Mutation Direct

Effortless mutation search and display tool

Search criteria：

基因: CASR & 疾病: HHC1, 共431条

ClinVar	基因	碱基改变	氨基酸改变	转录本ID	突变类型	临床意义	疾病数量	文献数量
8314	CASR	c.554G>A	p.Arg185Gln (p.R185Q)	NM_000388.4 M	SNV	致病突变	5 +	35
8314	CASR	c.554G>A	p.Arg185Gln (p.R185Q)	NM_001178065.2	SNV	致病突变	5 +	35
8349	CASR	c.2956G>T	p.Ala986Ser (p.A986S)	NM_000388.4 M	SNV	良性突变	5 +	32
8349	CASR	c.2986G>T	p.Ala996Ser (p.A996S)	NM_001178065.2	SNV	良性突变	5 +	32
8312	CASR	c.2383C>T	p.Arg795Trp (p.R795W)	NM_000388.4 M	SNV	致病突变	3 +	13
936871	CASR	c.2243C>G	p.Pro748Arg (p.P748R)	NM_000388.4 M	SNV	致病突变	3 +	13
8331	CASR	c.680G>A	p.Arg227Gln (p.R227Q)	NM_000388.4 M	SNV	致病突变	5 +	13
60667	CASR	c.662C>T	p.Pro221Leu (p.P221L)	NM_000388.4 M	SNV	致病突变	5 +	13
431804	CASR	c.658C>T	p.Arg220Trp (p.R220W)	NM_000388.4 M	SNV	致病突变	5 +	13
8312	CASR	c.2413C>T	p.Arg805Trp (p.R805W)	NM_001178065.2	SNV	致病突变	3 +	13
936871	CASR	c.2273C>G	p.Pro758Arg (p.P758R)	NM_001178065.2	SNV	致病突变	3 +	13
8331	CASR	c.680G>A	p.Arg227Gln (p.R227Q)	NM_001178065.2	SNV	致病突变	5 +	13
60667	CASR	c.662C>T	p.Pro221Leu (p.P221L)	NM_001178065.2	SNV	致病突变	5 +	13
431804	CASR	c.658C>T	p.Arg220Trp (p.R220W)	NM_001178065.2	SNV	致病突变	5 +	13
8333	CASR	c.428G>A	p.Gly143Glu (p.G143E)	NM_000388.4 M	SNV	致病突变	3 +	12
35787	CASR	c.206G>A	p.Arg69His (p.R69H)	NM_000388.4 M	SNV	致病突变	4 +	12
8333	CASR	c.428G>A	p.Gly143Glu (p.G143E)	NM_001178065.2	SNV	致病突变	3 +	12
35787	CASR	c.206G>A	p.Arg69His (p.R69H)	NM_001178065.2	SNV	致病突变	4 +	12
237763	CASR	c.2039G>A	p.Arg680His (p.R680H)	NM_000388.4 M	SNV	致病突变	5 +	11
8352	CASR	c.1394G>A	p.Arg465Gln (p.R465Q)	NM_000388.4 M	SNV	致病突变	3 +	11

431 Results, 20 per Page

...