| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.236394471G>C | CA345653168 | EDARADD | c.27G>C (p.Met9Ile) c.-5-14745G>C (n.-5-14745G>C) | dbSNP |
| 1 | g.236394471G>A | CA1469907 | EDARADD | c.27G>A (p.Met9Ile) c.-5-14745G>A (n.-5-14745G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236394471G>T | CA1469908 | EDARADD | c.27G>T (p.Met9Ile) c.-5-14745G>T (n.-5-14745G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |