3 M	Del	VUS	3 +	3
191377	HCN4	c.3502_3505del	p.Phe1168fs (p.F1168fs)	NM_005477.3 M	MS	VUS	4 +	3
969135	HCN4	c.2833C>T	p.Pro945Ser (p.P945S)	NM_005477.3 M	SNV	VUS	3 +	3
970242	HCN4	c.2884_2889del	--	NM_005477.3 M	MS	VUS	3 +	2
970242	HCN4	c.2878CCACCC[1]	p.Pro962_Pro963del	NM_005477.3 M	MS	VUS	3 +	2
470647	HCN4	c.134G>T	p.Arg45Leu (p.R45L)	NM_005477.3 M	SNV	VUS	3 +	2
404122	HCN4	c.334G>A	p.Gly112Ser (p.G112S)	NM_005477.3 M	SNV	VUS	3 +	2
1439276	HCN4	c.358G>A	p.Gly120Arg (p.G120R)	NM_005477.3 M	SNV	VUS	3 +	2
579994	HCN4	c.466G>A	p.Gly156Ser (p.G156S)	NM_005477.3 M	SNV	VUS	3 +	2
660308	HCN4	c.493C>T	p.Pro165Ser (p.P165S)	NM_005477.3 M	SNV	VUS	3 +	2
969148	HCN4	c.483_500dup	p.Ala162_Pro167dup	NM_005477.3 M	Dup	VUS	3 +	2
190787	HCN4	c.520C>T	p.Pro174Ser (p.P174S)	NM_005477.3 M	SNV	VUS	4 +	2
412796	HCN4	c.561T>C	p.Ala187= (p.A187=)	NM_005477.3 M	SNV	LB	3 +	2
860790	HCN4	c.955G>A	p.Val319Met (p.V319M)	NM_005477.3 M	SNV	VUS	3 +	2
1513426	HCN4	c.1026C>G	p.Phe342Leu (p.F342L)	NM_005477.3 M	SNV	VUS	3 +	2
1399390	HCN4	c.1090G>C	p.Asp364His (p.D364H)	NM_005477.3 M	SNV	VUS	3 +	2
950256	HCN4	c.1115G>A	p.Arg372Gln (p.R372Q)	NM_005477.3 M	SNV	VUS	3 +	2
190779	HCN4	c.1132C>T	p.Arg378Cys (p.R378C)	NM_005477.3 M	SNV	LP	3 +	2
1017092	HCN4	c.1209+4A>G	--	NM_005477.3 M	SNV	VUS	3 +	2
412788	HCN4	c.1243G>A	p.Val415Met (p.V415M)	NM_005477.3 M	SNV	LB	4 +	2

共74个结果, 每页展示20条

Comparison