| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.58120049C>A | CA1367505185 | FLNB | n.3006+1060C>A c.2863+1060C>A (n.2863+1060C>A) c.*1395+1060C>A (n.*1395+1060C>A) c.2356+1060C>A (n.2356+1060C>A) n.3008+1060C>A | dbSNP |
| 3 | g.58120049C>T | CA11362519 | FLNB | n.3006+1060C>T c.2863+1060C>T (n.2863+1060C>T) c.*1395+1060C>T (n.*1395+1060C>T) c.2356+1060C>T (n.2356+1060C>T) n.3008+1060C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |