| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.83322396A>T | CA1472744088 | HPSE | c.228-32T>A (n.228-32T>A) n.247-32T>A | dbSNP |
| 4 | g.83322396A>G | CA2989204 | HPSE | c.228-32T>C (n.228-32T>C) n.247-32T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.83322396A= | CA1472744084 | HPSE | c.228-32T= (n.228-32T=) n.247-32T= | dbSNP |