| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49253200A>C | CA412950404 | FOXP3 | c.865T>G (p.Phe289Val) c.970T>G (p.Phe324Val) c.1039T>G (p.Phe347Val) c.889T>G (p.Phe297Val) c.967+717T>G (n.967+717T>G) c.820T>G (p.Phe274Val) c.1189T>G (p.Phe397Val) c.988T>G (p.Phe330Val) c.1225T>G (p.Phe409Val) c.916T>G (p.Phe306Val) | ClinVar dbSNP gnomAD v4 |
| X | g.49253200A>G | CA255868 | FOXP3 | c.865T>C (p.Phe289Leu) c.970T>C (p.Phe324Leu) c.1039T>C (p.Phe347Leu) c.889T>C (p.Phe297Leu) c.967+717T>C (n.967+717T>C) c.820T>C (p.Phe274Leu) c.1189T>C (p.Phe397Leu) c.988T>C (p.Phe330Leu) c.1225T>C (p.Phe409Leu) c.916T>C (p.Phe306Leu) | ClinVar dbSNP gnomAD v4 |