| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.20887681G>C | CA410760366 | SNAP29 | c.622G>C (p.Glu208Gln) c.343G>C (p.Glu115Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.20887681G>T | CA16621038 | SNAP29 | c.622G>T (p.Glu208Ter) c.343G>T (p.Glu115Ter) | ClinVar dbSNP |