| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.55699647T>G | CA281421471 | SLC6A2 | c.1583T>G (p.Phe528Cys) c.1448T>G (p.Phe483Cys) c.*282T>G (n.*282T>G) c.1268T>G (p.Phe423Cys) c.860T>G (p.Phe287Cys) n.2107-492T>G n.1783-492T>G | dbSNP |
| 16 | g.55699647T= | CA2223809525 | SLC6A2 | c.1583T= (p.Phe528=) c.1448T= (p.Phe483=) c.*282T= (n.*282T=) c.1268T= (p.Phe423=) c.860T= (p.Phe287=) n.2107-492T= n.1783-492T= | dbSNP |