Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.55885305C>T | CA1252513796 | EFEMP1 | c.518-3571G>A (n.518-3571G>A) c.117-3571G>A c.*410-3571G>A (n.*410-3571G>A) c.908-3571G>A (n.908-3571G>A) | dbSNP |
2 | g.55885305C>A | CA11068461 | EFEMP1 | c.518-3571G>T (n.518-3571G>T) c.117-3571G>T c.*410-3571G>T (n.*410-3571G>T) c.908-3571G>T (n.908-3571G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |