| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49257447G>T | CA10411807 | FOXP3 | c.329C>A (p.Ala110Asp) c.434C>A (p.Ala145Asp) c.287C>A (p.Ala96Asp) c.284C>A (p.Ala95Asp) c.653C>A (p.Ala218Asp) c.452C>A (p.Ala151Asp) c.689C>A (p.Ala230Asp) c.380C>A (p.Ala127Asp) | dbSNP ExAC gnomAD v4 |
| X | g.49257447G>A | CA277185 | FOXP3 | c.329C>T (p.Ala110Val) c.434C>T (p.Ala145Val) c.287C>T (p.Ala96Val) c.284C>T (p.Ala95Val) c.653C>T (p.Ala218Val) c.452C>T (p.Ala151Val) c.689C>T (p.Ala230Val) c.380C>T (p.Ala127Val) | ClinVar dbSNP gnomAD v4 |