| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.222488727A>T | CA1330636095 | SGPP2 | c.378+14001A>T (n.378+14001A>T) c.-7+14001A>T (n.-7+14001A>T) | dbSNP |
| 2 | g.222488727A>C | CA66363007 | SGPP2 | c.378+14001A>C (n.378+14001A>C) c.-7+14001A>C (n.-7+14001A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |