Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150957394T>G | CA026674 | KCNH2 | n.1858A>C c.1025A>C (p.Asp342Ala) c.677A>C (p.Asp226Ala) n.1248A>C c.725A>C (p.Asp242Ala) c.875A>C (p.Asp292Ala) c.848A>C (p.Asp283Ala) | dbSNP ExAC |
7 | g.150957394T>A | CA004177 | KCNH2 | n.1858A>T c.1025A>T (p.Asp342Val) c.677A>T (p.Asp226Val) n.1248A>T c.725A>T (p.Asp242Val) c.875A>T (p.Asp292Val) c.848A>T (p.Asp283Val) | ClinVar dbSNP |