| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.136329940C>A | CA354650029 | PCCB | c.1534C>A (p.Arg512Ser) c.1465C>A (p.Arg489Ser) c.1594C>A (p.Arg532Ser) c.1627C>A (p.Arg543Ser) n.1735C>A c.885-4340C>A (n.885-4340C>A) c.1186C>A (p.Arg396Ser) c.1477C>A (p.Arg493Ser) c.*215C>A (n.*215C>A) c.1363C>A (p.Arg455Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.136329940C>T | CA343140 | PCCB | c.1534C>T (p.Arg512Cys) c.1465C>T (p.Arg489Cys) c.1594C>T (p.Arg532Cys) c.1627C>T (p.Arg543Cys) n.1735C>T c.885-4340C>T (n.885-4340C>T) c.1186C>T (p.Arg396Cys) c.1477C>T (p.Arg493Cys) c.*215C>T (n.*215C>T) c.1363C>T (p.Arg455Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |