| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.72293609G>T | CA381725066 | CLPB | c.*1482C>A (n.*1482C>A) n.2661C>A n.3373C>A c.1882C>A (p.Arg628Ser) c.*1217C>A (n.*1217C>A) c.1792C>A (p.Arg598Ser) c.1837C>A (p.Arg613Ser) c.1300C>A (n.1300C>A) n.1210C>A n.970C>A c.1705C>A (p.Arg569Ser) c.1747C>A (p.Arg583Ser) c.*212C>A (n.*212C>A) c.1897C>A (p.Arg633Ser) c.809C>A (n.809C>A) c.1279C>A (p.Arg427Ser) c.1795C>A (p.Arg599Ser) | dbSNP |
| 11 | g.72293609G>A | CA6171023 | CLPB | c.*1482C>T (n.*1482C>T) n.2661C>T n.3373C>T c.1882C>T (p.Arg628Cys) c.*1217C>T (n.*1217C>T) c.1792C>T (p.Arg598Cys) c.1837C>T (p.Arg613Cys) c.1300C>T (n.1300C>T) n.1210C>T n.970C>T c.1705C>T (p.Arg569Cys) c.1747C>T (p.Arg583Cys) c.*212C>T (n.*212C>T) c.1897C>T (p.Arg633Cys) c.809C>T (n.809C>T) c.1279C>T (p.Arg427Cys) c.1795C>T (p.Arg599Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |