| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70035434G>A | CA10439036 | EDA | c.1001G>A (p.Arg334His) c.995G>A (p.Arg332His) c.986G>A (p.Arg329His) c.605G>A (p.Arg202His) c.992G>A (p.Arg331His) c.959G>A (p.Arg320His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70035434G>C | CA10577180 | EDA | c.1001G>C (p.Arg334Pro) c.995G>C (p.Arg332Pro) c.986G>C (p.Arg329Pro) c.605G>C (p.Arg202Pro) c.992G>C (p.Arg331Pro) c.959G>C (p.Arg320Pro) | ClinVar dbSNP |
| X | g.70035434G>T | CA413449758 | EDA | c.1001G>T (p.Arg334Leu) c.995G>T (p.Arg332Leu) c.986G>T (p.Arg329Leu) c.605G>T (p.Arg202Leu) c.992G>T (p.Arg331Leu) c.959G>T (p.Arg320Leu) | dbSNP gnomAD v2 gnomAD v4 |