| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.77402314C>T | CA340470 | SEPTIN9 | c.278C>T (p.Ser93Phe) c.332C>T (p.Ser111Phe) c.-161C>T (n.-161C>T) n.381C>T c.311C>T (p.Ser104Phe) n.391C>T n.461C>T c.37-23C>T (n.37-23C>T) c.287C>T (p.Ser96Phe) c.25-242C>T (n.25-242C>T) c.*332C>T (n.*332C>T) n.437C>T c.275C>T (p.Ser92Phe) c.*327C>T (n.*327C>T) c.353C>T (p.Ser118Phe) n.362C>T c.-242C>T (n.-242C>T) c.425C>T (p.Ser142Phe) c.422C>T (p.Ser141Phe) | ClinVar dbSNP |
| 17 | g.77402314C= | CA2276461770 | SEPTIN9 | c.278C= (p.Ser93=) c.332C= (p.Ser111=) c.-161C= (n.-161C=) n.381C= c.311C= (p.Ser104=) n.391C= n.461C= c.37-23C= (n.37-23C=) c.287C= (p.Ser96=) c.25-242C= (n.25-242C=) c.*332C= (n.*332C=) n.437C= c.275C= (p.Ser92=) c.*327C= (n.*327C=) c.353C= (p.Ser118=) n.362C= c.-242C= (n.-242C=) c.425C= (p.Ser142=) c.422C= (p.Ser141=) | dbSNP |