| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.46662452C>T | CA259758 | VPS35 | c.1858G>A (p.Asp620Asn) c.*1921G>A (n.*1921G>A) n.496G>A c.*2528G>A (n.*2528G>A) c.1657G>A (p.Asp553Asn) c.1771G>A (p.Asp591Asn) | ClinVar dbSNP COSMIC |
| 16 | g.46662452C= | CA2219963621 | VPS35 | c.1858G= (p.Asp620=) c.*1921G= (n.*1921G=) n.496G= c.*2528G= (n.*2528G=) c.1657G= (p.Asp553=) c.1771G= (p.Asp591=) | dbSNP |