Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: SLC4A2 & Disease: OPTB9, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2500828	SLC4A2	c.1658T>C	p.Val553Ala (p.V553A)	NM_003040.4 M	SNV	P	1 +	1
2500827	SLC4A2	c.556G>A	p.Ala186Thr (p.A186T)	NM_003040.4 M	SNV	P	1 +	1
2500828	SLC4A2	c.1658T>C	p.Val553Ala (p.V553A)	NM_001199692.3	SNV	P	1 +	1
	SLC4A2	c.1631T>C	p.Val544Ala (p.V544A)	NM_001199693.1	SNV	P	1 +	1
	SLC4A2	c.1616T>C	p.Val539Ala (p.V539A)	NM_001199694.2	SNV	P	1 +	1
2500827	SLC4A2	c.556G>A	p.Ala186Thr (p.A186T)	NM_001199692.3	SNV	P	1 +	1
	SLC4A2	c.529G>A	p.Ala177Thr (p.A177T)	NM_001199693.1	SNV	P	1 +	1
	SLC4A2	c.514G>A	p.Ala172Thr (p.A172T)	NM_001199694.2	SNV	P	1 +	1

8 Results, 20 per Page

1

Comparison

Back to top