| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.68371823T>A | CA892332691 | PLEK | c.42+6430T>A (n.42+6430T>A) | dbSNP |
| 2 | g.68371823T>C | CA11117393 | PLEK | c.42+6430T>C (n.42+6430T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.68371823T= | CA1258629533 | PLEK | c.42+6430T= (n.42+6430T=) | dbSNP |