| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.55697923G>C | CA8061724 | SLC6A2 | c.1287G>C (p.Thr429=) c.1152G>C (p.Thr384=) c.1039G>C (p.Gly347Arg) c.972G>C (p.Thr324=) c.1174G>C (p.Gly392Arg) c.564G>C (p.Thr188=) n.1904G>C n.1580G>C | dbSNP ExAC gnomAD v2 |
| 16 | g.55697923G>A | CA8061723 | SLC6A2 | c.1287G>A (p.Thr429=) c.1152G>A (p.Thr384=) c.1039G>A (p.Gly347Arg) c.972G>A (p.Thr324=) c.1174G>A (p.Gly392Arg) c.564G>A (p.Thr188=) n.1904G>A n.1580G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.55697923G= | CA2223806829 | SLC6A2 | c.1287G= (p.Thr429=) c.1152G= (p.Thr384=) c.1039G= (p.Gly347=) c.972G= (p.Thr324=) c.1174G= (p.Gly392=) c.564G= (p.Thr188=) n.1904G= n.1580G= | dbSNP |
| 16 | g.55697923G>T | CA495567238 | SLC6A2 | c.1287G>T (p.Thr429=) c.1152G>T (p.Thr384=) c.1039G>T (p.Gly347Trp) c.972G>T (p.Thr324=) c.1174G>T (p.Gly392Trp) c.564G>T (p.Thr188=) n.1904G>T n.1580G>T | dbSNP |