| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.43199504G>A | CA204929 | HGSNAT | c.1843G>A (p.Ala615Thr) n.1159G>A c.994G>A (p.Ala332Thr) c.1954G>A (p.Ala652Thr) c.1930G>A (p.Ala644Thr) c.1762G>A (p.Ala588Thr) c.1651G>A (p.Ala551Thr) c.979G>A (p.Ala327Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199504G= | CA1779777524 | HGSNAT | c.1843G= (p.Ala615=) n.1159G= c.994G= (p.Ala332=) c.1954G= (p.Ala652=) c.1930G= (p.Ala644=) c.1762G= (p.Ala588=) c.1651G= (p.Ala551=) c.979G= (p.Ala327=) | dbSNP |