| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.91002143G>T | CA7744686 | VPS33B | c.1312C>A (p.Arg438=) c.1231C>A (p.Arg411=) c.*1007C>A (n.*1007C>A) c.1039C>A (p.Arg347=) c.1234C>A (p.Arg412=) c.988C>A (p.Arg330=) c.967C>A (p.Arg323=) n.1810C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002143G>A | CA115404 | VPS33B | c.1312C>T (p.Arg438Ter) c.1231C>T (p.Arg411Ter) c.*1007C>T (n.*1007C>T) c.1039C>T (p.Arg347Ter) c.1234C>T (p.Arg412Ter) c.988C>T (p.Arg330Ter) c.967C>T (p.Arg323Ter) n.1810C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |