| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70035446C>T | CA121314 | EDA | c.1013C>T (p.Thr338Met) c.1007C>T (p.Thr336Met) c.998C>T (p.Thr333Met) c.617C>T (p.Thr206Met) c.1004C>T (p.Thr335Met) c.971C>T (p.Thr324Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.70035446C= | CA2435981931 | EDA | c.1013C= (p.Thr338=) c.1007C= (p.Thr336=) c.998C= (p.Thr333=) c.617C= (p.Thr206=) c.1004C= (p.Thr335=) c.971C= (p.Thr324=) | dbSNP |