| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.87253736C>T | CA224978 | CHMP2B | c.556C>T (p.Arg186Ter) c.604C>T (p.Arg202Ter) n.4220C>T n.4305C>T n.487C>T c.433C>T (p.Arg145Ter) c.466C>T (p.Arg156Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.87253736C= | CA1381558311 | CHMP2B | c.556C= (p.Arg186=) c.604C= (p.Arg202=) n.4220C= n.4305C= n.487C= c.433C= (p.Arg145=) c.466C= (p.Arg156=) | dbSNP |