| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80104552C>T | CA628018629 | GAA | c.-32-3C>T (n.-32-3C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80104552C>A | CA16041878 | GAA | c.-32-3C>A (n.-32-3C>A) | ClinVar dbSNP gnomAD v4 |
| 17 | g.80104552C= | CA2277810502 | GAA | c.-32-3C= (n.-32-3C=) | dbSNP dbSNP |