| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70033431G>T | CA16043276 | EDA | c.827G>T (p.Arg276Leu) c.818G>T (p.Arg273Leu) c.431G>T (p.Arg144Leu) | ClinVar dbSNP |
| X | g.70033431G>A | CA413448826 | EDA | c.827G>A (p.Arg276His) c.818G>A (p.Arg273His) c.431G>A (p.Arg144His) | dbSNP gnomAD v4 |