| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70033430C>G | CA413448825 | EDA | c.826C>G (p.Arg276Gly) c.817C>G (p.Arg273Gly) c.430C>G (p.Arg144Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.70033430C>T | CA260052 | EDA | c.826C>T (p.Arg276Cys) c.817C>T (p.Arg273Cys) c.430C>T (p.Arg144Cys) | ClinVar dbSNP |
| X | g.70033430C= | CA2435981293 | EDA | c.826C= (p.Arg276=) c.817C= (p.Arg273=) c.430C= (p.Arg144=) | dbSNP |