| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.225494473C>T | CA38527173 | ENAH | c.*3302G>A (n.*3302G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.225494473C>G | CA1224495434 | ENAH | c.*3302G>C (n.*3302G>C) | dbSNP |
| 1 | g.225494473C>A | CA1224495433 | ENAH | c.*3302G>T (n.*3302G>T) | dbSNP |