| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.17795162T>C | CA9983388 | C21orf91 | c.727+46A>G (n.727+46A>G) c.664+1420A>G (n.664+1420A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.17795162T>G | CA2580654535 | C21orf91 | c.727+46A>C (n.727+46A>C) c.664+1420A>C (n.664+1420A>C) | dbSNP gnomAD v4 |
| 21 | g.17795162T= | CA2379515785 | C21orf91 | c.727+46A= (n.727+46A=) c.664+1420A= (n.664+1420A=) | dbSNP |