| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70035527T>C | CA133741 | EDA | c.1094T>C (p.Val365Ala) c.1088T>C (p.Val363Ala) c.1079T>C (p.Val360Ala) c.698T>C (p.Val233Ala) c.1085T>C (p.Val362Ala) c.1052T>C (p.Val351Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70035527T= | CA2435981957 | EDA | c.1094T= (p.Val365=) c.1088T= (p.Val363=) c.1079T= (p.Val360=) c.698T= (p.Val233=) c.1085T= (p.Val362=) c.1052T= (p.Val351=) | dbSNP |