Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.101726785A>G | CA254318 | FGF14 | c.449T>C (p.Phe150Ser) c.332T>C (p.Phe111Ser) c.*38T>C (n.*38T>C) c.*253T>C (n.*253T>C) c.*348T>C (n.*348T>C) c.182T>C (p.Phe61Ser) c.434T>C (p.Phe145Ser) c.254T>C (p.Phe85Ser) c.245T>C (p.Phe82Ser) c.338T>C (p.Phe113Ser) c.248T>C (p.Phe83Ser) c.293T>C (p.Phe98Ser) | ClinVar dbSNP |
13 | g.101726785A= | CA2114682891 | FGF14 | c.449T= (p.Phe150=) c.332T= (p.Phe111=) c.*38T= (n.*38T=) c.*253T= (n.*253T=) c.*348T= (n.*348T=) c.182T= (p.Phe61=) c.434T= (p.Phe145=) c.254T= (p.Phe85=) c.245T= (p.Phe82=) c.338T= (p.Phe113=) c.248T= (p.Phe83=) c.293T= (p.Phe98=) | dbSNP |