| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70033506A>G | CA261510 | EDA | c.902A>G (p.Tyr301Cys) c.893A>G (p.Tyr298Cys) c.506A>G (p.Tyr169Cys) c.882+20A>G (n.882+20A>G) | ClinVar dbSNP |
| X | g.70033506A= | CA2435981323 | EDA | c.902A= (p.Tyr301=) c.893A= (p.Tyr298=) c.506A= (p.Tyr169=) c.882+20A= (n.882+20A=) | dbSNP |