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Gene: HBB & Disease: CM, 53 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
15333	HBB	c.20A>T	p.Glu7Val (p.E7V)	NM_000518.5 M	SNV	P	14 +	97
15126	HBB	c.19G>A	p.Glu7Lys (p.E7K)	NM_000518.5 M	SNV	P	13 +	42
15161	HBB	c.79G>A	p.Glu27Lys (p.E27K)	NM_000518.5 M	SNV	P	14 +	37
15457	HBB	c.316-106C>G	--	NM_000518.5 M	SNV	P	11 +	33
15436	HBB	c.92+1G>A	--	NM_000518.5 M	SNV	P	11 +	32
15461	HBB	c.-151C>T	--	NM_000518.5 M	SNV	P	11 +	31
15402	HBB	c.118C>T	p.Gln40Ter (p.Q40X)	NM_000518.5 M	SNV	P	11 +	30
15454	HBB	c.93-21G>A	--	NM_000518.5 M	SNV	P	11 +	29
15447	HBB	c.92+5G>C	--	NM_000518.5 M	SNV	P	11 +	27
15414	HBB	c.51del	p.Lys18fs (p.K18fs)	NM_000518.5 M	Del	P	12 +	26
15414	HBB	c.51delC	--	NM_000518.5 M	Del	P	12 +	26
15438	HBB	c.315+1G>A	--	NM_000518.5 M	SNV	P	11 +	26
15450	HBB	c.92+6T>C	--	NM_000518.5 M	SNV	P	11 +	26
15292	HBB	c.364G>A	p.Glu122Lys (p.E122K)	NM_000518.5 M	SNV	P	12 +	24
15417	HBB	c.126_129del	p.Phe42fs (p.F42fs)	NM_000518.5 M	Del	P	11 +	22
15417	HBB	c.126_129delCTTT	--	NM_000518.5 M	Del	P	11 +	22
15451	HBB	c.316-3C>A	--	NM_000518.5 M	SNV	P	12 +	21
15469	HBB	c.-79A>G	--	NM_000518.5 M	SNV	P	11 +	21
15431	HBB	c.112del	p.Trp38fs (p.W38fs)	NM_000518.5 M	Del	P	12 +	20
15431	HBB	c.112delT	--	NM_000518.5 M	Del	P	12 +	20

53 Results, 20 per Page

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