| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49253161G>T | CA516395778 | FOXP3 | c.904C>A (p.Arg302=) c.1009C>A (p.Arg337=) c.1078C>A (p.Arg360=) c.928C>A (p.Arg310=) c.967+756C>A (n.967+756C>A) c.859C>A (p.Arg287=) c.1228C>A (p.Arg410=) c.1027C>A (p.Arg343=) c.1264C>A (p.Arg422=) c.955C>A (p.Arg319=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.49253161G>A | CA16043255 | FOXP3 | c.904C>T (p.Arg302Ter) c.1009C>T (p.Arg337Ter) c.1078C>T (p.Arg360Ter) c.928C>T (p.Arg310Ter) c.967+756C>T (n.967+756C>T) c.859C>T (p.Arg287Ter) c.1228C>T (p.Arg410Ter) c.1027C>T (p.Arg343Ter) c.1264C>T (p.Arg422Ter) c.955C>T (p.Arg319Ter) | ClinVar dbSNP |