| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.91013842G>A | CA393859958 | VPS33B | c.319C>T (p.Arg107Ter) c.238C>T (p.Arg80Ter) n.242C>T n.713C>T n.523C>T c.*14C>T (n.*14C>T) c.46C>T (p.Arg16Ter) c.-43C>T (n.-43C>T) n.655C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.91013842G= | CA2195404379 | VPS33B | c.319C= (p.Arg107=) c.238C= (p.Arg80=) n.242C= n.713C= n.523C= c.*14C= (n.*14C=) c.46C= (p.Arg16=) c.-43C= (n.-43C=) n.655C= | dbSNP |