| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.46671766T>C | CA204878 | VPS35 | c.1463A>G (p.Gln488Arg) c.*1526A>G (n.*1526A>G) c.*2133A>G (n.*2133A>G) c.1262A>G (p.Gln421Arg) c.1376A>G (p.Gln459Arg) | ClinVar dbSNP |
| 16 | g.46671766T= | CA2219967671 | VPS35 | c.1463A= (p.Gln488=) c.*1526A= (n.*1526A=) c.*2133A= (n.*2133A=) c.1262A= (p.Gln421=) c.1376A= (p.Gln459=) | dbSNP dbSNP |