| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.136327184C>A | CA435841366 | PCCB | c.1228C>A (p.Arg410=) c.1159C>A (p.Arg387=) c.1288C>A (p.Arg430=) c.1321C>A (p.Arg441=) n.1429C>A n.823+274C>A c.885-7096C>A (n.885-7096C>A) c.880C>A (p.Arg294=) c.1171C>A (p.Arg391=) c.1198+274C>A (n.1198+274C>A) c.1057C>A (p.Arg353=) | ClinVar dbSNP |
| 3 | g.136327184C>T | CA343136 | PCCB | c.1228C>T (p.Arg410Trp) c.1159C>T (p.Arg387Trp) c.1288C>T (p.Arg430Trp) c.1321C>T (p.Arg441Trp) n.1429C>T n.823+274C>T c.885-7096C>T (n.885-7096C>T) c.880C>T (p.Arg294Trp) c.1171C>T (p.Arg391Trp) c.1198+274C>T (n.1198+274C>T) c.1057C>T (p.Arg353Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |