| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.117835461C>A | CA16605944 | EXT1 | n.614G>T c.1147G>T (p.Glu383Ter) c.515G>T c.*38G>T (n.*38G>T) | ClinVar dbSNP |
| 8 | g.117835461C>T | CA371891914 | EXT1 | n.614G>A c.1147G>A (p.Glu383Lys) c.515G>A c.*38G>A (n.*38G>A) | dbSNP |