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Gene: HIF1A & Disease: ENCHOM, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
782785	HIF1A	c.1264G>T	p.Asp422Tyr (p.D422Y)	NM_001530.4 M	SNV	LP	1 +	2
	HIF1A	c.1336G>T	p.Asp446Tyr (p.D446Y)	NM_001243084.2	SNV	LP	1 +	2
	HIF1A	c.1264G>T	p.Asp422Tyr (p.D422Y)	NM_181054.3	SNV	LP	1 +	2
1803804	HIF1A	c.2075C>G	p.Ser692Cys (p.S692C)	NM_001530.4 M	SNV	LP	1 +	1
1803802	HIF1A	c.1892G>A	p.Arg631His (p.R631H)	NM_001530.4 M	SNV	LP	1 +	1
1803800	HIF1A	c.644C>T	p.Pro215Leu (p.P215L)	NM_001530.4 M	SNV	LP	1 +	1
1803804	HIF1A	c.2147C>G	p.Ser716Cys (p.S716C)	NM_001243084.2	SNV	LP	1 +	1
1803804	HIF1A	c.2075C>G	p.Ser692Cys (p.S692C)	NM_181054.3	SNV	LP	1 +	1
1803802	HIF1A	c.1964G>A	p.Arg655His (p.R655H)	NM_001243084.2	SNV	LP	1 +	1
1803802	HIF1A	c.1892G>A	p.Arg631His (p.R631H)	NM_181054.3	SNV	LP	1 +	1
1803800	HIF1A	c.716C>T	p.Pro239Leu (p.P239L)	NM_001243084.2	SNV	LP	1 +	1
1803800	HIF1A	c.644C>T	p.Pro215Leu (p.P215L)	NM_181054.3	SNV	LP	1 +	1

共12个结果, 每页展示20条

1

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