| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.45804148A>G | CA14728269 | RSPH6A | c.1653+104T>C (n.1653+104T>C) c.861+104T>C (n.861+104T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45804148A= | CA2338614883 | RSPH6A | c.1653+104T= (n.1653+104T=) c.861+104T= (n.861+104T=) | dbSNP |