| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.55884174C>G | CA1252513322 | EFEMP1 | c.518-2440G>C (n.518-2440G>C) c.117-2440G>C c.*410-2440G>C (n.*410-2440G>C) c.908-2440G>C (n.908-2440G>C) | dbSNP |
| 2 | g.55884174C>T | CA16098929 | EFEMP1 | c.518-2440G>A (n.518-2440G>A) c.117-2440G>A c.*410-2440G>A (n.*410-2440G>A) c.908-2440G>A (n.908-2440G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |